Results 1 to 10 of about 46,029 (270)

Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease [PDF]

Journal of the American Medical Association (JAMA), 2022
Importance Most studies of autosomal dominant polycystic kidney disease (ADPKD) genetics have used kidney specialty cohorts, focusing on PKD1 and PKD2.
Alex R. Chang, Bryn S. Moore, Jonathan Z. Luo, Gino Sartori, Brian Fang, Steven Jacobs, Yoosif Abdalla, Mohammed Taher, David J. Carey, William Triffo, Gurmukteshwar Singh, Tooraj Mirshahi   +11 more
openalex   +2 more sources

Autosomal dominant polycystic kidney disease with diffuse proliferative glomerulonephritis - an unusual association: a case report and review of the literature [PDF]

Journal of Medical Case Reports, 2010
Introduction Autosomal dominant polycystic kidney disease is an inherited disorder that is characterized by the development and growth of cysts in the kidneys and other organs.
Kapoor Vinay, Minz Ranjana, Kaur Ravinder, Mohan Harsh, Singh Rajdeep, D'Cruz Sanjay, Sachdev Atul   +6 more
doaj   +4 more sources

Echocardiographic characteristics of autosomal dominant polycystic kidney disease [PDF]

Scientific Reports
Cardiovascular complications in patients with autosomal dominant polycystic kidney disease (ADPKD) are frequently investigated extrarenal manifestations with contradictory outcomes.
Agata Koska-Ścigała, Hanna Jankowska, Magdalena Jankowska, Maria Dudziak, Marcin Hellmann, Alicja Dębska-Ślizień   +5 more
doaj   +2 more sources

Surgical Management of Autosomal Dominant Polycystic Kidney Disease: Principles and Current Practice

Journal of Nepal Medical Association, 2023
Autosomal dominant polycystic kidney disease is the third most common cause of renal failure with no definitive treatment available that can directly target the development and growth of the cysts.
Badri Man Shrestha
doaj   +1 more source

Polycystic Liver Disease: A Case Report

The Indonesian Journal of Gastroenterology, Hepatology and Digestive Endoscopy, 2021
Polycystic liver disease is characterized by multiple cystic lesions on the liver. Liver cysts are typically incidental findings, with occasional complications including cyst hemorrhage, infection and rupture.
Randy Adiwinata, Natalin Allorerung, Jonathan Arifputra, Andrea Livina, Pearla Lasut, Bradley Jimmy Waleleng, Fandy Gosal, Luciana Rotty, Jeanne Winarta, Andrew Waleleng, Michael Tendean   +10 more
doaj   +1 more source

Molecular Mechanisms of Isolated Polycystic Liver Diseases

Frontiers in Genetics, 2022
Polycystic liver disease (PLD) is a rare autosomal dominant disorder including two genetically and clinically distinct forms: autosomal dominant polycystic kidney disease (ADPKD) and isolated polycystic liver disease (PCLD).
Ziqi Yu, Xiang Shen, Chong Hu, Jun Zeng, Aiyao Wang, Jianyong Chen   +5 more
doaj   +1 more source

Advances in Autosomal Dominant Polycystic Kidney Disease: A Clinical Review

Kidney Medicine, 2020
Polycystic kidney disease (PKD) is a multiorgan disorder resulting in fluid-filled cyst formation in the kidneys and other systems. The replacement of kidney parenchyma with an ever-increasing volume of cysts eventually leads to kidney failure. Recently,
Niloofar Nobakht, Ramy M. Hanna, Maha Al-Baghdadi, Khalid Mohammed Ameen, Farid Arman, Ehsan Nobahkt, Mohammad Kamgar, Anjay Rastogi   +7 more
doaj   +1 more source

Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment

International Journal of Molecular Sciences, 2022
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disease, with an estimated prevalence between 1:1000 and 1:2500. It is mostly caused by mutations of the PKD1 and PKD2 genes encoding polycystin 1 (PC1) and polycystin ...
J. Reiterová, V. Tesar
semanticscholar   +1 more source

Autosomal dominant polycystic kidney disease in Colombia

BMC Nephrology, 2023
Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of chronic kidney disease (CKD) that requires dialysis.
Jessica T. Camargo, Camilo A González, Lina Herrera, Nancy Yomayusa-González, Milciades Ibañez, Ana M. Valbuena-García, Lizbeth Acuña-Merchán   +6 more
doaj   +1 more source

Defining cellular complexity in human autosomal dominant polycystic kidney disease by multimodal single cell analysis

bioRxiv, 2021
Autosomal dominant polycystic kidney disease (ADPKD) is the leading genetic cause of end stage renal disease and is characterized by the formation and progressive expansion of kidney cysts. Most ADPKD cases arise from mutations in either the PKD1 or PKD2
Yoshiharu Muto, E. Dixon, Yasuhiro Yoshimura, Haojia Wu, K. Omachi, Andrew King, E. Olson, Marvin G. Gunawan, J. Kuo, J. Cox, J. Miner, S. Seliger, O. Woodward, P. Welling, T. Watnick, B. Humphreys   +15 more
semanticscholar   +1 more source