Dent disease type 2 due to <i>OCRL1</i> mutation in a boy with rickets
We report a case of an Indian boy who presented with rickets and was thought to have nutritional vitamin D deficiency rickets precipitated by the use of anticonvulsant medications. The presence of proteinuria and lack of normalization of alkaline phosphatase prompted further evaluation which was suggestive of type 2 Dent disease secondary to mutations in the OCRL1 gene. The case highlights the importance of urine routine, a simple yet useful test in the evaluation of rickets.
Authors
- Ganesh Jevalikar (ORCID: https://orcid.org/0000-0003-0304-5880)
- Ambrish Mithal (ORCID: https://orcid.org/0000-0002-0822-3212)
- Abhyuday Singh Rana
- Sidharth Kumar Sethi (ORCID: https://orcid.org/0000-0002-1516-3393)
Institutions
- Medanta The Medicity (IN)
- Max Healthcare (IN)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Diabetes
- Published
- 2025-03-06
- DOI
- https://doi.org/10.25259/jped_46_2024
- Citations
- 1
- Primary Topic
- Bone and Dental Protein Studies
- Type
- article
- Field-Weighted Citation Impact
- 1.67