Genetic evaluation of paediatric nephrocalcinosis: phenotype-driven genetic panels reveal a rare diagnosis

Patterson, J., Jacob, Z. and Reynolds, B. C. (2022) Genetic evaluation of paediatric nephrocalcinosis: phenotype-driven genetic panels reveal a rare diagnosis. Clinical Kidney Journal, 15(4), pp. 812-815. (doi: 10.1093/ckj/sfab279) (PMID:35371448)

Abstract

Monogenic causes of paediatric nephrocalcinosis are associated with extensive phenotypic variability. We report a 14-year-old male who presented at eight years of age with incidentally identified nephrocalcinosis alongside growth impairment and dental anomalies. Extensive genetic investigation confirmed a molecular diagnosis of Bartter syndrome type II (BSII). This is exceptional in both late presentation and the presence of amelogenesis imperfecta, a very rare association of inherited tubulopathies. Details of the nephrocalcinosis gene panel analysed and associated phenotypes are presented to highlight the utility of a phenotype-driven genetic panel in resolving an atypical presentation of nephrocalcinosis, allowing precise diagnosis, tailored therapy and prognostication.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Patterson, Dr Jenny and Reynolds, Dr Ben
• Authors: Patterson, J., Jacob, Z., and Reynolds, B. C.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: Clinical Kidney Journal
• Publisher: Oxford University Press
• ISSN: 2048-8505
• ISSN (Online): 2048-8513
• Published Online: 17 December 2021
• Copyright Holders: Copyright © 2021 The Authors
• First Published: First published in Clinical Kidney Journal 15(4): 812-815
• Publisher Policy: Reproduced under a Creative Commons Licence