Results 181 to 190 of about 15,419 (219)

Zystennieren - ADPKD

2020
Arzt und Betroffene beantworten gemeinsam kompetent und einfühlsam alle drängenden Fragen bei ADPKD ADPKD ist eine der häufigsten, lebensbedrohlichen genetischen Erkrankungen, aber immer noch zu wenig bekannt. Die Erkrankung kann lange symptomlos verlaufen und wird daher oft erst spät diagnostiziert.
Rosi Brack, Andreas Serra
openaire   +1 more source

Genetic Mechanisms of ADPKD

2016
Autosomal dominant polycystic kidney disease is caused by mutation of PKD1 (polycystic kidney disease-1) or PKD2 (polycystic kidney disease-2). PKD1 and PKD2 encode PC1 (polycystin-1) and PC2 (polycystin-2), respectively. In addition, the mutation of cilia-associated proteins is also a recognized major factor of pathogenesis, since PC1 and PC2 are ...
Do Yeon, Kim, Jong Hoon, Park
openaire   +2 more sources

Thirst intensity survey in ADPKD patients

Clinical and Experimental Nephrology, 2023
With increased fluid intake and tolvaptan treatment, the growth rate of cysts can be theoretically decelerated in autosomal polycystic kidney disease. In this prospective study, it was planned to evaluate thirst sensation in these patients and the parameters affecting its intensity.Forty-one ADPKD patients on tolvaptan and 40 ADPKD patients not on ...
Sibel Gokcay Gocay Bek, Nuriye Yıldız, Mahmud Islam, Metin Ergul, Irem Sarıoglu, Dilek Guven Taymez, Necmi Eren, Hande Uslu, Mesude Tosun, Erkan Dervisoglu, Betul Kalender, Sibel Balcı, Nana Waldreus   +12 more
openaire   +3 more sources

[ADPKD and Heart].

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia, 2017
Autosomal Polycystic Kidney Disease ( ADPKD) is the most common inherited renal disease. ADPKD is caused by mutations in PKD1 and PKD2, encoding polycystin 1 and 2, respectively. ADPKD is a systemic disease, with renal and extrarenal involvement. Renal disease is characterized by formation and growth of cysts, with progressive destruction of renal ...
Liut, Francesca, Izzi, Claudia, Dallera, Nadia, Scolari, Francesco   +3 more
openaire   +2 more sources

A pilot study to evaluate tolerability and safety of a modified Atkins diet in ADPKD patients

PharmaNutrition, 2019
Background Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the fourth cause of end stage renal disease (ESRD) and urgently requires the development of effective therapeutic treatments.
F. Testa, M. Marchiò, M. Belli, S. Giovanella, G. Ligabue, G. Cappelli, G. Biagini, R. Magistroni   +7 more
semanticscholar   +1 more source

Recent Trends in ADPKD Research

2016
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common inherited disorders. It is the fourth leading cause of renal replacement and renal failure worldwide. Mutations in PKD1 or PKD2 cause ADPKD. Patients with ADPKD show progressive growth of renal cysts filled with cystic fluid, leading to end-stage renal disease (ESRD) and ...
Yu Bin, Shin, Jong Hoon, Park
openaire   +2 more sources

In vitro cyst formation of ADPKD cells.

Methods in Cell Biology, 2019
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder characterized by the relentless growth of numerous fluid-filled cysts in the kidneys.
Madhulika Sharma, Gail Reif, D. Wallace
semanticscholar   +1 more source

[Molecular diagnosis of ADPKD].

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia, 2016
Most patients with ADPKD do not need molecular genetic testing. When indicated, Sanger sequencing is the most commonly used technique. When a pathogenic mutation is not identified by Sanger, multiplex ligation-dependent probe amplification analysis (MLPA) should be performed to detect gene rearrangement (insertion or deletion).
SCOLARI, Francesco, Savoldi, Gianfranco, Mazza, Cinzia, Izzi, Claudia   +3 more
openaire   +2 more sources

[Next Generation Sequencing and ADPKD].

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia, 2015
Autosomal Dominant Polycistic Kidney Disease (ADPKD) is the most common inherited genetic disorder in the word, caused by mutations in PKD1 gene in 85% of cases and PKD 2 gene in the remaining 15%. Although diagnosis is usually based on ultrasound, MRI and CT scans, in some cases genetic testing is necessary, for example, in patients with atypical ...
Restivo, Arianna, Di Fruscio, Giuseppina, Masella, Cristina, Rinaldi, Luca, Capolongo, Giovanna, Raiola, Ilaria, Capasso, Giovambattista   +6 more
openaire   +4 more sources

Inflammation and Fibrosis in ADPKD

2016
Diverse signaling pathways have been reported to be associated with polycystic kidney disease (PKD). Cell proliferation is widely known to be an important pathway related to this disease. However, studies on the interactions of inflammation and fibrosis with polycystic kidney disease have been limited.
Hyowon, Mun, Jong Hoon, Park
openaire   +2 more sources