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Educational Case: Autosomal Recessive Polycystic Kidney Disease [PDF]
Academic Pathology, 2017 The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology.
Ashley S. Hafer MPA +1 more
doaj +2 more sources
Caroli′s syndrome with autosomal recessive polycystic kidney disease
Saudi Journal of Kidney Diseases and Transplantation, 2014 Caroli′s syndrome (CS) is a rare congenital disorder characterized by multiple segmental cystic or saccular dilatations of the intrahepatic bile ducts and congenital hepatic fibrosis.
Prithi Shenoy +3 more
doaj +4 more sources
Autosomal recessive polycystic kidney disease diagnosed in fetus
Indian Journal of Urology, 2007 The presence of isolated large and hyperechoic fetal kidneys suggest polycystic kidney disease. The antenatal diagnosis has to be made without doubt as it has serious implications in the continuation of pregnancy, evaluation of family members and genetic counseling for the family. We present the features of autosomal recessive polycystic kidney disease
Joseph Thomas +3 more
doaj +4 more sources
Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease [PDF]
Brazilian Journal of Medical and Biological Research, 2006 Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disease characterized by a malformation complex which includes cystically dilated tubules in the kidneys and ductal plate malformation in the liver.
L.F. Menezes, L.F. Onuchic
doaj +6 more sources
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.
Klaus Zerres +3 more
openaire +5 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.
Meral Gunay-Aygun +5 more
openaire +3 more sources
Autosomal-recessive polycystic kidney disease [PDF]
Kidney International, 2005 Keywords: end-stage renal disease, congenital hepatic fibrosis, Bardet-Biedel syndrome ...
openaire +3 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.
Catherine Fonck +4 more
openaire +3 more sources
Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease [PDF]
Pediatric Nephrology, 2012 Autosomal recessive polycystic kidney disease (ARPKD) shows a great phenotypic variability between patients, ranging from perinatal demise to mildly affected adults. Autosomal dominant polycystic liver disease (PCLD) does not manifest in childhood.A boy was reported with the co-occurrence of ARPKD and PCLD.
Zingg-Schenk, Andrea +5 more
openaire +3 more sources
A human multi-lineage hepatic organoid model for liver fibrosis
Nature Communications, 2021 Autosomal recessive polycystic kidney disease (ARPKD) is a genetic disorder which is associated with kidney and liver pathology, including liver fibrosis.
Yuan Guan +15 more
doaj +1 more source