[A case of familial bilateral polycystic kidney].
The paper describes a case of bilateral polycystic kidney in a 14-year-old whose father and 3 brothers are also affected by bilateral renal cystic dysplasia (as is a paternal aunt), while a paternal uncle is affected by constant hematuria with no ultrasound signs of renal cystic dysplasia. The case in question is an adult type of dominant autosomal polycystic renal dysplasia, affecting all the males in the family and also a female within the family nucleus. The case is described in the light of the most recent reports on the subject and the problem of prevention is also discussed.
Giaretto
G
G
Divisione di Pediatria, U.S.L. III, Ospedale Martini, Torino.
Bonomi
A
A
Gomirato
G
G
Crosato
M
M
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005799:Genes, Dominant; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control
Un caso di rene policistico bilaterale familiare.