Publication:
Hereditary Vitamin-D Dependent Rickets Type II: A Case Report

Date

2021

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Nepal Medical Association

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Abstract

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.

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Neela Sunuwar B. P. Koirala Institute of Health Sciences, Dharan, Nepal https://orcid.org/0000-0002-7377-8062 Swotantra Gautam Kathmandu University School of Medical Sciences, Dhulikhel, Nepal Anuradha Twayana Kathmandu University School of Medical Sciences, Dhulikhel, Nepal Saroj Adhikari Yadav Department of Paediatrics, Patan Academy of Health Sciences, Lalitpur, Nepal. Firoz Anjum Department of Paediatrics, Patan Academy of Health Sciences, Lalitpur, Nepal Kriti Kandel Department of Paediatrics, Patan Academy of Health Sciences, Lalitpur, Nepal

Keywords

cinacalcet, rickets, vitamin D

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