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.

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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
Controls
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article

Dent disease type 2 due to OCRL1 mutation in a boy with rickets

Ganesh Jevalikar, Ambrish Mithal, Abhyuday Singh Rana, Sidharth Kumar Sethi
1 citations
Journal of Pediatric Endocrinology and Diabetes
Bone and Dental Protein Studies
1.67
article

Dent disease type 2 due to OCRL1 mutation in a boy with rickets

Ganesh Jevalikar, Ambrish Mithal, Abhyuday Singh Rana, Sidharth Kumar Sethi
article en
1 citations

Abstract

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.

Journal of Pediatric Endocrinology and DiabetesVol. 4
Medanta The Medicity (IN), Max Healthcare (IN)
Openalex Percentile: Top 20%
Bone and Dental Protein Studies
1.67
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Dent disease type 2 due to <i>OCRL1</i> mutation in a boy with rickets — Ganesh Jevalikar, Ambrish Mithal, et al. · Journal of Pediatric Endocrinology and Diabetes (2025) | TGRS Research Map | TGRS