rickets

{{Short description|Childhood weak bone disorder}}

{{Distinguish|rickettsia|osteogenesis imperfecta}}

{{For|the surname|Ricketts (disambiguation){{!}}Ricketts}}

{{Use dmy dates|date=November 2020}}

{{Infobox medical condition

| name = Rickets

| pronounce = {{IPAc-en|ˈ|r|ɪ|k|ᵻ|t|s}}

| image = XrayRicketsLegssmall.jpg

| caption = X-ray of a two-year-old with rickets, demonstrating a marked bowing of the femurs and decreased bone density

| field = Pediatrics, rheumatology, dietetics

| symptoms = Bowed legs, stunted growth, bone pain, large forehead, trouble sleeping{{cite journal | vauthors = Elder CJ, Bishop NJ | title = Rickets | journal = Lancet | volume = 383 | issue = 9929 | pages = 1665–1676 | date = May 2014 | pmid = 24412049 | doi = 10.1016/S0140-6736(13)61650-5 | s2cid = 208788707 }}{{cite web|title=Rickets, Vitamin D Deficiency|url=https://rarediseases.org/rare-diseases/rickets-vitamin-d-deficiency/|publisher=NORD (National Organization for Rare Disorders)|access-date=19 December 2017|date=2005}}

| complications = Bone fractures, muscle spasms, abnormally curved spine, intellectual disability

| onset = Childhood

| duration =

| types =

| causes = Diet without enough vitamin D or calcium, too little sun exposure, exclusive breastfeeding without supplementation, celiac disease, certain genetic conditions

| risks =

| diagnosis = Blood tests, X-rays

| differential = Fanconi syndrome, scurvy, Lowe syndrome, osteomalacia

| prevention = Vitamin D supplements for exclusively-breastfed babies

| treatment = Vitamin D and calcium

| medication =

| prognosis =

| frequency = Relatively common (Middle East, Africa, Asia)

| deaths =

}}

Rickets, scientific nomenclature: rachitis (from Greek {{Lang|grc|ῥαχίτης}} {{translit|grc|rhakhítēs}},{{cite web| url = https://www.perseus.tufts.edu/hopper/morph?l=raxiths&la=greek#lexicon | title = ῥαχίτης | trans-title = ῥachitis | language = Greek | work = Greek Word Study Tool}} meaning 'in or of the spine'), is a condition that results in weak or soft bones in children and may have either dietary deficiency or genetic causes.{{cite web|title=Rickets|url=https://rarediseases.info.nih.gov/diseases/5700/rickets|website=Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|access-date=19 December 2017|language=en|date=2013}} Symptoms include bowed legs, stunted growth, bone pain, large forehead, and trouble sleeping. Complications may include bone deformities, bone pseudofractures and fractures, muscle spasms, or an abnormally curved spine. The analogous condition in adults is osteomalacia.

The most common cause of rickets is a vitamin D deficiency, although hereditary genetic forms also exist. This can result from eating a diet without enough vitamin D, dark skin, too little sun exposure, exclusive breastfeeding without vitamin D supplementation, celiac disease, and certain genetic conditions. Other factors may include not enough calcium or phosphorus.{{cite journal | vauthors = Creo AL, Thacher TD, Pettifor JM, Strand MA, Fischer PR | title = Nutritional rickets around the world: an update | journal = Paediatrics and International Child Health | volume = 37 | issue = 2 | pages = 84–98 | date = May 2017 | pmid = 27922335 | doi = 10.1080/20469047.2016.1248170 | s2cid = 6146424 }}{{cite web|title=Rickets - OrthoInfo - AAOS|url=https://orthoinfo.aaos.org/en/diseases--conditions/rickets/|access-date=19 December 2017|date=September 2010}} The underlying mechanism involves insufficient calcification of the growth plate.{{cite book| vauthors = Florin T, Ludwig S, Aronson PL, Werner HC |title=Netter's Pediatrics E-Book|date=2011|publisher=Elsevier Health Sciences|isbn=978-1455710645|page=430|url=https://books.google.com/books?id=7czRAQAAQBAJ&pg=PA430|language=en}} Diagnosis is generally based on blood tests finding a low calcium, low phosphorus, and a high alkaline phosphatase together with X-rays.

Prevention for exclusively breastfed babies is vitamin D supplements. Otherwise, treatment depends on the underlying cause. If due to a lack of vitamin D, treatment is usually with vitamin D and calcium. This generally results in improvements within a few weeks. Bone deformities may also improve over time. Occasionally surgery may be performed to correct bone deformities.{{cite journal | vauthors = El-Sobky TA, Samir S, Baraka MM, Fayyad TA, Mahran MA, Aly AS, Amen J, Mahmoud S | display-authors = 6 | title = Growth Modulation for Knee Coronal Plane Deformities in Children With Nutritional Rickets: A Prospective Series With Treatment Algorithm | journal = Journal of the American Academy of Orthopaedic Surgeons. Global Research & Reviews | volume = 4 | issue = 1 | pages = e19.00009 | date = January 2020 | pmid = 32159063 | pmc = 7028784 | doi = 10.5435/JAAOSGlobal-D-19-00009 | doi-access = free }} Genetic forms of the disease typically require specialized treatment.

