Results 41 to 50 of about 23,951 (234)

Fetal polycystic kidney disease: Pathological overview

Journal of the Scientific Society, 2013
Polycystic kidney disease is a rare developmental anomaly inherited as autosomal dominant or autosomal recessive. It is characterized by cystic dilatation of the collecting ducts frequently associated with hepatic involvement and progression to renal ...
Sunita B Patil, Madhura D Paricharak, Deepak G Paricharak, S S More   +3 more
doaj   +1 more source

Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1) gene. [PDF]

PLoS ONE, 2014
Congenital hepatic fibrosis has been described as a lethal disease with monogenic autosomal recessive inheritance in the Swiss Franches-Montagnes horse breed.
Michaela Drögemüller, Vidhya Jagannathan, Monika M Welle, Claudia Graubner, Reto Straub, Vinzenz Gerber, Dominik Burger, Heidi Signer-Hasler, Pierre-André Poncet, Stéphane Klopfenstein, Ruedi von Niederhäusern, Jens Tetens, Georg Thaller, Stefan Rieder, Cord Drögemüller, Tosso Leeb   +15 more
doaj   +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

Management of delivery of a fetus with autosomal recessive polycystic kidney disease: a case report of abdominal dystocia and review of the literature

Journal of Medical Case Reports, 2019
Background Autosomal recessive renal polycystic kidney disease occurs in 1 in 20,000 live births. It is caused by mutations in both alleles of the PKHD1 gene.
Sarah Belin, Cristina Delco, Paloma Parvex, Sylviane Hanquinet, Siv Fokstuen, Begoña Martinez de Tejada, Isabelle Eperon   +6 more
doaj   +1 more source

Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review

BMC Pregnancy and Childbirth, 2021
Background Both Caroli disease (CD) and autosomal recessive polycystic kidney disease (ARPKD) are autosomal recessive disorders, which are more commonly found in infants and children, for whom surviving to adulthood is rare.
Xiuzhen Yao, W. Ao, Jianhua Fang, Guoqun Mao, Chuanghua Chen, Lifang Yu, Huaijie Cai, Chenke Xu   +7 more
semanticscholar   +1 more source

A clinician's guide to the diagnosis and management of kidney cysts. [PDF]

Intern Med J
Abstract Kidney cysts are frequently encountered as incidental findings on imaging studies and are typically benign in nature. However, certain cysts exhibit characteristics that may predispose them to malignant transformation. The Bosniak classification, based on contrast‐enhanced computed tomography or magnetic resonance imaging, offers a systematic ...
Brotherton K, Chacko B.
europepmc   +2 more sources

Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes

Clinical and Experimental Nephrology, 2021
Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene. The clinical spectrum is often more variable than previously considered.
Shinya Ishiko, N. Morisada, Atsushi Kondo, Sadayuki Nagai, Y. Aoto, Eri Okada, Rini Rossanti, Nana Sakakibara, C. Nagano, T. Horinouchi, Tomohiko Yamamura, T. Ninchoji, H. Kaito, R. Hamada, Yuko Shima, K. Nakanishi, M. Matsuo, K. Iijima, K. Nozu   +18 more
semanticscholar   +1 more source

Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report [PDF]

, 2016
Townes‑Brocks syndrome (TBS) is a rare autosomal dominant congenital anomaly syndrome characterized by the triad of anorectal, hand and external ear malformations. Kidney involvement is less common and may progress to end‑stage renal failure (ESRF) early
Bian, F, Gale, D, Jiang, GR, Lin, FJ, Lu, W, Yao, Y, Zou, R   +6 more
core   +1 more source

Risk Factors for Neurocognitive Functioning in Children with Autosomal Recessive Polycystic Kidney Disease

Frontiers in Pediatrics, 2017
This mini review provides an overview of the issues and challenges inherent in autosomal recessive polycystic kidney disease (ARPKD), with a particular focus on the neurological factors and neurocognitive functioning of this population.
Stephen R. Hooper
doaj   +1 more source

Systematic review on outcomes used in clinical research on autosomal recessive polycystic kidney disease—are patient-centered outcomes our blind spot?

Pediatric nephrology (Berlin, West), 2021
Autosomal recessive polycystic kidney disease (ARPKD) is a rare severe hepatorenal disease. Survivors of pulmonary hypoplasia and patients with milder presentations often achieve long-term survival but frequently require kidney and/or liver ...
C. Gimpel, M. Liebau, F. Schaefer
semanticscholar   +1 more source