Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonly caused by mutations in the UMOD gene encoding uromodulin (ADTKD-UMOD). We herein report the first confirmed case of a multi-generational Brazilian family with ADTKD-UMOD, caused by a novel heterozygous mutation (c.163G>A, GGC→AGC, p.Gly55Ser) in the UMOD gene. Of 41 family members, 22 underwent genetic analysis, with 11 individuals found to have this mutation. Three affected individuals underwent hemodialysis, one peritoneal dialysis, and one patient received a kidney transplant from a family member later found to be genetically affected. Several younger individuals affected with the mutation were also identified. Clinical characteristics included a bland urinary sediment in all tested individuals and a kidney biopsy in one individual showing tubulointerstitial fibrosis. Unlike most other reported families with ADTKD-UMOD, neither gout nor hyperuricemia was found in affected individuals. In summary, we report a novel UMOD mutation in a Brazilian family with 11 affected members, and we discuss the importance of performing genetic testing in families with inherited kidney disease of unknown cause.

Departamento de Ciências Básicas Polo Universitário de Nova Friburgo Universidade Federal Fluminense Nova Friburgo RJ Brasil

Institute for Inherited Metabolic Disorders and 1st Faculty of Medicine Charles University Prague Prague Czech Republic

Laboratório Multiusuário de Apoio è Pesquisa em Nefrologia e Ciências Médicas Departamento de Medicina Clínica Faculdade de Medicina Universidade Federal Fluminense Niterói RJ Brasil

Laboratório Multiusuário de Apoio è Pesquisa em Nefrologia e Ciências Médicas Departamento de Patologia Faculdade de Medicina Universidade Federal Fluminense Niterói RJ Brasil

Programa de Pós Graduação em Patologia Faculdade de Medicina e Laboratório Rodolpho Albino Universidade Federal Fluminense Niterói RJ Brasil

Section on Nephrology Wake Forest School of Medicine Winston Salem NC USA

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