LILACS – Literatura Latinoamericana y del Caribe de Ciencias de la Salud

Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil

Guerra, J. M; Cardoso, N. C; Daniel, A. G. T; Onuchic, L. F; Cogliati, B.

Braz. j. biol; 81 (2), 2021

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disease in cats. However, scarce data on its prevalence are available in Brazil. Persian cats and Persian-related breeds were assessed by molecular genotyping for a C to A transversion in exon 29 of PKD1 gene to determine ADP...

Brasil/epidemiología, Mutación, Riñón Poliquístico Autosómico Dominante/epidemiología, Riñón Poliquístico Autosómico Dominante/genética, Riñón Poliquístico Autosómico Dominante/veterinaria, Reacción en Cadena de la Polimerasa/veterinaria, Polimorfismo de Longitud del Fragmento de Restricción, Prevalencia, Técnicas de Genotipaje/veterinaria

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Identification of a novel UMOD mutation (c. 163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease

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 confi...