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Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach.
van den Berg, Gerrit; Claus, Laura R; van der Zwaag, Bert; Lakeman, Phillis; Kaasenbrood, Lotte; Sayer, John A; Lilien, Marc R; van Eerde, Albertien M.
Afiliación
  • van den Berg G; Department of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Claus LR; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Lakeman P; Department of Human Genetics, Amsterdam University Medical Center, Amsterdam, The Netherlands.
  • Kaasenbrood L; Department of Nephrology, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Sayer JA; Newcastle University, Translational and Clinical Research Institute, Newcastle Upon Tyne, UK.
  • Lilien MR; The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK.
  • van Eerde AM; Biomedical Research Centre, Newcastle, UK.
Nephron ; 148(8): 569-577, 2024.
Article en En | MEDLINE | ID: mdl-38447554
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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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Acidosis Tubular Renal / Riñón Esponjoso Medular Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Nephron Año: 2024 Tipo del documento: Article País de afiliación: Países Bajos

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Acidosis Tubular Renal / Riñón Esponjoso Medular Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Nephron Año: 2024 Tipo del documento: Article País de afiliación: Países Bajos