Autosomal-recessive polycystic kidney disease.
نویسنده
چکیده
منابع مشابه
Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease
Background Autosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease. Case Report In the current study, we present a consanguineous couple with a history of an affected son with polycystic kidney disease (PKD), hepatic failure and epileptic seizures who died at the age of 8 months. Both parents were h...
متن کاملIdentification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease
Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...
متن کاملCongenital Hepatic Fibrosis: An Uncommon Cause of Chronic Renal Failure
Congenital Hepatic Fibrosis (CHF) is a rare disease that affects both the liver and kidneys. Congenital hepatic fibrosis (CHF) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. Affected individuals also have impaired renal function, usually caused, in children and teenagers, by an...
متن کاملAutosomal Recessive Polycystic Kidney Disease : A Rare Clinical Entity
Recessive (infantile) polycystic kidney disease is a rare inherited disorder with cystic dilations of the renal collecting ducts frequently associated with hepatic involvement. The gene responsible for this disease, PKHD1, located on the short arm of chromosome 6, has recently been identified. Autosomal recessive polycystic kidney disease is a rare entity with an incidence of 1:10,000 to 1:40,0...
متن کاملAutopsy Report with Clinical and Pathophysiologic Discussion of Autosomal Dominant Adult Polycystic Kidney Disease
The average weight of a kidney is approximately 135 gm, measuring on average 10 × 6 × 4 cm. In hereditary conditions, autosomal dominant and autosomal recessive polycystic kidney disease, the shape, size, and the weight can be significantly abnormal, causing progressive renal failure, often necessitating dialysis or renal transplant for survival. We report a case of adult polycystic kidney dise...
متن کاملCaroli's Syndrome with Autosomal Recessive Polycystic Kidney Disease in a Two Month Old Infant
Caroli's syndrome is a rare congenital disorder that involves intrahepatic bile duct ectasia and congenital hepatic fibrosis, frequently seen with concomitant autosomal recessive polycystic kidney disease (ARPKD). Literature on infants with ARPKD is rare. Here, we present a case of a two month old boy who was diagnosed with Caroli's syndrome and ARPKD.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Kidney international
دوره 67 4 شماره
صفحات -
تاریخ انتشار 2005