Autosomal dominant polycystic kidney disease associated with familial sensorineural deafness.
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by both renal and non-renal disorders. Extrarenal involvement includes noncystic manifestations such as cardiovascular abnormalities, colonic diverticula and intracranial aneurysms. Familial sensorineural hearing loss (SNHL) has been included in the definition of Alport's syndrome. However, other types of nephropathy have been occasionally associated with hereditary deafness. The association of ADPKD with hereditary SNHL has not been previously documented. We report a family with ADPKD associated with bilateral sensorineural deafness in a pedigree of four affected members in four generations.
Mora
C
C
Department of Nephrology, Hospital Ntra. Sra. de Candelaria, Tenerife, Spain.
Navarro
J F
JF
García
J
J
Gallego
E
E
Macía
M
M
Méndez
M L
ML
Chahin
J
J
Rivero
A
A
D003638:Deafness / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis / Q000235:genetics*