Congenital hepatic fibrosis and adult-type autosomal dominant polycystic kidney disease in a child.
نویسندگان
چکیده
منابع مشابه
Congenital hepatic fibrosis and adult-type autosomal dominant polycystic kidney disease in a child.
This reports a family with congenital hepatic fibrosis and adult polycystic kidney disease. Adult polycystic kidney disease was present in three generations. In addition, congenital hepatic fibrosis occurred in two members of the third generation. These conditions are generally held to have different modes of inheritance and the significance of their occurrence together is not clear.
متن کاملCongenital hepatic fibrosis in a child with autosomal dominant polycystic kidney disease.
The association of congenital hepatic fibrosis (CHF) with autosomal recessive polycystic kidney disease (ARPKD) is well known and occurs in approximately 50% of cases. However the association of CHF with autosomal dominant polycystic kidney disease (ADPKD) is less well known and less well documented. We report a child with neonatal onset of hypertension due to ADPKD who later develops portal hy...
متن کاملHepatic cysts in autosomal dominant polycystic kidney disease.
Hepatic cysts are one of several extrarenal manifestations of the ADPKD gene. Several factors, including age, gender, pregnancy, the degree of renal cystic disease, and the extent of renal functional impairment, may modify the expression of hepatic cystic disease. With advances in medical care, such as improvement in the management of end-stage renal disease, hemodialysis, and renal transplanta...
متن کاملAutosomal dominant polycystic kidney disease.
The lack of reliable data on frequency, age of onset, survival, spontaneous mutation rate and prognosis in autosomal dominant polycystic kidney disease is a continual source of frustration to physicians involved in counselling patients and their relatives. The only major study to address all of these issues in a defined population was presented by Dalgaard as a 251-page doctoral thesis in 1957 ...
متن کاملAutosomal Dominant Polycystic Kidney Disease
recessive forms (1–3), autosomal dominant polycystic kidney disease (ADPKD) with an incidence of 1 : 500 to 1 : 1000 is one of the commonest hereditary diseases (4). Some 5 million people worldwide are affected. In many countries ADPKD is the fourth most frequent cause of end-stage renal failure. About 85% of these diseases are caused by mutations in the PKD1 gene, the remaining 15% are due to ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Postgraduate Medical Journal
سال: 1985
ISSN: 0032-5473
DOI: 10.1136/pgmj.61.717.641