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

Chronic brucellosis with hepatic brucelloma and AA amyloidosis in a patient with autosomal dominant polycystic kidney disease

We describe an autopsy case of a 45-year-old male diagnosed with autosomal dominant polycystic kidney disease who presented with complaints of altered sensorium. The autopsy revealed multiple tumor-like masses in the liver, which on histological examination depicted multiple large suppurative granulomas ...

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

Lopes, LB; Abreu, CC; Souza, CF; Guimaraes, LER; Silva, AA; Aguiar-Alves, F; Kidd, KO; Kmoch, S; Bleyer, AJ; Almeida, JR.

Braz. j. med. biol. res; 51 (3), 2018

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...

Biopsia, Genotipo, Mutación/genética, Linaje, Riñón Poliquístico Autosómico Dominante/genética, Riñón Poliquístico Autosómico Dominante/patología, Uromodulina/genética

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