Rickets occurs relatively commonly in the Middle East, Africa, and Asia. It is generally uncommon in the United States and Europe, except among certain minority groups but rates have been increasing among some populations. It begins in childhood, typically between the ages of 3 and 18 months old.{{cite web|title=Rickets, Vitamin D Deficiency|url=https://rarediseases.org/rare-diseases/rickets-vitamin-d-deficiency/|publisher=NORD (National Organization for Rare Disorders)|access-date=19 December 2017|date=2005}} Rates of disease are equal in males and females. Cases of what is believed to have been rickets have been described since the 1st century, and the condition was widespread in the Roman Empire.{{Cite web|url=https://www.theguardian.com/science/2018/aug/20/roman-rickets-vitamin-d-deficiency|title=Evidence in the bones reveals rickets in Roman times| vauthors = Brown M |date=2018-08-19|website=The Guardian|language=en|access-date=2018-08-20}} The disease was common into the 20th century.{{cite journal | vauthors = Rajakumar K | title = Vitamin D, cod-liver oil, sunlight, and rickets: a historical perspective | journal = Pediatrics | volume = 112 | issue = 2 | pages = e132–e135 | date = August 2003 | pmid = 12897318 | doi = 10.1542/peds.112.2.e132 | doi-access = free }} Early treatments included the use of cod liver oil.{{cite web |url=https://www.rositausa.com/pages/history |title=Cod Liver Oil: History |last= |first= |date= |website=Rosita |access-date=5 December 2024}}{{cite journal |vauthors=Hernigou P, Auregan JC, Dubory A |title=Vitamin D: part II; cod liver oil, ultraviolet radiation, and eradication of rickets |journal=Int Orthop |volume=43 |issue=3 |pages=735–49 |date=March 2019 |pmid=30627846 |doi=10.1007/s00264-019-04288-z |url=}}

Signs and symptoms

File:Rickets wrist.jpg

Signs and symptoms of dietary deficiency rickets can include bone tenderness, and a susceptibility for bone fractures, particularly greenstick fractures.{{cite web| url = http://www.news-medical.net/health/Rickets-Symptoms.aspx| title = Medical News – Symptoms of Rickets| date = March 2010}} Early skeletal deformities can arise in infants such as soft, thinned skull bones – a condition known as craniotabes,{{cite journal | vauthors = Harvey NC, Holroyd C, Ntani G, Javaid K, Cooper P, Moon R, Cole Z, Tinati T, Godfrey K, Dennison E, Bishop NJ, Baird J, Cooper C | display-authors = 6 | title = Vitamin D supplementation in pregnancy: a systematic review | journal = Health Technology Assessment | volume = 18 | issue = 45 | pages = 1–190 | date = July 2014 | pmid = 25025896 | pmc = 4124722 | doi = 10.3310/hta18450 }}{{cite journal | vauthors = Prentice A | title = Nutritional rickets around the world | journal = The Journal of Steroid Biochemistry and Molecular Biology | volume = 136 | pages = 201–206 | date = July 2013 | pmid = 23220549 | doi = 10.1016/j.jsbmb.2012.11.018 | s2cid = 19944113 }} which is the first sign of rickets; skull bossing may be present and a delayed closure of the fontanelles.

Young children may have bowed legs and thickened ankles and wrists;{{cite web| url =http://www.mayoclinic.com/health/rickets/DS00813/DSECTION=symptoms| work = Mayo Clinic | title = Signs and Symptoms of Rickets}} older children may have knock knees. Spinal curvatures of kyphoscoliosis or lumbar lordosis may be present. The pelvic bones may be deformed. A condition known as rachitic rosary can result as the thickening caused by nodules forming on the costochondral joints. This appears as a visible bump in the middle of each rib in a line on each side of the body. This somewhat resembles a rosary, giving rise to its name. The deformity of a pigeon chest may result in the presence of Harrison's groove.

Hypocalcemia, a low level of calcium in the blood can result in tetany – uncontrolled muscle spasms. Dental problems can also arise.

An X-ray or radiograph of an advanced patient with rickets tends to present in a classic way: the bowed legs (outward curve of long bone of the legs) and a deformed chest. Changes in the skull also occur causing a distinctive "square headed" appearance known as "caput quadratum".{{cite web|title=caput quadratum|url=http://medical-dictionary.thefreedictionary.com/caput+quadratum|website=TheFreeDictionary.com}} These deformities persist into adult life if not treated. Long-term consequences include permanent curvatures or disfiguration of the long bones, and a curved back.{{cite journal | vauthors = O'Riordan JL, Bijvoet OL | title = Rickets before the discovery of vitamin D | journal = BoneKEy Reports | volume = 3 | pages = 478 | date = January 2014 | pmid = 24466409 | pmc = 3899557 | doi = 10.1038/bonekey.2013.212 }}

Cause

Maternal deficiencies may be the cause of overt bone disease from before birth and impairment of bone quality after birth.{{cite journal | vauthors = Elidrissy AT | title = The Return of Congenital Rickets, Are We Missing Occult Cases? | journal = Calcified Tissue International | volume = 99 | issue = 3 | pages = 227–236 | date = September 2016 | pmid = 27245342 | doi = 10.1007/s00223-016-0146-2 | type = Review | s2cid = 14727399 }}{{cite journal | vauthors = Paterson CR, Ayoub D | title = Congenital rickets due to vitamin D deficiency in the mothers | journal = Clinical Nutrition | volume = 34 | issue = 5 | pages = 793–798 | date = October 2015 | pmid = 25552383 | doi = 10.1016/j.clnu.2014.12.006 | type = Review }} The primary cause of congenital rickets is vitamin D deficiency in the mother's blood. Vitamin D ensures that serum phosphate and calcium levels are sufficient to facilitate the mineralization of bone.{{Cite web | url=https://ods.od.nih.gov/factsheets/VitaminD-HealthProfessional/ | title=Office of Dietary Supplements - Vitamin D}} Congenital rickets may also be caused by other maternal diseases, including severe osteomalacia, untreated celiac disease, malabsorption, pre-eclampsia, and premature birth. Rickets in children is similar to osteoporosis in the elderly, with brittle bones. Pre-natal care includes checking vitamin levels and ensuring that any deficiencies are supplemented.{{Cite web | url=http://www.webmd.com/baby/guide/prenatal-vitamins#1 | title=Pregnancy and prenatal vitamins}}

