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

Authors

  • 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

DOI:

https://doi.org/10.31729/jnma.6411

Keywords:

cinacalcet, rickets, vitamin D

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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Published

2021-07-01

How to Cite

Sunuwar, N., Gautam, S., Twayana, A., Adhikari Yadav, S., Anjum, F., & Kandel, K. (2021). Hereditary Vitamin-D Dependent Rickets Type II: A Case Report. Journal of Nepal Medical Association, 59(238), 597–600. https://doi.org/10.31729/jnma.6411

Issue

Vol. 59 No. 238 (2021): JNMA: Published Monthly

Section

Case Reports

License

Copyright (c) 2021 Neela Sunuwar, Swotantra Gautam, Anu Radha Twayana, Saroj Adhikari Yadav, Firoz Anjum, Kriti Kandel

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