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Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach

Lookup NU author(s): Professor John SayerORCiD

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Abstract

© 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.


Publication metadata

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


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Funding

Funder referenceFunder name
Dutch Kidney Foundation (18OKG19)
Kidney Research UK
Northern Counties Kidney Research Fund

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