Exclusively breast-fed infants may require rickets prevention by vitamin D supplementation or an increased exposure to sunlight.{{cite journal | vauthors = Balasubramanian S, Ganesh R | title = Vitamin D deficiency in exclusively breast-fed infants | journal = The Indian Journal of Medical Research | volume = 127 | issue = 3 | pages = 250–255 | date = March 2008 | pmid = 18497439 | type = Review }}

In sunny countries such as Nigeria, South Africa, and Bangladesh, there is sufficient endogenous vitamin D due to exposure to the sun. However, the disease occurs among older toddlers and children in these countries, which in these circumstances is attributed to low dietary calcium intakes due to a mainly cereal-based diet.{{cite journal | vauthors = Pettifor JM | title = Nutritional rickets: deficiency of vitamin D, calcium, or both? | journal = The American Journal of Clinical Nutrition | volume = 80 | issue = 6 Suppl | pages = 1725S–1729S | date = December 2004 | pmid = 15585795 | doi = 10.1093/ajcn/80.6.1725S | type = Review | doi-access = free }}

Those at higher risk for developing rickets include:

  • Breast-fed infants whose mothers are not exposed to sunlight
  • Breast-fed infants who are not exposed to sunlight
  • Breast-fed babies who are exposed to little sunlight
  • Adolescents, in particular when undergoing the pubertal growth spurt{{cite journal | vauthors = Glorieux FH, Pettifor JM | title = Vitamin D/dietary calcium deficiency rickets and pseudo-vitamin D deficiency rickets | journal = BoneKEy Reports | volume = 3 | pages = 524 | year = 2014 | pmid = 24818008 | pmc = 4015456 | doi = 10.1038/bonekey.2014.19 | type = Review }}
  • Any child whose diet does not contain enough vitamin D or calcium

Diseases causing soft bones in infants, like hypophosphatasia or hypophosphatemia, can also lead to rickets.{{cite web|title=Hypophosphatasia: Signs and Symptoms|url=http://hypophosphatasia.com/what-hypophosphatasia/signs-and-symptoms|website=Hypophosphatasia.com|access-date=10 September 2014|archive-date=15 October 2014|archive-url=https://web.archive.org/web/20141015143435/http://www.hypophosphatasia.com/what-hypophosphatasia/signs-and-symptoms|url-status=dead}}

Strontium is allied with calcium uptake into bones; at excessive dietary levels strontium has a rachitogenic (rickets-producing) action.{{cite journal | vauthors = Pors Nielsen S | title = The biological role of strontium | journal = Bone | volume = 35 | issue = 3 | pages = 583–588 | date = September 2004 | pmid = 15336592 | doi = 10.1016/j.bone.2004.04.026 }}

=Sunlight=

Sunlight, especially ultraviolet light, lets human skin cells convert vitamin D from an inactive to active state. In the absence of vitamin D, dietary calcium is not properly absorbed, resulting in hypocalcaemia, leading to skeletal and dental deformities and neuromuscular symptoms, e.g. hyperexcitability. Foods that contain vitamin D include butter, eggs, fish liver oils, margarine, fortified milk and juice, portabella and shiitake mushrooms, and oily fishes such as tuna, herring, and salmon. A rare X-linked dominant form exists called vitamin D-resistant rickets or X-linked hypophosphatemia.{{cite journal | vauthors = Wacker M, Holick MF | title = Sunlight and Vitamin D: A global perspective for health | journal = Dermato-Endocrinology | volume = 5 | issue = 1 | pages = 51–108 | date = January 2013 | pmid = 24494042 | pmc = 3897598 | doi = 10.4161/derm.24494 }}

Cases have been reported in Britain in recent yearsDaily Telegraph, page 4, Wednesday 19 January 2011 of rickets in children of many social backgrounds caused by insufficient production in the body of vitamin D because the sun's ultraviolet light was not reaching the skin due to use of strong sunblock, too much "covering up" in sunlight, or not getting out into the sun. Other cases have been reported among the children of some ethnic groups in which mothers avoid exposure to the sun for religious or cultural reasons, leading to a maternal shortage of vitamin D, and people with darker skin need more sunlight to maintain vitamin D levels.{{cite web | url = https://www.independent.co.uk/life-style/health-and-families/health-news/rise-in-rickets-linked-to-ethnic-groups-that-shun-the-sun-2319920.html | title = Rise in rickets linked to ethnic groups that shun the sun | work = The Independent | date = 25 July 2011 | access-date = 25 July 2011 }}{{cite web | url = http://news.bbc.co.uk/1/hi/health/7161458.stm | title = Doctors fear rickets resurgence | work = BBC | date = 28 December 2007 | access-date = 25 July 2011 }}

