Open AccessHereditary Vitamin-D Dependent Rickets Type II: A Case Report
Author(s) -
Neela Sunuwar,
Swotantra Gautam,
Anuradha Twayana,
Saroj Adhikari Yadav,
Firoz Anjum,
Kriti Kandel
Publication year - 2021
Publication title -
journal of nepal medical association
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.176
H-Index - 19
eISSN - 1815-672X
pISSN - 0028-2715
DOI - 10.31729/jnma.6411
Subject(s) - rickets , medicine , cinacalcet , calcitriol , vitamin d and neurology , parathyroid hormone , endocrinology , calcium , vitamin d deficiency , osteomalacia , secondary hyperparathyroidism , regimen
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.