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Autosomal dominant polycystic kidney disease

The Lancet, 2019
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and one of the most common causes of end-stage kidney disease. Multiple clinical manifestations, such as enlarged kidneys filled with growing cysts, hypertension, and multiple extrarenal complications, including liver cysts, intracranial aneurysms, and ...
Emilie, Cornec-Le Gall, Ahsan, Alam, Ronald D, Perrone   +2 more
semanticscholar   +5 more sources

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   +2 more sources

Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.

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.
Alexander R. Chang, B. Moore, Jonathan Z. Luo, G. Sartori, Brian Fang, Steven Jacobs, Yoosif Abdalla, Mohammed Taher, D. Carey, W. Triffo, Gurmukteshwar Singh, T. Mirshahi   +11 more
semanticscholar   +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

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

Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Journal of Clinical Medicine, 2022
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cystic kidney disease, with patients often having a positive family history that is characterized by a similar phenotype. However, in atypical cases, particularly those in
Akinari Sekine, S. Hidaka, T. Moriyama, Yasuto Shikida, Keiji Shimazu, E. Ishikawa, K. Uchiyama, H. Kataoka, Haruna Kawano, Mahiro Kurashige, Mai Sato, Tatsuya Suwabe, S. Nakatani, T. Otsuka, H. Kai, K. Katayama, S. Makabe, S. Manabe, Wataru Shimabukuro, K. Nakanishi, Saori Nishio, Fumihiko Hattanda, K. Hanaoka, K. Miura, H. Hayashi, J. Hoshino, K. Tsuchiya, T. Mochizuki, S. Horie, I. Narita, S. Muto   +30 more
semanticscholar   +1 more source

Ferroptosis Promotes Cyst Growth in Autosomal Dominant Polycystic Kidney Disease Mouse Models

Journal of the American Society of Nephrology, 2021
Significance Statement This study demonstrates for the first time a role of ferroptosis in ADPKD. We show the Pkd1 mutation makes renal epithelial cells prone to ferroptosis through the dysregulation of iron and lipid metabolism.
Xiao-qin Zhang, L. X. Li, Hao Ding, V. Torres, Chen Yu, Xiaogang Li   +5 more
semanticscholar   +1 more source

Extracellular vesicles and exosomes generated from cystic renal epithelial cells promote cyst growth in autosomal dominant polycystic kidney disease

Nature Communications, 2021
Autosomal dominant polycystic kidney disease (ADPKD) is caused by germline mutations of PKD1 or PKD2 on one allele and a somatic mutation inactivating the remaining normal allele.
Hao Ding, L. X. Li, P. Harris, Junwei Yang, Xiaogang Li   +4 more
semanticscholar   +1 more source

Metformin Therapy in Autosomal Dominant Polycystic Kidney Disease: A Feasibility Study.

American Journal of Kidney Diseases, 2021
RATIONALE & OBJECTIVE Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited disorder that leads to kidney failure and has few treatment options. Metformin is well tolerated and safe in other patient populations. The primary objective
G. Brosnahan, Wen Wang, Berenice Y. Gitomer, Taylor Struemph, Diana M George, Zhiying You, Kristen L. Nowak, J. Klawitter, M. Chonchol   +8 more
semanticscholar   +1 more source

The tyrosine-kinase inhibitor Nintedanib ameliorates autosomal-dominant polycystic kidney disease

Cell Death and Disease, 2021
Autosomal-dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease and is characterized by progressive growth of fluid-filled cysts. Growth factors binding to receptor tyrosine kinases (RTKs) stimulate cell proliferation and
Abeda Jamadar, S. Suma, Sijo Mathew, T. Fields, D. Wallace, J. Calvet, Reena Rao   +6 more
semanticscholar   +1 more source