Rickets had historically been a problem in London, especially during the Industrial Revolution. Persistent thick fog and heavy industrial smog permeating the city blocked out significant amounts of sunlight to such an extent that up to 80 percent of children at one time had varying degrees of rickets in one form or the other.{{cite journal | vauthors = Holick MF | title = Resurrection of vitamin D deficiency and rickets | journal = The Journal of Clinical Investigation | volume = 116 | issue = 8 | pages = 2062–2072 | date = August 2006 | pmid = 16886050 | pmc = 1523417 | doi = 10.1172/JCI29449 }} It is sometimes known "the English Disease" in some foreign languages (e.g. German: {{Lang|de|Die englische Krankheit}}, Dutch: {{Lang|nl|Engelse ziekte}}, Hungarian: {{Lang|hu|angolkór}}, Swedish: {{Lang|sv|engelska sjukan}}).{{cite journal | vauthors = Bivins R | title = "The English disease" or "Asian rickets"? Medical responses to postcolonial immigration | journal = Bulletin of the History of Medicine | volume = 81 | issue = 3 | pages = 533–568 | date = 2007 | pmid = 17873451 | pmc = 2630160 | doi = 10.1353/bhm.2007.0062 }}

=Skin color theory=

Rickets is often a result of vitamin D3 deficiency. The correlation between human skin color and latitude is thought to be the result of positive selection to varying levels of solar ultraviolet radiation. Northern latitudes have selection for lighter skin that allows UV rays to produce vitamin D from 7-dehydrocholesterol. Conversely, latitudes near the equator have selection for darker skin that can block the majority of UV radiation to protect from toxic levels of vitamin D, as well as skin cancer.{{cite journal | vauthors = Loomis WF | title = Skin-pigment regulation of vitamin-D biosynthesis in man | journal = Science | volume = 157 | issue = 3788 | pages = 501–506 | date = August 1967 | pmid = 6028915 | doi = 10.1126/science.157.3788.501 | s2cid = 41681581 | bibcode = 1967Sci...157..501F }}

An anecdote often cited to support this hypothesis is that Arctic populations whose skin is relatively darker for their latitude, such as the Inuit, have a diet that is historically rich in vitamin D. Since these people acquire vitamin D through their diet, there is not a positive selective force to synthesize vitamin D from sunlight.{{cite journal | vauthors = Sharma S, Barr AB, Macdonald HM, Sheehy T, Novotny R, Corriveau A | title = Vitamin D deficiency and disease risk among aboriginal Arctic populations | journal = Nutrition Reviews | volume = 69 | issue = 8 | pages = 468–478 | date = August 2011 | pmid = 21790613 | doi = 10.1111/j.1753-4887.2011.00406.x | doi-access = free }}

Environment mismatch: vitamin D deficiency arises from a mismatch between an individual's previous and current environment. This risk of mismatch increases with advances in transportation methods and increases in urban population size at high latitudes.{{Cite journal |last1=Ames |first1=Bruce N. |last2=Grant |first2=William B. |last3=Willett |first3=Walter C. |date=2021-02-03 |title=Does the High Prevalence of Vitamin D Deficiency in African Americans Contribute to Health Disparities? |journal=Nutrients |volume=13 |issue=2 |pages=499 |doi=10.3390/nu13020499 |doi-access=free |issn=2072-6643 |pmc=7913332 |pmid=33546262}}

Similar to the environmental mismatch when dark-skinned people live at high latitudes, Rickets can also occur in religious communities that require long garments with hoods and veils.{{cite journal | vauthors = Bachrach S, Fisher J, Parks JS | title = An outbreak of vitamin D deficiency rickets in a susceptible population | journal = Pediatrics | volume = 64 | issue = 6 | pages = 871–877 | date = December 1979 | pmid = 574626 | doi = 10.1542/peds.64.6.871 | s2cid = 26050085 }} These hoods and veils act as sunlight barriers that prevent individuals from synthesizing vitamin D naturally from the sun.{{cite web |title=RISE IN RICKETS LINKED TO ETHNIC GROUPS THAT SHUN THE SUN |website=Independent.co.uk |date=24 July 2011 |url=https://www.independent.co.uk/life-style/health-and-families/health-news/rise-in-rickets-linked-to-ethnic-groups-that-shun-the-sun-2319920.html |access-date=21 November 2021}}

In a study by Mithal et al.,{{cite journal |display-authors=6 |vauthors=Mithal A, Wahl DA, Bonjour JP, Burckhardt P, Dawson-Hughes B, Eisman JA, El-Hajj Fuleihan G, Josse RG, Lips P, Morales-Torres J |date=November 2009 |title=Global vitamin D status and determinants of hypovitaminosis D |url=https://pubmed.ncbi.nlm.nih.gov/19543765/ |journal=Osteoporosis International |volume=20 |issue=11 |pages=1807–1820 |doi=10.1007/s00198-009-0954-6 |pmid=19543765 |s2cid=52858668}} vitamin D insufficiency of various countries was measured by lower 25-hydroxyvitamin D. 25(OH) D is an indicator of vitamin D insufficiency that can be easily measured. These percentages should be regarded as relative vitamin D levels, and not as predicting evidence for development of rickets.{{Cite journal |last=Cashman |first=Kevin D. |date=2022-01-11 |title=Global differences in vitamin D status and dietary intake: a review of the data |journal=Endocrine Connections |volume=11 |issue=1 |pages=e210282 |doi=10.1530/EC-21-0282 |issn=2049-3614 |pmc=8789021 |pmid=34860171}}

Asian immigrants living in Europe have an increased risk for vitamin D deficiency. Vitamin D insufficiency was found in 40% of non-Western immigrants in the Netherlands, and in more than 80% of Turkish and Moroccan immigrants.

