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Hypocalcemic rickets

MedGen UID:
927864
•Concept ID:
C4302195
•
Disease or Syndrome
Synonyms: Calciopenic rickets; calcium deficiency rickets; hypocalcemic rickets
SNOMED CT: Hypocalcemic rickets (722947004)
 
Monarch Initiative: MONDO:0017323
Orphanet: ORPHA289103

Definition

A group of rare genetic, vitamin D metabolism disorders characterized by hypocalcemia and rickets, and comprising of hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR). Characteristic clinical features include slow growth, bone pain and bone deformities. HVDRR is associated with resistance to vitamin D treatment. [from ORDO]

Professional guidelines

PubMed

Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review.
Dodamani MH, Sehemby M, Memon SS, Sarathi V, Lila AR, Chapla A, Bhandare VV, Patil VA, Shah NS, Thomas N, Kunwar A, Bandgar TR
J Pediatr Endocrinol Metab 2021 Dec 20;34(12):1505-1513. Epub 2021 Sep 8 doi: 10.1515/jpem-2021-0403. PMID: 34492747
Nutritional rickets & osteomalacia: A practical approach to management.
Uday S, Högler W
Indian J Med Res 2020 Oct;152(4):356-367. doi: 10.4103/ijmr.IJMR_1961_19. PMID: 33380700Free PMC Article
Spot the silent sufferers: A call for clinical diagnostic criteria for solar and nutritional osteomalacia.
Uday S, Högler W
J Steroid Biochem Mol Biol 2019 Apr;188:141-146. Epub 2019 Jan 14 doi: 10.1016/j.jsbmb.2019.01.004. PMID: 30654108

Recent clinical studies

Etiology

Normal bone mass and normocalcemia in adulthood despite homozygous vitamin D receptor mutations.
Damiani FM, Martin RM, Latronico AC, Ferraz-de-Souza B
Osteoporos Int 2015 Jun;26(6):1819-23. Epub 2015 Feb 24 doi: 10.1007/s00198-015-3076-3. PMID: 25708797
Vitamin D deficiency rickets in an adolescent with severe atopic dermatitis.
Borzutzky A, Grob F, Camargo CA Jr, Martinez-Aguayo A
Pediatrics 2014 Feb;133(2):e451-4. Epub 2014 Jan 27 doi: 10.1542/peds.2013-1114. PMID: 24470638
Hypocalcemic rickets and dilated cardiomyopathy: case reports and review of literature.
Brown J, Nunez S, Russell M, Spurney C
Pediatr Cardiol 2009 Aug;30(6):818-23. Epub 2009 Apr 23 doi: 10.1007/s00246-009-9444-z. PMID: 19387720
Endotoxin stimulated nitroblue-tetrazolium (NBT)-test in patients with hypoparathyroidism, pseudohypoparathyroidism and other forms of hypocalcemia.
Andler W, Stolecke H, Funk R, Hierholzer E
Eur J Pediatr 1978 Mar 13;127(3):191-6. doi: 10.1007/BF00442060. PMID: 206441
Association of osteopetrosis and vitamin D-resistant rickets.
Zamboni G, Cecchettin M, Marradi P, Foradori M, Zoppi G
Helv Paediatr Acta 1977 Nov;32(4-5):363-8. PMID: 217852

Diagnosis

A severe presentation of vitamin D-dependent hypocalcemic rickets associated with hypophosphatemia.
Vale G, Cardoso L, Francisco T
J Bras Nefrol 2023 Jul-Sep;45(3):378-379. doi: 10.1590/2175-8239-JBN-2023-0044en. PMID: 37815431Free PMC Article
Vitamin D deficiency rickets in an adolescent with severe atopic dermatitis.
Borzutzky A, Grob F, Camargo CA Jr, Martinez-Aguayo A
Pediatrics 2014 Feb;133(2):e451-4. Epub 2014 Jan 27 doi: 10.1542/peds.2013-1114. PMID: 24470638
Hypocalcemic rickets and dilated cardiomyopathy: case reports and review of literature.
Brown J, Nunez S, Russell M, Spurney C
Pediatr Cardiol 2009 Aug;30(6):818-23. Epub 2009 Apr 23 doi: 10.1007/s00246-009-9444-z. PMID: 19387720

Therapy

Vitamin D deficiency rickets in an adolescent with severe atopic dermatitis.
Borzutzky A, Grob F, Camargo CA Jr, Martinez-Aguayo A
Pediatrics 2014 Feb;133(2):e451-4. Epub 2014 Jan 27 doi: 10.1542/peds.2013-1114. PMID: 24470638
Copper deficiency and hypocalcemic rickets in a small-for-date infant.
Sann L, David L, Galy G, Romand-Monier M
Acta Paediatr Scand 1978 May;67(3):303-7. doi: 10.1111/j.1651-2227.1978.tb16325.x. PMID: 654908
Endotoxin stimulated nitroblue-tetrazolium (NBT)-test in patients with hypoparathyroidism, pseudohypoparathyroidism and other forms of hypocalcemia.
Andler W, Stolecke H, Funk R, Hierholzer E
Eur J Pediatr 1978 Mar 13;127(3):191-6. doi: 10.1007/BF00442060. PMID: 206441
Association of osteopetrosis and vitamin D-resistant rickets.
Zamboni G, Cecchettin M, Marradi P, Foradori M, Zoppi G
Helv Paediatr Acta 1977 Nov;32(4-5):363-8. PMID: 217852

Prognosis

Normal bone mass and normocalcemia in adulthood despite homozygous vitamin D receptor mutations.
Damiani FM, Martin RM, Latronico AC, Ferraz-de-Souza B
Osteoporos Int 2015 Jun;26(6):1819-23. Epub 2015 Feb 24 doi: 10.1007/s00198-015-3076-3. PMID: 25708797
Hypocalcemic rickets and dilated cardiomyopathy: case reports and review of literature.
Brown J, Nunez S, Russell M, Spurney C
Pediatr Cardiol 2009 Aug;30(6):818-23. Epub 2009 Apr 23 doi: 10.1007/s00246-009-9444-z. PMID: 19387720

Clinical prediction guides

Vitamin D deficiency rickets in an adolescent with severe atopic dermatitis.
Borzutzky A, Grob F, Camargo CA Jr, Martinez-Aguayo A
Pediatrics 2014 Feb;133(2):e451-4. Epub 2014 Jan 27 doi: 10.1542/peds.2013-1114. PMID: 24470638

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