Renal disorders in the branchio-oto-renal syndrome.
Intravenous urography and measurements of renal function were performed in 16 patients suffering from branchio-oto-renal syndrome. Malformations were visible by intravenous urography in all patients. Four out of 16 patients had a diminished glomerular filtration rate. Renal histology available in two patients revealed oligomeganephronic renal hypoplasia and multicystic dysplasia, respectively. Without renal agenesis or severe renal hypoplasia or dysplasia present in early infancy, renal abnormality does not seem to be a progressive disorder.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001935:Branchioma / Q000150:complications / Q000235:genetics; D003404:Creatinine / Q000097:blood; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D005919:Glomerular Filtration Rate; D006311:Hearing Disorders / Q000150:complications / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D011859:Radiography
D003404:Creatinine