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Autosomal dominant polycystic kidney disease in the fetus
American Journal of Medical Genetics, 1994AbstractWe report on 3 cases with a fetal presentation of autosomal dominant polycystic kidney disease (ADPKD), which illustrate the variable expression of ADPKD during fetal life. Fetus 1 was diagnosed at 20 weeks of gestation by ultrasonography; a molecular prenatal diagnosis was performed at 10 weeks on fetus 2, a sib of fetus 1; and ADPKD was an ...
J, Michaud +7 more
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Diagnosis of autosomal dominant polycystic kidney disease
Expert Opinion on Medical Diagnostics, 2008Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and accounts for 5 - 10% of end stage renal disease. Mutations of two genes, PKD1 and PKD2, account for ∼ 85 and ∼ 15% of cases, respectively.This paper reviews the clinical features of ADPKD, highlights the current roles for image- and molecular-based ...
York, Pei, Xiao, Zhao
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Pregnancy in Autosomal Dominant Polycystic Kidney Disease
Advances in Kidney Disease and Health, 2023Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disorder occurring in approximately 1:1000 individuals. ADPKD is characterized by gradual cyst expansion and kidney enlargement and is a slowly progressive disorder where patients typically initiate renal replacement therapy in the sixth decade of life.
Mina, Al Sayyab, Arlene, Chapman
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Autosomal Dominant Polycystic Kidney Disease
New England Journal of Medicine, 1990Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disease occurring in 1 in 200 to 1 in 1,000 individuals. ADPKD is characterized by cystic lesions in the kidneys and often by structural abnormalities in the gastrointestinal tract and cardiovascular system.
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Nephrolithiasis in Autosomal Dominant Polycystic Kidney Disease
Journal of Endourology, 2010Autosomal dominant polycystic kidney disease (ADPKD) manifests with renal and extrarenal abnormalities and is inherited in an autosomal dominant fashion. In addition to multiple renal cysts, abnormalities such as liver cysts (80%), pancreatic cysts, splenic cysts, pulmonary cysts, berry aneurysms in the distribution of arterial circle of Willis (8 ...
Uwais B, Mufti, Sarath K, Nalagatla
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Autosomal dominant polycystic kidney disease
BMJ, 2016#### What you need to know Polycystic kidney disease (PKD) is an inherited condition defined by the pathological development of fluid-filled cysts throughout the kidneys leading to organ enlargement (fig 1⇓) and chronic kidney disease. Autosomal dominant polycystic kidney disease (ADPKD) is the commonest inherited kidney disease1 and is the fourth ...
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Current management of autosomal dominant polycystic kidney disease (ADPKD) is focused on treating disease complications, not on slowing cyst development or preventing progression to kidney failure.
Vicente E Torres +2 more
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Hypertension in autosomal dominant polycystic kidney disease
Current Opinion in Nephrology and Hypertension, 1995Hypertension occurs frequently in autosomal dominant polycystic kidney disease. Increased activity of the renin-angiotensin system contributes to the development and maintenance of hypertension before the development of renal failure. Angiotensin-converting enzyme inhibitors are indicated for treatment of hypertension before the development of renal ...
P S, Parfrey, B J, Barrett
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Angiogenesis and autosomal dominant polycystic kidney disease
Pediatric Nephrology, 2012Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the growth of multiple cysts that in many cases result in end-stage renal disease. Current strategies to reduce cyst progression in ADPKD focus on modulating cell turnover, fluid secretion, and vasopressin signalling; but an alternative approach may be to target pathways providing
Huang, JL +2 more
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MRI in autosomal dominant polycystic kidney disease
Journal of Magnetic Resonance Imaging, 2019Magnetic resonance imaging (MRI) is increasingly used in autosomal dominant polycystic kidney disease (ADPKD) for diagnosis, classification, assessment of disease progression and treatment response, and for identifying complications. Herein we review the role of MRI in the management of patients with ADPKD.
Weiguo Zhang +2 more
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