Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report [PDF]
, 2016 Townes‑Brocks syndrome (TBS) is a rare autosomal dominant congenital anomaly syndrome characterized by the triad of anorectal, hand and external ear malformations. Kidney involvement is less common and may progress to end‑stage renal failure (ESRF) early
Bian, F +6 more
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Renal Transplantation in Autosomal Dominant Polycystic Kidney Disease [PDF]
European Medical Journal Nephrology, 2015 Autosomal dominant polycystic kidney disease (ADPKD) affects approximately 1 in 1,000 people in the general population. The natural history of ADPKD includes the progression of chronic kidney disease to end-stage renal disease (ESRD) in a large ...
Andrzej Kulesza +2 more
doaj
Autosomal-dominante polyzystische Nierenerkrankung: Neue therapeutische Ansätze [PDF]
, 2018 Zusammenfassung: Die autosomal-dominante polyzystische Nierenerkrankung ("autosomal dominant polycystic kidney disease", ADPKD) ist die häufigste genetische Nierenerkrankung, sie betrifft weltweit etwa 6Mio. Menschen.
Poster, D., Serra, A.L., Wüthrich, R.P.
core
Long-term effect of coffee consumption on autosomal dominant polycystic kidneys disease progression: results from the Suisse ADPKD, a Prospective Longitudinal Cohort Study [PDF]
, 2018 BACKGROUND Previous in vitro experiments of human polycystic kidney disease (PKD) cells reported that caffeine is a risk factor for the promotion of cyst enlargement in patients with autosomal dominant PKD (ADPKD).
Braun, Julia +3 more
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HYPERTENSION IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
Turkish Journal of Nephrology, 2019 -
Züleyha AKKAN, Tevfık ECDER
doaj
Activation of PIEZO1 Attenuates Kidney Cystogenesis In Vitro and Ex Vivo
Kidney360Key Points. PIEZO1 activation reduces cystogenesis: Yoda1 activates PIEZO1, raising calcium and lowering cAMP, reducing cyst growth in autosomal dominant polycystic kidney disease models.
Qingfeng Fan +12 more
doaj +1 more source
New rat model that phenotypically resembles autosomal recessive polycystic kidney disease [PDF]
, 2000 Numerous murine models of polycystic kidney disease (PKD) have been described. While mouse models are particularly well suited for investigating the molecular pathogenesis of PKD, rats are well established as an experimental
Dokkum, R.P.E. (Richard) van +8 more
core +1 more source
Health-related quality of life across all stages of autosomal dominant polycystic kidney disease [PDF]
, 2016 Background. A limited number of studies have assessed health related quality of life (HRQoL) in autosomal dominant polycystic kidney disease (ADPKD). Results to date have been conflicting and studies have generally focused on patients with later stages ...
Dieperink, Hans +7 more
core +2 more sources
Long-term trajectory of kidney function in autosomal-dominant polycystic kidney disease.
Kidney International, 2019 Autosomal dominant polycystic kidney disease (ADPKD) is characterized by cyst and kidney growth, which is hypothesized to cause loss of functioning renal mass and eventually end-stage kidney disease.
A. Yu +12 more
semanticscholar +1 more source
A Case of Renal Transcatheter Arterial Embolization with Ethanol in Autosomal Dominant Polycystic Kidney Disease for Volume Reduction [PDF]
, 2011 We report herein the case of a 76-year-old woman with autosomal dominant polycystic kidney disease (ADPKD) and chronic renal failure resulting in intractable abdominal distension and anorexia.
Gobara, Hideo +5 more
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