Long term follow up of a patient with type I vitamin D-dependent rickets

Velásquez-Jones, Luis; Medeiros, Mara; Valverde-Rosas, Saúl; Jiménez-Triana, Clímaco; del Moral-Espinosa, Irma; Romo-Vázquez, José Carlos; Franco-Alvarez, Isidro

doi:10.1016/j.bmhimx.2015.03.008

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Boletín médico del Hospital Infantil de México

versão impressa ISSN 1665-1146

Resumo

VELASQUEZ-JONES, Luis et al. Long term follow up of a patient with type I vitamin D-dependent rickets. Bol. Med. Hosp. Infant. Mex. [online]. 2015, vol.72, n.3, pp.190-194. ISSN 1665-1146. https://doi.org/10.1016/j.bmhimx.2015.03.008.

BACKGROUND:

Vitamin D dependent rickets type I is a rare hereditary disease due to a mutation in CYP27B1 encoding the 1α-hydroxylase gene. Clinically, the condition is characterized by hypocalcemic rickets in early infancy due to a deficit in the production of the vitamin D active metabolite 1,25-dihydroxy-vitamin D3.

CASE REPORT:

We report the case of a patient diagnosed at 11 months with follow-up until 9 years of age.

CONCLUSIONS:

The pathophysiology of the disease and the relevance of early diagnosis and management are discussed.

Palavras-chave : Vitamin D dependent type I rickets; 1α,25-dihydroxy-vitamin D₃ selective deficiency; 25(OH)D₃-1α-hydroxylase; Rickets.

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