Rickets

Not to be confused with rickettsia or osteogenesis imperfecta.
For the surname, see Ricketts.

Rickets
X-ray of a two-year-old with rickets, with a marked bowing of the femurs and decreased bone density
Pronunciation
SpecialtyPediatrics, rheumatology, dietetics
SymptomsBowed legs, stunted growth, bone pain, large forehead, trouble sleeping[1][2][3]
ComplicationsBone fractures, muscle spasms, abnormally curved spine, intellectual disability[3]
Usual onsetChildhood[3]
CausesDiet without enough vitamin D or calcium, too little sun exposure, exclusive breastfeeding without supplementation, celiac disease, certain genetic conditions[2][3][4]
Diagnostic methodBlood tests, X-rays[2]
Differential diagnosisFanconi syndrome, scurvy, Lowe syndrome, osteomalacia[3]
PreventionVitamin D supplements for exclusively-breastfed babies[5]
TreatmentVitamin D and calcium[2]
FrequencyRelatively common (Middle East, Africa, Asia)[4]

Rickets, scientific nomenclature: rachitis (from Greek ῥαχίτης rhakhítēs,[6] meaning 'in or of the spine'), is a condition that results in weak or soft bones in children and is caused by either dietary deficiency or genetic causes.[2] Symptoms include bowed legs, stunted growth, bone pain, large forehead, and trouble sleeping.[2][3] Complications may include bone deformities, bone pseudofractures and fractures, muscle spasms, or an abnormally curved spine.[2][3] The analogous condition in adults is osteomalacia.

The most common cause of rickets is a vitamin D deficiency, although hereditary genetic forms also exist.[2] 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.[2][3] Other factors may include not enough calcium or phosphorus.[4][5] The underlying mechanism involves insufficient calcification of the growth plate.[7] Diagnosis is generally based on blood tests finding a low calcium, low phosphorus, and a high alkaline phosphatase together with X-rays.[2]

Prevention for exclusively breastfed babies is vitamin D supplements.[5] Otherwise, treatment depends on the underlying cause.[2] If due to a lack of vitamin D, treatment is usually with vitamin D and calcium.[2] This generally results in improvements within a few weeks.[2] Bone deformities may also improve over time.[5] Occasionally surgery may be performed to correct bone deformities.[8][3] Genetic forms of the disease typically require specialized treatment.[5]

Rickets occurs relatively commonly in the Middle East, Africa, and Asia.[4] It is generally uncommon in the United States and Europe, except among certain minority groups[3][4] but rates have been increasing among some populations.[9]It begins in childhood, typically between the ages of 3 and 18 months old.[3][4] Rates of disease are equal in males and females.[3] Cases of what is believed to have been rickets have been described since the 1st century,[10] and the condition was widespread in the Roman Empire.[11] The disease was common into the 20th century.[10] Early treatments included the use of cod liver oil.[10]

  1. ^ Elder CJ, Bishop NJ (May 2014). "Rickets". Lancet. 383 (9929): 1665–1676. doi:10.1016/S0140-6736(13)61650-5. PMID 24412049. S2CID 208788707.
  2. ^ a b c d e f g h i j k l m "Rickets". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. 2013. Retrieved 19 December 2017.
  3. ^ a b c d e f g h i j k l "Rickets, Vitamin D Deficiency". NORD (National Organization for Rare Disorders). 2005. Retrieved 19 December 2017.
  4. ^ a b c d e f Creo AL, Thacher TD, Pettifor JM, Strand MA, Fischer PR (May 2017). "Nutritional rickets around the world: an update". Paediatrics and International Child Health. 37 (2): 84–98. doi:10.1080/20469047.2016.1248170. PMID 27922335. S2CID 6146424.
  5. ^ a b c d e "Rickets - OrthoInfo - AAOS". September 2010. Retrieved 19 December 2017.
  6. ^ "ῥαχίτης" [ῥachitis]. Greek Word Study Tool (in Greek).
  7. ^ Florin T, Ludwig S, Aronson PL, Werner HC (2011). Netter's Pediatrics E-Book. Elsevier Health Sciences. p. 430. ISBN 978-1455710645.
  8. ^ El-Sobky TA, Samir S, Baraka MM, Fayyad TA, Mahran MA, Aly AS, et al. (January 2020). "Growth Modulation for Knee Coronal Plane Deformities in Children With Nutritional Rickets: A Prospective Series With Treatment Algorithm". Journal of the American Academy of Orthopaedic Surgeons. Global Research & Reviews. 4 (1): e19.00009. doi:10.5435/JAAOSGlobal-D-19-00009. PMC 7028784. PMID 32159063.
  9. ^ Cite error: The named reference aap01 was invoked but never defined (see the help page).
  10. ^ a b c Rajakumar K (August 2003). "Vitamin D, cod-liver oil, sunlight, and rickets: a historical perspective". Pediatrics. 112 (2): e132–e135. doi:10.1542/peds.112.2.e132. PMID 12897318.
  11. ^ Brown M (19 August 2018). "Evidence in the bones reveals rickets in Roman times". The Guardian. Retrieved 20 August 2018.