Results 131 to 140 of about 149,259 (318)

A Rare Diagnosis of Caroli Syndrome in a Young Patient

Clinical Case Reports, Volume 13, Issue 6, June 2025.
ABSTRACT Caroli syndrome is a rare but serious congenital disorder associated with portal hypertension and polycystic kidney disease. Early diagnosis via imaging, particularly MRCP, is crucial to prevent life‐threatening complications such as cholangitis and biliary cirrhosis.
Elaheh Karimzadeh‐Soureshjani, Farab Pourhasan, Pouria Ahmadi Simab, Sajjad Shojaei, Yasaman Mohammadian   +4 more
wiley   +1 more source

Autosomal dominant polycystic kidney disease: updated perspectives

Therapeutics and Clinical Risk Management, 2019
Anjay Rastogi,1 Khalid Mohammed Ameen,1 Maha Al-Baghdadi,1 Kelly Shaffer,1 Niloofar Nobakht,1 Mohammad Kamgar,1 Edgar V Lerma21Department of Medicine, Division of Nephrology, David Geffen School of Medicine, Los Angeles, CA, USA; 2Department of Medicine,
Rastogi A, Ameen KM, Al-Baghdadi M, Shaffer K, Nobakht N, Kamgar M, Lerma EV   +6 more
doaj  

TRPP2 and autosomal dominant polycystic kidney disease

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2007
Mutations in TRPP2 (polycystin-2) cause autosomal dominant polycystic kidney disease (ADPKD), a common genetic disorder characterized by progressive development of fluid-filled cysts in the kidney and other organs. TRPP2 is a Ca(2+)-permeable nonselective cation channel that displays an amazing functional versatility at the cellular level.
openaire   +3 more sources

Mortality in Tuberous Sclerosis Complex in the United Kingdom, 2016–2022

Journal of Intellectual Disability Research, Volume 69, Issue 6, Page 457-464, June 2025.
ABSTRACT Background Tuberous sclerosis complex (TSC) is a genetic condition caused by mutations in either TSC1 or TSC2 genes, affecting around two million people globally. This study aims to examine causes of death in TSC and explore factors contributing to mortality in people with TSC in the United Kingdom in recent years following updated management ...
Callum Richard Thomas Kidson, Ne‐Ron Loh, Yasir Ahmed Syed   +2 more
wiley   +1 more source

Renin-Angiotensin-Aldosterone System Antagonism and Polycystic Kidney Disease Progression. [PDF]

, 2016
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a systemic disease characterised by the formation of multiple renal cysts that adversely affect renal function.
Hian, Chuan Kai, Lee, Chin Liang, Thomas, Warren   +2 more
core   +2 more sources

The Longitudinal Study of Liver Cysts in Patients With Autosomal Dominant Polycystic Kidney Disease and Polycystic Liver Disease

Kidney International Reports, 2017
Although polycystic liver disease (PCLD) is one of the extrarenal complications in patients with autosomal dominant polycystic kidney disease (ADPKD), longitudinal changes and the association with total liver volume (TLV) have not been clearly elucidated
Ryo Matsuura, Kenjiro Honda, Yoshifumi Hamasaki, Kent Doi, Eisei Noiri, Masaomi Nangaku   +5 more
doaj   +1 more source

Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease

Molecular Genetics & Genomic Medicine, 2020
Background Polycystic kidney disease (PKD) is an inherited disease that is life‐threatening. Multiple cysts are present in the bilateral kidneys of PKD patients.
Kexian Dong, Xiaogang Liu, Xueyuan Jia, Huanhuan Miao, Wei Ji, Jie Wu, Yun Huang, Lidan Xu, Xuelong Zhang, Hui Su, Guohua Ji, Peng Liu, Rongwei Guan, Jing Bai, Songbin Fu, Xianli Zhou, Wenjing Sun   +16 more
doaj   +1 more source

Prevalence of autosomal dominant polycystic kidney disease in the European Union

Nephrology, Dialysis and Transplantation, 2016
Background Autosomal dominant polycystic kidney disease (ADPKD) is a leading cause of end-stage renal disease, but estimates of its prevalence vary by >10-fold.
C. Willey, J. Blais, A. Hall, H. Krasa, A. J. Makin, F. Czerwiec   +5 more
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

Autophagy and Autosomal Dominant Polycystic Kidney Disease

Turkish Journal of Nephrology, 2023
Özgür Akın Oto, Charles L. Edelstein
doaj   +1 more source