The Middle East, despite high rates of sun-exposure, has the highest rates of rickets worldwide.{{cite web | url = http://www.iofbonehealth.org/sites/default/files/PDFs/Audit%20Middle%20East_Africa/ME_audit-executive_summary.pdf | title = THE MIDDLE EAST & AFRICA REGIONAL AUDIT, Executive Summary, Epidemiology, costs & burden of osteoporosis in 2011 | archive-url = https://web.archive.org/web/20170825145111/https://www.iofbonehealth.org/sites/default/files/PDFs/Audit%20Middle%20East_Africa/ME_audit-executive_summary.pdf | archive-date=25 August 2017 }} The International Osteoporosis Foundation, www.iofbonehealth.org, retrieved 6 April 2017 This fact can be explained by limited sun exposure due to cultural practices and lack of vitamin D supplementation for breast-feeding women. Up to 70% and 80% of adolescent girls in Iran and Saudi Arabia, respectively, have vitamin D insufficiency. Socioeconomic factors that limit a vitamin D rich diet also plays a role.

In the United States, vitamin D insufficiency varies dramatically by ethnicity. Among females aged 70 years and older, the prevalence of low serum 25(OH) D levels was 28.5% for non-Hispanic whites, 55% for Mexican Americans, and 68% for non-Hispanic blacks. Among males, the prevalence was 23%, 45%, and 58%, respectively.{{citation needed|date=September 2021}}

A systematic review published in the Cochrane Library looked at children up to three years old in Turkey and China and found a beneficial association between vitamin D and rickets. In Turkey, children getting vitamin D had only a 4% chance of developing rickets compared to children who received no medical intervention. In China, a combination of vitamin D, calcium and nutritional counseling was linked to a decreased risk of rickets.{{cite journal | vauthors = Lerch C, Meissner T | title = Interventions for the prevention of nutritional rickets in term born children | journal = The Cochrane Database of Systematic Reviews | volume = 2010 | issue = 4 | pages = CD006164 | date = October 2007 | pmid = 17943890 | pmc = 8990776 | doi = 10.1002/14651858.CD006164.pub2 }}

Parents can supplement their nutritional intake with vitamin D enhanced beverages if they feel their child is at risk for vitamin D deficiency.{{cite journal | vauthors = Weisberg P, Scanlon KS, Li R, Cogswell ME | title = Nutritional rickets among children in the United States: review of cases reported between 1986 and 2003 | journal = The American Journal of Clinical Nutrition | volume = 80 | issue = 6 Suppl | pages = 1697S–1705S | date = December 2004 | pmid = 15585790 | doi = 10.1093/ajcn/80.6.1697S | doi-access = free }}

A 2019 review linked rickets disease to exclusive consumption of Neocate baby formula.{{cite journal | vauthors = Akhtar Ali S, Mathalikunnel A, Bhardwaj V, Braskett M, Pitukcheewanont P | title = Nutritional hypophosphatemic rickets secondary to Neocate® use | journal = Osteoporosis International | volume = 30 | issue = 9 | pages = 1887–1891 | date = September 2019 | pmid = 31143989 | doi = 10.1007/s00198-019-04836-8 | s2cid = 169034641 }}

Diagnosis

File:RicketsXray.jpg File:RicketsChestXray.jpg

Rickets may be diagnosed with the help of:

  • Blood tests:{{cite web| url = http://www.nhs.uk/Conditions/Rickets/Pages/Diagnosis.aspx| title = NHS Choice - Rickets Diagnoses| date = 6 June 2018}}
  • Serum calcium may show low levels of calcium, serum phosphorus may be low, and serum alkaline phosphatase may be high from bones or changes in the shape or structure of the bones. This can show enlarged limbs and joints.
  • A bone density scan may be undertaken.
  • Radiography typically show widening of the zones of provisional calcification of the metaphyses secondary to unmineralized osteoid. Cupping, fraying, and splaying of metaphyses typically appears with growth and continued weight bearing.{{cite journal | vauthors = Cheema JI, Grissom LE, Harcke HT | title = Radiographic characteristics of lower-extremity bowing in children | journal = Radiographics | volume = 23 | issue = 4 | pages = 871–880 | year = 2003 | pmid = 12853662 | doi = 10.1148/rg.234025149 | doi-access = }} These changes are seen predominantly at sites of rapid growth, including the proximal humerus, distal radius, distal femur and both the proximal and the distal tibia. Therefore, a skeletal survey for rickets can be accomplished with anteroposterior radiographs of the knees, wrists, and ankles.

