Results 141 to 150 of about 4,765 (160)

Autosomal recessive polycystic kidney disease

Pediatric Nephrology, 1989
The clinical features of 55 cases of autosomal recessive polycystic kidney disease (ARPCKD) have been reviewed. Each had evidence of ARPCKD. The outcomes of 87% were known; 24 had died. Twenty-four of 31 were seen between 1980 and 1986; 7 could not be traced. Forty-five percent presented under 1 month; 38% between 1 month and 1 year; and 9 cases over 1
Vanita Shah, Michael J. Dillon, Bernard S. Kaplan, J. Fay, T M Barratt   +4 more
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Autosomal recessive polycystic kidney disease

Journal of Molecular Medicine, 1998
Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disorder which usually becomes clinically manifest in early childhood, although the spectrum of ARPKD is much more variable than generally known. Presentation of ARPKD at later ages and survival into adulthood have been observed in many cases. The responsible gene has been mapped
Klaus Zerres, Carsten Steinkamm, Gabi Mücher, Jutta Becker, Sabine Rudnik-Schöneborn   +4 more
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Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease

Pediatric Nephrology, 2021
Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are characterized by bilateral cystic kidney disease leading to progressive kidney function decline. These diseases also have distinct liver manifestations.
Erum A. Hartung, Erum A. Hartung, Eric G. Benz, Eric G. Benz   +3 more
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Autosomal recessive polycystic kidney disease

The Clinical Investigator, 1992
Autosomal recessive polycystic kidney disease is a rare inherited disorder which usually becomes clinically manifest in early childhood, whereas autosomal dominant polycystic kidney disease usually is a disorder of adult onset. With increasing knowledge and improving diagnostic techniques, it becomes evident that the spectrum of both entities is much ...
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Autosomal Recessive Polycystic Kidney Disease

2010
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder involving cystic dilatation of the renal collecting ducts as well as varying degrees of hepatic abnormalities consisting of cysts, fibrosis, and portal hypertension. The ARPKD locus has been mapped to chromosome 6p21 and encodes a novel protein product named fibrocystin or ...
Jodi M. Smith, Ruth A. McDonald
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Autosomal Recessive Polycystic Kidney Disease [PDF]

, 1990
Autosomal recessive polycystic kidney disease (ARPKD) is a specific disease of the kidneys and liver, characterized by renal collecting tubule ectasia and invariably accompanied by biliary dysgenesis and portal fibrosis. In the past the disease has been called “infantile” polycystic kidney disease because of the predominant presentation in infancy.
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Molecular genetics of autosomal recessive polycystic kidney disease

Molecular Genetics and Metabolism, 2004
Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of inherited childhood nephropathy ( approximately 1:20,000 live births) characterized by fusiform dilatation of collecting ducts and congenital hepatic fibrosis. Up to 30% die as neonates due to respiratory insufficiency and the majority of surviving infants develop hypertension ...
Sandro Rossetti, Peter C. Harris
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Liver disease in autosomal recessive polycystic kidney disease

Pediatric Transplantation, 2005
Abstract:  Hepatic complications occur in a significant proportion of children with autosomal recessive polycystic kidney disease (ARPKD). PKHD1/fibrocystin, the defective gene in ARPKD, is expressed in the cilia of bile duct epithelium and leads to abnormalities in the rubric of the ductal plate malformation.
Margret S. Magid, Benjamin L. Shneider
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Clinical manifestations of autosomal recessive polycystic kidney disease

Current Opinion in Pediatrics, 2015
To describe the recent increase in the understanding of the clinical manifestation of autosomal recessive polycystic kidney disease (ARPKD), which is caused by mutations in the PKHD1 gene. The change in nomenclature reflects the genetic contribution to the understanding of pleiotropic disease manifestations.
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[Autosomal recessive polycystic kidney].

Vutreshni bolesti, 1990
A case of a 22 years old woman with autosomal-recessive form of kidney polycystosis is presented. The diagnosis was made in early childhood. A combination of renal anomaly and hepatic fibrosis with manifestations of portal hypertension was present. No deviations from the other internal organs were found.
V, Todorov, S, Penkova, I, Lalev
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