Congenital hepatic fibrosis and polycystic disease of kidneys with the roentgen appearance of medullary sponge kidney.
A family is presented in which four and possibly five members of a sibship of seven are affected with polycystic kidney with congenital hepatic fibrosis. The excretory urogram in this disease may be indistinguishable from that of medullary sponge kidneys. Therefore, it is suggested that family studies be undertaken when a diagnosis of medullary sponge kidney is made.
D000293:Adolescent; D000328:Adult; D001344:Autopsy; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008103:Liver Cirrhosis / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D007691:Medullary Sponge Kidney / Q000000981:diagnostic imaging* / Q000235:genetics; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography