• JNMA J Nepal Med Assoc · Jul 2021

    Case Reports

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

    • Neela Sunuwar, Swotantra Gautam, Anuradha Twayana, Adhikari YadavSarojSDepartment of Paediatrics, Patan Academy of Health Sciences, Lalitpur, Nepal., Firoz Anjum, and Kriti Kandel.
    • B. P. Koirala Institute of Health Sciences, Dharan, Nepal.
    • JNMA J Nepal Med Assoc. 2021 Jul 1; 59 (238): 597-600.

    AbstractHereditary 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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