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Autosomic Dominant Tubulo Interstitial Kidney Disease: Case Report of a New Variant of the UMOD Gene.

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia - 26 Oct 2023

Cárdenas Aguilera Juan Guillermo, Figueredo Rodriguez Lizeth Daniela, Chacón Acevedo Kelly Rocio, Zarante Bahamón Ana María, Prieto Juan Carlos

Abstract excerpt

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a low-prevalence pathology mainly associated with pathogenic variants of the UMOD gene. It is characterized by the progressive deterioration of renal function, associated with hyperuricemia and accompanied by a family history of gout or hyperuricemia. Often, clinical variability and a lack of molecular testing results in diagnostic failure to...

Topics

Male
Humans
Adolescent
Hyperuricemia
Uromodulin
Gout
Genetic Testing
Polycystic Kidney Diseases
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38010247

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