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Autosomal recessive polycystic kidney disease. [PDF]
Nephrology Dialysis Transplantation, 1996 Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disorder which usually becomes clinically manifest in early childhood. With increasing knowledge and improving diagnostic techniques it has become evident that the spectrum of ARPKD is much more variable than was previously thought.
Gabi Mücher +2 more
exaly +4 more sources
A proposed classification for standardized reporting of liver disease in children with autosomal recessive polycystic kidney disease. [PDF]
JPGN RepJPGN Reports, Volume 7, Issue 3, Page 477-478, August 2026.
Kurkal K, Gupte GL.
europepmc +2 more sources
Kidney Disease Progression in Autosomal Recessive Polycystic Kidney Disease [PDF]
Journal of Pediatrics, 2016 To define glomerular filtration rate (GFR) decline, hypertension (HTN), and proteinuria in subjects with autosomal recessive polycystic kidney disease (ARPKD) and compare with 2 congenital kidney disease control groups in the Chronic Kidney Disease in Children cohort.GFR decline (iohexol clearance), rates of HTN (ambulatory/casual blood pressures ...
Erum Hartung +2 more
exaly +3 more sources
Autosomal-recessive polycystic kidney disease [PDF]
Kidney International, 2005 Keywords: end-stage renal disease, congenital hepatic fibrosis, Bardet-Biedel syndrome ...
+7 more sources
Pregnancy in autosomal recessive polycystic kidney disease [PDF]
Archives of Gynecology and Obstetrics, 2014 Autosomal recessive polycystic kidney disease (ARPKD) is the most common childhood-onset ciliopathy. As treatments improve, more women are reaching reproductive age, but little is known about ARPKD and pregnancy.In our ongoing study on ARPKD and other ciliopathies, 12 females over 18 years of age were identified and systematically evaluated.
Nicole, Banks +5 more
openaire +2 more sources
Autosomal recessive polycystic kidney disease in adulthood [PDF]
Nephrology Dialysis Transplantation, 2001 Renal cysts arising from collecting ducts, congenital hepatic fibrosis, and recessive inheritance characterize autosomal recessive polycystic kidney disease (ARPKD). The disorder usually manifests in infancy, with a high mortality rate in the first year of life.
C, Fonck +4 more
openaire +2 more sources
Autosomal Recessive Polycystic Kidney Disease
Journal of Neonatal Surgery, 2014 Please see ...
Linda Bloom, Kassa Darge
openaire +4 more sources
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
+4 more sources
Autosomal recessive polycystic kidney disease
Slovenska pediatrija, revija pediatrov Slovenije in specialistov šolske ter visokošolske medicine Slovenije, 2022 Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy caused by mutations in the PKHD1 gene, which encodes the membrane protein fibrocystin/polyductin. Mutations lead to primary cilia dysfunction, which predominantly affects the kidneys and hepatobiliary system.
Anja Fon Gabršček, Rina Rus
openaire +3 more sources