In veterinary practice, rickets, osteodystrophy and mineral metabolism disorders are diagnosed using an ultrasound echosteometer in the design М.М. Orlov and А.V. Savinkov.{{Cite web|url=https://patents.google.com/patent/RU2779304C1/ru|title=Ветеринарный ультразвуковой эхоостеометр для оценки физических характеристик костей скелета животных при их функциональных и патологических изменениях | trans-title = Veterinary ultrasonic echo osteometer for the assessment of physical characteristics of the bones of the skeleton of animals with their functional and pathological changes | language = ru }}{{Cite web|url=https://patenton.ru/patent/RU2779304C1|title=Ветеринарный ультразвуковой эхоостеометр для оценки физических характеристик костей скелета животных при их функциональных и патологических изменениях | trans-title = Veterinary ultrasonic echo osteometer for the assessment of physical characteristics of the bones of the skeleton of animals with their functional and pathological changes | language = ru }}{{cite web | url = https://projects.2035.university/project/portativnyj-veterinarnyj-ultrazvukovoj-ehoosteometr-dla-ocenki-fiziceskih-harakteristik-kostej-skeleta-zivotnyh-pri-ih-funkcionalnyh-i-patologiceskih-izmeneniah | title = ПОРТАТИВНЫЙ ВЕТЕРИНАРНЫЙ УЛЬТРАЗВУКОВОЙ ЭХООСТЕОМЕТР ДЛЯ ОЦЕНКИ ФИЗИЧЕСКИХ ХАРАКТЕРИСТИК КОСТЕЙ СКЕЛЕТА ЖИВОТНЫХ ПРИ ИХ ФУНКЦИОНАЛЬНЫХ И ПАТОЛОГИЧЕСКИХ ИЗМЕНЕНИЯХ | trans-title = Portable Veterinary Ultravocation Echoosteometer For Assessment Of Physical Characteristics Of Animal Skeletal Bones With Functional And Pathological Changes | language = ru }}

=Types=

  • Vitamin D-related rickets{{cite journal | vauthors = Nield LS, Mahajan P, Joshi A, Kamat D | title = Rickets: not a disease of the past | journal = American Family Physician | volume = 74 | issue = 4 | pages = 619–626 | date = August 2006 | pmid = 16939184 | url = http://www.aafp.org/afp/2006/0815/p619.html }}
  • Vitamin D deficiency
  • Vitamin D-dependent rickets (VDDR){{cite journal | vauthors = Levine MA | title = Diagnosis and Management of Vitamin D Dependent Rickets | journal = Frontiers in Pediatrics | volume = 8 | pages = 315 | date = 2020 | pmid = 32596195 | pmc = 7303887 | doi = 10.3389/fped.2020.00315 | doi-access = free }}
  • Type 1: insufficiency in activation
  • VDDR1A: 25-Hydroxyvitamin D3 1-alpha-hydroxylase deficiency
  • VDDR1B: CYP2R1 deficiency
  • Type 2: resistance to calcitriol
  • VDDR2A: calcitriol receptor mutation
  • VDDR2B: unknown nuclear ribonucleoprotein interfering with signal transduction
  • Type 3: excessive inactivation (CYP3A4 mutation, dominant)
  • Hypocalcemia-related rickets
  • Hypocalcemia
  • Chronic kidney failure (CKD-BMD)
  • Hypophosphatemia-related rickets
  • Congenital
  • Vitamin D-resistant rickets
  • Autosomal dominant hypophosphatemic rickets (ADHR)
  • Autosomal recessive hypophosphatemic rickets (ARHR){{cite journal | vauthors = Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, Manor E, Buriakovsky S, Hadad Y, Goding J, Parvari R | display-authors = 6 | title = Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene | journal = American Journal of Human Genetics | volume = 86 | issue = 2 | pages = 273–278 | date = February 2010 | pmid = 20137772 | pmc = 2820183 | doi = 10.1016/j.ajhg.2010.01.010 }}
  • Hypophosphatemia (typically secondary to malabsorption)
  • Fanconi's syndrome
  • Secondary to other diseases
  • Tumor-induced osteomalacia
  • McCune–Albright syndrome
  • Epidermal nevus syndrome
  • Dent's disease

=Differential diagnosis=

Osteochondrodysplasias, also known as genetic bone diseases, may mimic the clinical picture of rickets in regard to the features of bone deformities.{{cite journal| vauthors = El-Sobky TA, Shawky RM, Sakr HM, Elsayed SM, Elsayed NS, Ragheb SG, Gamal R |title=A systematized approach to radiographic assessment of commonly seen genetic bone diseases in children: A pictorial review.|journal= J Musculoskelet Surg Res|volume=1|issue=2|pages=25|date=15 November 2017|doi=10.4103/jmsr.jmsr_28_17|s2cid=79825711 |doi-access= free}} The radiologic picture and the laboratory findings of serum calcium, phosphate and alkaline phosphatase are important differentiating factors. Blount's disease is an important differential diagnosis because it causes knee deformities in a similar fashion to rickets namely bow legs or genu varum. Infants with rickets can have bone fractures. This sometimes leads to child abuse allegations. This issue appears to be more common for solely nursing infants of black mothers, in winter in temperate climates, suffering poor nutrition and no vitamin D supplementation.{{cite journal | vauthors = Keller KA, Barnes PD | title = Rickets vs. abuse: a national and international epidemic | journal = Pediatric Radiology | volume = 38 | issue = 11 | pages = 1210–1216 | date = November 2008 | pmid = 18810424 | doi = 10.1007/s00247-008-1001-z | s2cid = 5848331 }} People with darker skin produce less vitamin D than those with lighter skin, for the same amount of sunlight.{{cite web | vauthors = Walker C | date = 8 July 2011 | work = Live Strong | title=CDark Skin Color & Vitamin D | url=http://www.livestrong.com/article/311881-dark-skin-color-vitamin-d/| access-date = 2 June 2012}}

Treatment

=Diet and sunlight=

Image:Cholecalciferol.svg (D3)]]

Image:Ergocalciferol.svg (D2)]]

Treatment involves increasing dietary intake of calcium, phosphates and vitamin D. Exposure to ultraviolet B light (most easily obtained when the sun is highest in the sky), cod liver oil, halibut-liver oil, and viosterol are all sources of vitamin D.{{cite journal | vauthors = Lamberg-Allardt C | title = Vitamin D in foods and as supplements | journal = Progress in Biophysics and Molecular Biology | volume = 92 | issue = 1 | pages = 33–38 | date = September 2006 | pmid = 16618499 | doi = 10.1016/j.pbiomolbio.2006.02.017 | series = UV exposure guidance: A balanced approach between health risks and health benefits of UV and Vitamin D. Proceedings of an International Workshop, International Commission on Non-ionizing Radiation Protection, Munich, Germany, 17–18 October 2005 | doi-access = free }}

A sufficient amount of ultraviolet B light in sunlight each day and adequate supplies of calcium and phosphorus in the diet can prevent rickets. Darker-skinned people need to be exposed longer to the ultraviolet rays. The replacement of vitamin D has been proven to correct rickets using these methods of ultraviolet light therapy and medicine.

