Vitamin D dependent rickets type 2A: a case series of two siblings with novel mutation in vitamin D receptor gene responded to high dose oral calcium and calcitriol

Noor-ul-ain Mehak; Sommayya Aftab; Abid Ali Qureshi; Anjum Saeed; Huma Arshad Cheema

doi:10.1515/jpem-2024-0611

Article

Vitamin D dependent rickets type 2A: a case series of two siblings with novel mutation in vitamin D receptor gene responded to high dose oral calcium and calcitriol

Noor-ul-ain Mehak , Sommayya Aftab , Abid Ali Qureshi , Anjum Saeed and Huma Arshad Cheema

Published/Copyright: April 14, 2025

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 38 Issue 7

Abstract

Objectives

Vitamin D dependent rickets type 2A (VDD2A) is a rare autosomal recessive disorder due to mutation in vitamin D receptor (VDR) gene leading to hypocalcemia, secondary hyperparathyroidism and signs of rickets. We are reporting case series of two siblings with VDDR2A who were managed in a non-conventional manner (oral calcium and oral vitamin D) in a tertiary care hospital of resource limited country.

Case presentation

Two male siblings presented at the age of 10 years (case 1) and 11.5 years (case 2) with the complaints of short stature and walking difficulty since 4 and 1.5 year of age respectively. They were born to consanguineous parents with a history of two maternal cousins having the same complaints. The investigations showed frank rickets findings on imaging with biochemical evidence of hypocalcemia, hypophosphatemia, raised levels of alkaline phosphatase and raised parathyroid hormone with normal 25-OH vitamin D levels and raised 1,25(OH)₂D₃ levels confirming the diagnosis of calcipenic rickets. The whole exome sequencing (WES) of case 1 (younger sibling) showed that he was carrying a novel homozygous variant in VDR gene c.1354C>T, p(Arg452Cys). They both are being managed on high doses of oral calcium supplements and activated form of vitamin D.

Conclusions

VDDR2A can present with or without alopecia.It can be managed with high doses of oral calcium and vitamin D supplements in resource limited areas.

Keywords: rickets; vitamin D dependent rickets; hereditary vitamin D resistant rickets

Corresponding author: Dr. Sommayya Aftab, Associate Professor Paediatric Endocrinology, Department of Paediatric Endocrinology and Diabetes, University of Child Health Sciences, The Children’s Hospital, Lahore, Pakistan, E-mail: Sommayya_aftab@yahoo.com

Research ethics: Not applicable.
Informed consent: Not applicable.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Use of Large Language Models, AI and Machine Learning Tools: None declared.
Conflict of interest: The authors state no conflict of interest.
Research funding: None declared.
Data availability: Not applicable.
Parents/patients consent: Consent taken for publishing the data.

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Received: 2024-12-17

Accepted: 2025-03-20

Published Online: 2025-04-14

Published in Print: 2025-07-28

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Articles in the same Issue

https://doi.org/10.1515/jpem-2024-0611

Keywords for this article

rickets; vitamin D dependent rickets; hereditary vitamin D resistant rickets