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

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.