Results 41 to 50 of about 42,420 (251)

Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis. [PDF]

Mol Genet Metab, 2020
Abdul Majeed N, Font-Montgomery E, Lukose L, Bryant J, Veppumthara P, Choyke PL, Turkbey IB, Heller T, Gahl WA, Gunay-Aygun M.   +9 more
europepmc   +3 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, N. Banks, Roxanne Fischer, Marjan Huizing, Joy Bryant, William A. Gahl   +5 more
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, Dominique Chauveau, Jean-Pierre Grünfeld, Marie-France Gagnadoux, Yves Pirson   +4 more
openaire   +3 more sources

A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease

Frontiers in Genetics, 2023
Objective: Variants of the polycystic kidney and hepatic disease 1 (PKHD1) gene are associated with autosomal recessive polycystic kidney disease (ARPKD).
Mingzhu Miao, Li-qun Feng, Jue Wang, Cheng Xu, Xiaotian Su, Guoying Zhang, Shoulian Lu   +6 more
semanticscholar   +1 more source

A systems-biology approach to understanding the ciliopathy disorders. [PDF]

, 2011
'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
core   +1 more source

The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD)

Annals of Human Genetics, 2023
Autosomal recessive polycystic kidney disease is an early onset inherited hepatorenal disorder affecting around 1 in 20,000 births with no approved specific therapies. The disease is almost always caused by variations in the polycystic kidney and hepatic
Travis A K Bannell, Joseph J B Cockburn
semanticscholar   +1 more source

Cystic kidney diseases: many ways to form a cyst [PDF]

, 2012
Renal cysts are a common radiological finding in both adults and children. They occur in a variety of conditions, and the clinical presentation, management, and prognosis varies widely.
Loftus, H., Ong, A.C.M.
core   +1 more source

Pkd2 dosage influences cellular repair responses following ischemia-reperfusion injury [PDF]

, 2009
Autosomal dominant polycystic kidney disease (ADPKD) results from mutations in either PKD1 or PKD2 and accounts for 10% of all patients on renal replacement therapy. The kidney disease phenotype is primarily characterized by cyst formation, but there are
Haylor, J.L., McDaid, J.P., Ong, A.C.M., Prasad, S., Tam, F.W.K.   +4 more
core   +2 more sources

Kidney Disease Progression in Autosomal Recessive Polycystic Kidney Disease [PDF]

The 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 ...
Katherine M. Dell, Matthew Matheson, Erum A. Hartung, Bradley A. Warady, Susan L. Furth, Alvaro Muñoz, Allison Dart, Larry Greenbaum, Jens Goebel, Mark Mitsnefes, Joseph Flynn, Craig Wong, Sahar Fathallah, Isidro Salusky, Ora Yadin, Bruce Morgenstern, Tom Blydt-Hansen, Keefe Davis, Cynthia Pan, Amira Al-Uzri, Randall Jenkins, Anthony Portale, Mouin Seikaly, Martin Turman, Cynthia Wong, Steven Alexander, Colleen Hastings, Randall Jenkins, Nancy Rodig, William Harmon, Sharon Bartosh, Nadine Benador, Robert Mak, Ellen Wood, Randall Jenkins, Gary Lerner, Susan Massengill, Guillermo Hidalgo, Meredith Atkinson, Debbie Gipson, Poyyapakkam Srivaths, Joshua Samuels, Frederick Kaskel, Debora Mattosian, Yi Cai, Sharon Andreoli, Jeffrey Saland, Hiren Patel, Victoria Norwood, Rulan Parekh, Lisa Robinson, Susan Mendley, Marc Lande, George Schwartz, Patrick Brophy, Eunice John, Kiran Upadhyay, Maria Ferris, Tej Matoo, Juan Kupferman, Lynne Weiss, Craig Langman, Patricia Seo-Mayer, Kanwal Kher, Dmitry Samsonov   +64 more
openaire   +3 more sources

Portal hypertension syndrome in children with autosomal recessive polycystic kidney disease with liver cysts and hepatic fibrosis

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2023
Hepatic fibrosis, liver cysts, and portal hypertension are extrarenal manifestations that determine the prognosis of autosomal recessive polycystic kidney disease in children.Purpose. To assess the features of the manifestation and course of liver cystic
E. Andreeva, I. V. Dyug, L. G. Goryacheva, N. Savenkova   +3 more
semanticscholar   +1 more source