Compound Heterozygous Variants of CYP27B1 Causing Autosomal Recessive Vitamin D-Dependent Rickets Type 1A in an Indian Child
Background: Vitamin D-dependent rickets Type 1A (VDDR-1A) is a rare cause of rickets occurring due to variants of CYP27B1 responsible for encoding enzyme 1ά hydroxylase. Clinical Description: We report a 17-months-old girl who presented to us with clinical and radiological features of rickets. The...
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| Main Authors: | , , |
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| Format: | Book |
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Wolters Kluwer Medknow Publications,
2024-05-01T00:00:00Z.
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| Summary: | Background: Vitamin D-dependent rickets Type 1A (VDDR-1A) is a rare cause of rickets occurring due to variants of CYP27B1 responsible for encoding enzyme 1ά hydroxylase. Clinical Description: We report a 17-months-old girl who presented to us with clinical and radiological features of rickets. The biochemistry investigations suggestive of low calcium, low phosphorous, markedly elevated alkaline phosphatase and parathyroid hormone, high-normal 25 hydroxy Vitamin D level and inappropriately normal 1,25 dihydroxy Vitamin D levels, and no response to oral calcium and Vitamin D supplementation, prompted the diagnosis of VDDR-1A, which was proven genetically with a novel compound heterozygous variant. Management and Outcome: She was treated with oral calcitriol 1.5 μg/day and oral elemental calcium at 500 mg/day; after which at the 3-month follow-up, improvement in clinical, biochemical, and radiological features was observed. Conclusion: Following a clinical diagnosis of VDDR, genetic analysis is preferable to identify the variant and hence understand the genotype-phenotype correlation. |
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| Item Description: | 2772-5170 2772-5189 10.4103/ipcares.ipcares_196_23 |