Results 11 to 20 of about 21,454 (214)

An Unusual Cardiac Manifestation in Autosomal Dominant Polycystic Kidney Disease [PDF]

Case Reports in Nephrology, 2012
Autosomal dominant polycystic kidney disease is a common hereditary disorder characterized by renal and extrarenal, cystic and noncystic manifestations. Connective tissue defects, including cerebral aneurysm, meningeal diverticula, abdominal wall hernias,
Fausta Catapano, Stefano Pancaldi, Carlo Pace Napoleone, Lucia Barbara De Sanctis, Gaetano Gargiulo, Giuseppe Emiliani, Antonio Santoro   +6 more
doaj   +2 more sources

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
doaj   +1 more source

Relevance of ultrasound examination in general practice. A case report of a patient with autosomal dominant polycystic kidney disease

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, Anna Plewa   +1 more
doaj   +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   +1 more source

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, Giuseppe Giugliano, Giovanni Esposito   +2 more
doaj   +2 more sources

Hypertension in autosomal dominant polycystic kidney disease

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., Hossack, Kenneth F., Gabow, Patricia A., Durr, Jacques A., Johnson, Ann M., Schrier, Robert W.   +5 more
openaire   +3 more sources

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
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 [PDF]

BMJ, 1994
When the BMJ last published an editorial on adult autosomal dominant polycystic kidney disease1 there was no chromosomal assignment for the disorder. Two have since been recognised. The first, designated PKD-1,2 has been localised to a narrow region of about half a million base pairs on the short arm of chromosome 16, but the specific gene has not yet ...
A K, Saggar-Malik, S, Jeffery, M A, Patton   +2 more
openaire   +2 more sources