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[Autosomal recessive polycystic kidney disease].

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, 2003
G, Ariceta, X M, Lens
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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
B S, Kaplan, J, Fay, V, Shah, M J, Dillon, 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
K, Zerres, S, Rudnik-Schöneborn, C, Steinkamm, J, Becker, G, Mücher   +4 more
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Autosomal recessive polycystic kidney disease (ARPKD)

Journal of Nephrology, 2003
Abstract Autosomal recessive polycystic kidney disease (ARPKD) is an important hereditary early childhood nephropathy. However, the clinical ARPKD spectrum is much more variable than is generally presumed. Presentation of ARPKD at a later age and survival into adulthood is well known. Diagnostic criteria, clinical course, differential
Klaus, Zerres, Sabine, Rudnik-Schöneborn, Jan, Senderek, Thomas, Eggermann, Carsten, Bergmann   +4 more
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Autosomal recessive polycystic kidney disease

2023
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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.
Benjamin L, Shneider, Margret S, Magid
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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

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.
Bernard S. Kaplan, Paige Kaplan
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Autosomal recessive polycystic kidney disease

2015
Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality with variable disease expression. Many patients manifest peri- or neonatally with a mortality rate of 30–50%, whereas others survive to adulthood with only minor clinical features.
Carsten Bergmann, Klaus Zerres
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