Recommendations are for 400 international units (IU) of vitamin D a day for infants and children. Children who do not get adequate amounts of vitamin D are at increased risk of rickets. Vitamin D is essential for allowing the body to uptake calcium for use in proper bone calcification and maintenance.{{cite web |title=Rickets -- Symptoms and Causes |url=https://www.mayoclinic.org/diseases-conditions/rickets/symptoms-causes/syc-20351943 |website=Mayo Clinic Patient Care and Health Information |publisher=Mayo Clinic |access-date=27 January 2022}}

=Supplementation=

Sufficient vitamin D levels can also be achieved through dietary supplementation and/or exposure to sunlight. Vitamin D3 (cholecalciferol) is the preferred form since it is more readily absorbed than vitamin D2. Most dermatologists recommend vitamin D supplementation as an alternative to unprotected ultraviolet exposure due to the increased risk of skin cancer associated with sun exposure. Endogenous production with full body exposure to sunlight is approximately 250 μg (10,000 IU) per day.{{cite journal | vauthors = Vieth R | title = Vitamin D supplementation, 25-hydroxyvitamin D concentrations, and safety | journal = The American Journal of Clinical Nutrition | volume = 69 | issue = 5 | pages = 842–856 | date = May 1999 | pmid = 10232622 | doi = 10.1093/ajcn/69.5.842 | doi-access = free }}

According to the American Academy of Pediatrics (AAP), all infants, including those who are exclusively breast-fed, may need vitamin D supplementation until they start drinking at least {{convert|17|USfloz|ml}} of vitamin D-fortified milk or formula a day.{{cite journal | vauthors = Gartner LM, Greer FR | title = Prevention of rickets and vitamin D deficiency: new guidelines for vitamin D intake | journal = Pediatrics | volume = 111 | issue = 4 Pt 1 | pages = 908–910 | date = April 2003 | pmid = 12671133 | doi = 10.1542/peds.111.4.908 | doi-access = free }}

Despite this recommendation, a recent Cochrane systematic review has found limited evidence that vitamin D plus calcium, or calcium alone compared to vitamin D improves healing in children with nutritional rickets.{{cite journal | vauthors = Chibuzor MT, Graham-Kalio D, Osaji JO, Meremikwu MM | title = Vitamin D, calcium or a combination of vitamin D and calcium for the treatment of nutritional rickets in children | journal = The Cochrane Database of Systematic Reviews | volume = 2020 | issue = 4 | pages = CD012581 | date = April 2020 | pmid = 32303107 | pmc = 7164979 | doi = 10.1002/14651858.CD012581.pub2 | collaboration = Cochrane Metabolic and Endocrine Disorders Group }}

=Surgery=

Occasionally surgery is needed to correct severe and persistent deformities of the lower limbs, especially around the knees namely genu varum and genu valgum. Surgical correction of rachitic deformities can be achieved through osteotomies or guided growth surgery. Guided growth surgery has almost replaced the use of corrective osteotomies. The functional results of guided growth surgery in children with rickets are satisfactory. While bone osteotomies work through acute/immediate correction of the limb deformity, guided growth works through gradual correction.

Epidemiology

In developed countries, rickets is a rare disease{{cite web | url = http://www.nhs.uk/conditions/Rickets/Pages/Introduction.aspx | work = National Health Service of England | title = Rickets | date = 28 January 2010 }} (incidence of less than 1 in 200,000). Recently, cases of rickets have been reported among children who are not fed enough vitamin D.

In 2013/2014 there were fewer than 700 cases in England.{{cite web | vauthors = Koehler G | date = 20 October 2014 |title=Rickets and osteomalacia|url=https://www.nhs.uk/conditions/rickets-and-osteomalacia/ | archive-url = https://web.archive.org/web/20160423105458/http://www.stmichaelshospital.com/media/detail.php?source=hospital_news/2014/20141020_hn | archive-date = 23 April 2016 |website=nhs.uk|access-date=24 December 2017}} In 2019 the number of cases hospitalised was said to be the highest in 50 years.{{cite news | vauthors = Baraniuk C |title=How going hungry affects children for their whole lives |url=https://www.independent.co.uk/news/long_reads/hunger-food-insecurity-mental-health-physical-food-bank-children-a8859671.html |access-date=4 June 2019 |newspaper=Independent |date=17 May 2019}}

Rickets occurs relatively commonly in the Middle East, Africa, and Asia.

History

File:Skeleton Infant Rickets.jpeg

Greek physician Soranus of Ephesus, one of the chief representatives of the Methodic school of medicine who practiced in Alexandria and subsequently in Rome, reported deformation of the bones in infants as early as the first and second centuries AD. The first use of the word 'rickets' is the handwritten entry for 25 February 1632 in 'Receipt Books' of the Fairfax Family which lists five remedies for 'rickets in children'. The word 'rickets' first occurred in print in 1634 in the Annual Bill of Mortality of the City of London. Rickets was not defined as a specific medical condition until 1645, when an English physician Daniel Whistler gave the earliest known description of the disease.

