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JNMA J Nepal Med Assoc ; 59(238): 597-600, 2021 Jul 01.
Article in English | MEDLINE | ID: mdl-34508408

ABSTRACT

Hereditary vitamin D dependent rickets type II is a rare genetic disorder in children characterized by early onset of rickets and deranged biochemical parameters. Low serum calcium level, high alkaline phosphatase, high parathyroid hormone, and high values of 1,25-dihydroxy vitamin D are characteristic biochemical findings. We are reporting a rare case of Vitamin D Dependent Rickets and subsequent improvement after addition of cinacalcet. This is a case report of a 2.5-year-child with Hereditary Vitamin D Dependent Rickets type II receiving cinacalcet as adjunct to oral calcium and calcitriol. Oral cinacalcet (0.25mg/kg/day) was added to the regimen as an adjunct after treatment failure with high dose of oral calcium and calcitriol. A significant improvement in radiological findings and normal homeostasis of calcium, phosphate and parathyroid hormone was achieved after initiation of cinacalcet.


Subject(s)
Familial Hypophosphatemic Rickets , Calcium , Familial Hypophosphatemic Rickets/diagnosis , Familial Hypophosphatemic Rickets/drug therapy , Familial Hypophosphatemic Rickets/genetics , Humans , Parathyroid Hormone , Vitamin D , Vitamins/therapeutic use
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