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Autosomal Dominant Polycystic Kidney Disease [PDF]
Advances in Chronic Kidney Disease, 2010 Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic form of kidney disease and affects 1 in 500 to 1,000 individuals worldwide, regardless of ethnicity. It is characterized by progressive renal cyst formation, which distorts normal kidney architecture and ultimately causes 5% of all cases of end-stage renal disease (ESRD) in
York, Pei, Terry, Watnick
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Autosomal dominant polycystic kidney disease [PDF]
Canadian Medical Association Journal, 2017 Mutations in PKD1 or PKD2 cause autosomal dominant polycystic kidney disease, which proceeds to kidney failure in 70% of patients between the fourth and seventh decade of life.[1][1] Signs of autosomal dominant polycystic kidney disease (i.e., numerous cysts and enlargement of the kidneys) may ...
Matthew B, Lanktree, Arlene B, Chapman
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Chinese clinical practice guide for autosomal dominant polycystic kidney disease
Linchuang shenzangbing zazhi, 2019 常染色体显性多囊肾病(autosomal dominant polycystic kidney disease, ADPKD)是最常见的遗传性肾病,患病率为1/400～1/1000[1]。ADPKD主要致病基因有两个,PKD1和PKD2,其突变导致疾病分别约占发病人群的85%和15%[2-3]。该病为常染色体显性遗传病,子代发病机率为50%。患者多在成年后出现双侧肾脏囊肿,随年龄增长,逐渐损害肾脏结构和功能[4 ...
Expert Committee on Clinical Practice Guidelines for Autosomal Dominant Polycystic Kidney Disease
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Autosomal dominant polycystic kidney disease [PDF]
The Lancet, 2007 Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal, monogenic disorder. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes.
Vicente E, Torres +2 more
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Relevance of ultrasound examination in general practice. A case report of a patient with autosomal dominant polycystic kidney disease [PDF]
Journal of Ultrasonography, 2013 Autosomal dominant polycystic kidney disease is a genetic disorder which results in the development of multiple cysts in the kidneys and other parenchymal organs. The two genes in which mutations are known to cause autosomal dominant polycystic kidney
Izabela Cwojdzińska-Jankowska +1 more
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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 +6 more
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Cardiac Involvement in Autosomal Dominant Polycystic Kidney Disease
Cardiogenetics, 2021 Cardiovascular disorders are the main complication in autosomal dominant polycystic kidney disease (ADPKD). contributing to both morbidity and mortality.
Letizia Spinelli +2 more
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Hypertension in autosomal dominant polycystic kidney disease [PDF]
Kidney International, 1988 Autosomal dominant polycystic kidney disease (ADPKD) has been shown to be associated with a greater than 50 percent incidence of hypertension prior to deterioration in renal function as assessed by glomerular filtration rate. The present study provides evidence for increased cardiac pre-load, as assessed by plasma atrial natriuretic factor (ANF) and ...
Bell, Patricia E. +5 more
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Autosomal dominant polycystic kidney disease in children
Saudi Journal of Kidney Diseases and Transplantation, 2016 Autosomal dominant polycystic kidney disease (ADPKD) presenting in adults is well documented, but the presentation in children is uncommon and is unclear why the disease presents early.
Kiran Chandra Patro +2 more
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New Therapies Targeting Cystogenesis in Autosomal Polycystic Kidney Disease [PDF]
European Medical Journal Nephrology, 2017 Autosomal dominant polycystic kidney disease is the most common inherited kidney disease and results from mutations in the polycystin 1 gene (PKD1) or the polycystin 2 gene (PKD2).
Maurizio Salvadori, Aris Tsalouchos
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