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

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 characteris...

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Detalles Bibliográficos
Autores principales: Sunuwar, Neela, Gautam, Swotantra, Twayana, Anu Radha, Yadav, Saroj Adhikari, Anjum, Firoz, Kandel, Kriti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Journal of the Nepal Medical Association 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8369553/
https://www.ncbi.nlm.nih.gov/pubmed/34508408
http://dx.doi.org/10.31729/jnma.6411
Descripción
Sumario: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.