Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2–5
Frontiers in Genetics, 2021 Renal hypodysplasia and cystic kidney diseases, the common non-glomerular causes of pediatric chronic kidney disease (CKD), are usually diagnosed by their clinical and imaging characteristics.
Xiaoyuan Wang +11 more
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The critical role of the Hippo signaling pathway in kidney diseases
Frontiers in Pharmacology, 2022 The Hippo signaling pathway is involved in cell growth, proliferation, and apoptosis, and it plays a key role in regulating organ size, tissue regeneration, and tumor development.
Yuting Sun +9 more
doaj +1 more source
Tuberous sclerosis complex as a rare cause of multiple nodular and cystic lung disease:a case report [PDF]
Jichu yixue yu linchuang, 2022 Objective To broaden the differential diagnosis thinking of diffuse cystic lung diseases and multiple nodular lung disease, and to deepen the understanding of clinical phenotypes of tuberous sclerosis complex (TSC).
WANG Ping, XU Zuo-jun, XU Kai-feng
doaj +1 more source
Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract [PDF]
, 2019 Background: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described.
Aguayo Calcena, Aníbal +5 more
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PLoS ONE, 2020 Cystic kidney diseases are a very heterogeneous group of chronic kidney diseases. The diagnosis is usually based on clinical and ultrasound characteristics and the final diagnosis is often difficult to be made.
Lena Obeidova +7 more
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Radiology, 2019 Kidney cysts can manifest as focal disease (simple and complex kidney cysts), affect a whole kidney (eg, multicystic dysplastic kidney or cystic dysplasia), or manifest as bilateral cystic disease (eg, autosomal recessive polycystic kidney disease [ARPKD]
C. Gimpel +17 more
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Approach to Inherited Cystic Kidney Disease
Güncel Pediatri, 2015 Cystic kidney diseases are the most frequent form of inherited kidney diseases which have different etiology, pathogenesis, clinical presentation and prognosis. Although diagnosis based on, family history, clinical presentation and imaging modalities, in
Aysel Taktak, Nilgün Çakar
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Vasopressin regulates the growth of the biliary epithelium in polycystic liver disease [PDF]
, 2016 The neurohypophysial hormone arginine vasopressin (AVP) acts by three distinct receptor subtypes: V1a, V1b, and V2. In the liver, AVP is involved in ureogenesis, glycogenolysis, neoglucogenesis and regeneration. No data exist about the presence of AVP in
Alpini, Gianfranco +11 more
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Fetal polycystic kidney disease: Pathological overview
Journal of the Scientific Society, 2013 Polycystic kidney disease is a rare developmental anomaly inherited as autosomal dominant or autosomal recessive. It is characterized by cystic dilatation of the collecting ducts frequently associated with hepatic involvement and progression to renal ...
Sunita B Patil +3 more
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p21 is decreased in polycystic kidney disease and leads to increased epithelial cell cycle progression: roscovitine augments p21 levels. [PDF]
, 2007 BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease with few treatment options other than renal replacement therapy. p21, a cyclin kinase inhibitor which has pleiotropic effects on the cell cycle, in many cases acts
Anderson, Sharon +6 more
core +3 more sources