Results 211 to 220 of about 42,420 (251)

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 ...
K. Zerres, S. Rudnik-Schöneborn, C. Steinkamm, J. Becker, G. Mücher   +4 more
openaire   +3 more sources

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
openaire   +3 more sources

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.
B. Cole
openaire   +2 more sources

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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Autosomal Recessive Polycystic Kidney Disease

Contributions to Nephrology, 2001
Adalberto Sessa, S.L. Puricelli, Graziana Battini, Marco Righetti, Mietta Meroni, Alessia Maglio   +5 more
openaire   +4 more sources

Autosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management.

Advances in kidney disease and health, 2023
Autosomal recessive polycystic kidney disease (ARPKD) is the rare and usually early-onset form of polycystic kidney disease with a typical clinical presentation of enlarged cystic kidneys and liver involvement with congenital hepatic fibrosis or Caroli ...
K. Burgmaier, I. Broekaert, M. Liebau
semanticscholar   +1 more source

Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature

Nephron, 2023
The clinical features of cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis (COACH) characterize the rare autosomal recessive multisystem disorder called COACH syndrome.
Meenakshi Sambharia, M. Freese, F. Donato, G. Bathla, Ibrahim M.M. Abukhiran, Maisie I. Dantuma, M. Mansilla, C. P. Thomas   +7 more
semanticscholar   +1 more source

Ambulatory blood pressure and hypertension control in children with autosomal recessive polycystic kidney disease: clinical experience from two central European tertiary centres

Journal of Hypertension, 2022
Objective : Arterial hypertension is a common complication in patients with autosomal recessive polycystic kidney disease (ARPKD), occurring in 33–75% of children when measured by office blood pressure (OBP).
T. Seeman, R. Blažík, Fencl Fencl, K. Bláhová, L. Obeidová, J. Štekrová, F. Weigel, Ulrike John-Kroegel   +7 more
semanticscholar   +1 more source

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
openaire   +3 more sources

The Clinical and Mutational Spectrum of 69 Turkish Children with Autosomal Recessive or Autosomal Dominant Polycystic Kidney Disease: A Multicenter Retrospective Cohort Study

Nephron, 2023
Introduction: Autosomal recessive polycystic kidney disease (ARPKD) is associated with pathogenic variants in the PKHD1 gene. Autosomal dominant polycystic kidney disease (ADPKD) is mainly associated with pathogenic variants in PKD1 or PKD2.
Ozum Tutal, B. Gulhan, E. Atayar, Selcuk Yuksel, Z. Ozcakar, O. Soylemezoglu, S. Saygılı, Salim Çalişkan, Mihriban Inozu, E. Baskın, A. Duzova, M. Hayran, R. Topaloğlu, F. Ozaltın   +13 more
semanticscholar   +1 more source