A novel and two recurrent UMOD mutations in autosomal dominant tubulointerstitial kidney disease (ADTKD): a case series and literature review.

Abstract excerpt

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare hereditary disorder characterized by slowly progressive loss of kidney function with absent or mild proteinuria and tubulointerstitial fibrosis. Mutations in the UMOD gene represent one of the primary genetic etiologies of ADTKD. This study presented the clinical data and genetic variant interpretation of three ADTKD patients diagnosed via a...

Topics

• Adult
• Humans
• Male
• Middle Aged
• DNA Mutational Analysis
• High-Throughput Nucleotide Sequencing
• Mutation
• Nephritis, Interstitial
• Pedigree
• Uromodulin