Results 101 to 110 of about 23,951 (234)

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, D, Chauveau, M F, Gagnadoux, Y, Pirson, J P, Grünfeld   +4 more
openaire   +2 more sources

Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Scientific Reports, 2019
Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric hepatorenal disorder with pronounced phenotypic variability. A substantial number of patients with early diagnosis reaches adulthood and some patients are not diagnosed until ...
K. Burgmaier, S. Kilian, B. Bammens, T. Benzing, H. Billing, A. Büscher, M. Galiano, F. Grundmann, G. Klaus, D. Mekahli, L. Michel‐Calemard, Gordana Miloševski-Lomić, B. Ranchin, K. Sauerstein, S. Schaefer, R. Shroff, R. Sterenborg, Sarah Verbeeck, L. Weber, Dorota Wicher, E. Wühl, J. Dötsch, F. Schaefer, M. Liebau   +23 more
semanticscholar   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Loss of Cilia Does Not Slow Liver Disease Progression in Mouse Models of Autosomal Recessive Polycystic Kidney Disease.

Kidney360, 2020
Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disorder characterized by abnormal cellular proliferation, cyst fluid accumulation, extracellular matrix remodeling, and fibrosis in the kidney and liver.
A. Gallagher, S. Somlo
semanticscholar   +1 more source

Autosomal Recessive Polycystic Kidney Disease—The Clinical Aspects and Diagnostic Challenges

Journal of Pediatric Genetics, 2020
Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common ciliopathies with kidney (nephromegaly, hypertension, renal dysfunction) and liver involvement (congenital hepatic fibrosis, dilated bile ducts).
Dorota Wicher, Łukasz Obrycki, I. Jankowska   +2 more
semanticscholar   +1 more source

Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment

International Journal of Nephrology and Renovascular Disease, 2010
Christian R Halvorson1, Matthew S Bremmer1, Stephen C Jacobs11Department of Surgery, University of Maryland School of Medicine, Baltimore, MD, USAAbstract: Both autosomal dominant and recessive polycystic kidney disease are conditions with severe ...
Christian R Halvorson, Matthew S Bremmer, Stephen C Jacobs   +2 more
doaj  

Inhibition of cyst growth in PCK and Wpk rat models of polycystic kidney disease with low doses of peroxisome proliferator-activated receptor γ agonists [PDF]

, 2016
Background and Objectives The studies were designed to test the efficacy of two peroxisome proliferator-activated receptor γ (PPARγ) agonists in two rodent models of polycystic kidney disease (PKD).
Blazer-Yost, Bonnie L., Flaig, Stephanie M., Gattone, Vincent H.   +2 more
core   +1 more source

A Chinese family of autosomal recessive polycystic kidney disease identified by whole exome sequencing

Medicine, 2020
Background: Autosomal recessive polycystic kidney disease (ARPKD) is an autosomal recessive hepatorenal fibrocystic syndrome. The majority of ARPKD patients progress to end-stage renal disease. Precise molecular diagnosis of ARPKD has proven valuable for
Jun Zhang, Limeng Dai, Furong Li, Bo Zhang, Jinghong Zhao, Jin-bo Cheng   +5 more
semanticscholar   +1 more source

Society for Endocrinology Clinical Practice Guideline for the Evaluation of Androgen Excess in Women

Clinical Endocrinology, Volume 103, Issue 4, Page 540-566, October 2025.
ABSTRACT Context Androgen excess is common in women and refers to clinical or biochemical evidence of elevated androgenic steroids such as testosterone. It is associated with underlying polycystic ovary syndrome in the majority of cases. However severe androgen excess is less common and may indicate the presence of underlying adrenal or ovarian ...
Yasir S. Elhassan, James M. Hawley, Leanne Cussen, Ali Abbara, Sophie A. Clarke, Punith Kempegowda, Rima K. Dhillon‐Smith, Puja Thadani, Maureen Busby, Lucy Owusu‐Darkwah, Rachel Marrington, W. Colin Duncan, Robert K. Semple, Richard Quinton, Michael W. O'Reilly   +14 more
wiley   +1 more source

Cystic Kidney Diseases From the Adult Nephrologist’s Point of View

Frontiers in Pediatrics, 2018
Cystic kidney diseases affect patients of all age groups with the onset spanning from prenatal disease to late adulthood. Autosomal-dominant polycystic kidney disease (ADPKD) is by far the most common renal cystic disease.
Roman-Ulrich Müller, Thomas Benzing
doaj   +1 more source