AI Article Synopsis
- * There are conflicting reports suggesting that MSK may be either a consequence of secondary distal renal tubular acidosis (dRTA) or a complication of primary dRTA, with recent cases confirming the latter through genetic analysis.
- * A comprehensive genetic analysis revealed that many patients with MSK are not tested for genes related to dRTA, indicating that the diagnosis of MSK should consider a wider range of genetic factors, particularly those linked to primary dRTA.
Article Abstract
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 dRTA-associated 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11332308 | PMC |
| http://dx.doi.org/10.1159/000538037 | DOI Listing |
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Article Synopsis
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- * A comprehensive genetic analysis revealed that many patients with MSK are not tested for genes related to dRTA, indicating that the diagnosis of MSK should consider a wider range of genetic factors, particularly those linked to primary dRTA.
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