Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by <i>CYP27B1</i> mutation in resource limited countries-Reference-Cited by-同舟云学术

Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries

Published:2022-12-19 Issue:0 Volume:0 Page:
ISSN:0334-018X
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:en
Short-container-title:

Author:

Aftab Sommayya¹²^ORCID,Khan Sabeen Abid³^ORCID,Malik Munir Iqbal⁴⁵,Imran Ahmed⁶,Anjum Muhammad Nadeem⁷,Saeed Anjum⁷,Qureshi Abid Ali⁶,Cheema Huma Arshad⁷

Affiliation:

1. Department of Paediatric Endocrinology and Diabetes , University of Child Health Sciences, The Children’s Hospital , Lahore , Pakistan

2. Paediatric Endocrinology , Hameed Lateef Hospital , Lahore , Pakistan

3. Department of Paediatrics, Shifa College of Medicine , Shifa Tameer-r-Millat University , Islamabad , Pakistan

4. Department of Paediatrics , Shifa College of Medicine, Shifa Tameer-e-Millat University , Islamabad , Pakistan

5. Consultant Paediatric Gastroenterologist , Shifa International Hospital , Islamabad , Pakistan

6. Department of Paediatric Radiology , University of Child Health Sciences, The Children’s Hospital , Lahore , Pakistan

7. Department of Paediatric Gastroenterology, Hepatology and Nutrition , University of Child Health Sciences, The Children’s Hospital , Lahore , Pakistan

Abstract

Abstract Objectives Vitamin D dependent rickets type 1A (VDDR1A) is a rare autosomal recessive condition due to inactivating mutation of CYP27B1. It mimics clinically, biochemically and rediologically to nutritional and hypophosphatemic rickets. In developing countries like Pakistan, VDDR1A is often misdiagnosed as nutritional rickets or hypophosphatemic rickets due lack of free access to 1,25 (OH) 2 D level and genetic testing. This study was aimed to determine the clinical spectrum and diagnostic challenges of VDDR1A due to CYP27B1 mutation in developing countries. Methodology Retrospective review of all cases of VDDR1A due to CYP27B1 mutation over a period of two years presenting in Pediatric Endocrine clinic of Hameed Latif Hospital, Lahore, Pakistan. Results Six cases of VDDR1A (4 males) were identified. Mean age of clinical manifestation was 14 (9–24) months. Mean age of presentation to endocrine department was 5.5 (1.5–11.8) years. Growth failure and bony deformities were the most common presentation (n=6), followed by repeated diarrheas and abdominal distension (n=3) and recurrent fractures (n=1). All cases shared same biochemical profile of low/normal calcium, hypophosphatemia, raised alkaline phosphatase, raised PTH, normal/high 25(OH)D and tubular reabsorption of phosphate (TRP) <85%. Patients treated with calcitriol showed rapid healing as compared to those treated with 1-alfacalcidol. Conclusion We should have a high index of suspicion of VDDR1A in rickets not responding to cholecalciferol therapy.

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2022-0550/pdf

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