In 1650, a treatise on rickets was published by Francis Glisson, a physician at Caius College, Cambridge,{{cite web |url=http://www.livinghealthy360.com/index.php/the-history-of-rickets-scurvy-and-other-nutritional-deficiencies-42959/|title= The History of Rickets, Scurvy and Other Nutritional Deficiencies | vauthors = Claerr J |date= 6 February 2008|work= An Interesting Treatise on Human Stupidity|publisher= Yahoo! Voices |archive-url= https://web.archive.org/web/20140702101552/http://www.livinghealthy360.com/index.php/the-history-of-rickets-scurvy-and-other-nutritional-deficiencies-42959/|archive-date= 2014-07-02|url-status=usurped|quote= URL references }} who said it had first appeared about 30 years previously in the counties of Dorset and Somerset.{{cite journal | vauthors = Gibbs D | title = Rickets and the crippled child: an historical perspective | journal = Journal of the Royal Society of Medicine | volume = 87 | issue = 12 | pages = 729–732 | date = December 1994 | pmid = 7503834 | pmc = 1294978 }}

In 1857, John Snow suggested rickets, then widespread in Britain, was being caused by the adulteration of bakers' bread with alum.{{cite journal | vauthors = Dunnigan M | title = Commentary: John Snow and alum-induced rickets from adulterated London bread: an overlooked contribution to metabolic bone disease | journal = International Journal of Epidemiology | volume = 32 | issue = 3 | pages = 340–341 | date = June 2003 | pmid = 12777415 | doi = 10.1093/ije/dyg160 | doi-access = free }}

German pediatrician Kurt Huldschinsky successfully demonstrated in the winter of 1918–1919 how rickets could be treated with ultraviolet lamps.

Between 1918 and 1920, the role of diet in the development of rickets was determined by Edward Mellanby.{{cite journal | vauthors = Pileggi VJ, De Luca HF, Steenbock H | title = The role of vitamin D and intestinal phytase in the prevention of rickets in rats on cereal diets | journal = Archives of Biochemistry and Biophysics | volume = 58 | issue = 1 | pages = 194–204 | date = September 1955 | pmid = 13259690 | doi = 10.1016/0003-9861(55)90106-5 }}{{cite journal | vauthors = Ford JA, Colhoun EM, McIntosh WB, Dunnigan MG | title = Biochemical response of late rickets and osteomalacia to a chupatty-free diet | journal = British Medical Journal | volume = 3 | issue = 5824 | pages = 446–447 | date = August 1972 | pmid = 5069221 | pmc = 1786011 | doi = 10.1136/bmj.3.5824.446 }}

In 1923, American physician Harry Steenbock demonstrated that irradiation by ultraviolet light increased the vitamin D content of foods and other organic materials. Steenbock's irradiation technique was used for foodstuffs, but most memorably for milk.

By 1945, rickets had all but been eliminated in the United States.{{Cite journal |last1=Bouillon |first1=Roger |last2=Antonio |first2=Leen |date=2020 |title=Nutritional rickets: Historic overview and plan for worldwide eradication |url=https://doi.org/10.1016/j.jsbmb.2019.105563 |journal=The Journal of Steroid Biochemistry and Molecular Biology |volume=198 |pages=105563 |doi=10.1016/j.jsbmb.2019.105563 |pmid=31809867 |issn=0960-0760|url-access=subscription }}

However, beginning around 2003, rickets reemerged as an issue in the US for some populations{{Cite journal |last1=Rajakumar |first1=Kumaravel |last2=Thomas |first2=Stephen B. |date=2005-04-01 |title=Reemerging Nutritional Rickets: A Historical Perspective |url=http://archpedi.jamanetwork.com/article.aspx?doi=10.1001/archpedi.159.4.335 |journal=Archives of Pediatrics & Adolescent Medicine |language=en |volume=159 |issue=4 |pages=335–341 |doi=10.1001/archpedi.159.4.335 |pmid=15809385 |issn=1072-4710|url-access=subscription }} causing the American Academy of Pediatrics recommended that all infants have Vitamin D intake of 200 IU per day.{{cite journal | pmc=3612965 | date=2013 | last1=Thacher | first1=T. D. | last2=Fischer | first2=P. R. | last3=Tebben | first3=P. J. | last4=Singh | first4=R. J. | last5=Cha | first5=S. S. | last6=Maxson | first6=J. A. | last7=Yawn | first7=B. P. | title=Increasing Incidence of Nutritional Rickets: A Population-Based Study in Olmsted County, Minnesota | journal=Mayo Clinic Proceedings. Mayo Clinic | volume=88 | issue=2 | pages=176–183 | doi=10.1016/j.mayocp.2012.10.018 | pmid=23374621 }}

=Etymology=

The word rickets may be from the Old English word {{Lang|ang|wrickken}} ('to twist'), although because this is conjectured, several major dictionaries simply say "origin unknown". The name rickets is plural in form but usually singular in construction. The Greek word {{Lang|grc-latn|rachitis}} ({{Lang|grc|ῥαχίτης}}, meaning 'in or of the spine') was later adopted as the scientific term for rickets, due chiefly to the words' similarity in sound.

See also

References

{{Reflist}}