Browse by author
Lookup NU author(s): Professor John SayerORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2024 The Author(s). Published by S. Karger AG, Basel. Medullary sponge kidney (MSK) is a description of radiographic features. However, the pathogenesis of MSK remains unclear. MSK is supposed to be the cause of secondary distal renal tubular acidosis (dRTA), although there are case reports suggesting that MSK is a complication of primary dRTA. In addition to these reports, we report 3 patients with metabolic acidosis and MSK, in whom primary dRTA is confirmed by molecular genetic analyses of SLC4A1 and ATP6V1B1 genes. With a comprehensive genetics-first approach using the 100,000 Genomes Rare Diseases Project dataset, the association between MSK and primary dRTA is examined. We showed that many patients with MSK phenotypes are genetically tested with a gene panel which does not contain dRTAassociated genes, revealing opportunities for missed genetic diagnosis. Our cases highlight that the radiological description of MSK is not a straightforward disease or clinical phenotype. Therefore, when an MSK appearance is noted, a broader set of causes should be considered including genetic causes of primary dRTA as the underlying reason for medullary imaging abnormalities.
Author(s): Van Den Berg G, Claus LR, Van Der Zwaag B, Lakeman P, Kaasenbrood L, Sayer JA, Lilien MR, Van Eerde AM
Publication type: Article
Publication status: Published
Journal: Nephron
Year: 2024
Volume: 148
Issue: 8
Pages: 569–577
Print publication date: 01/08/2024
Online publication date: 08/03/2024
Acceptance date: 21/02/2024
Date deposited: 11/06/2024
ISSN (print): 1660-8151
ISSN (electronic): 2235-3186
Publisher: S. Karger AG
URL: https://doi.org/10.1159/000538037
DOI: 10.1159/000538037
Data Access Statement: All data generated or analyzed during this study are included in this published article [and its supplementary information files]. Genomics England PanelApp is available at https://panelapp. genomicsengland.co.uk.
PubMed id: 38447554
Altmetrics provided by Altmetric