Cystic and inherited kidney diseases.
American Journal of Kidney Diseases, 2003 Dana V. Rizk, A. Chapman
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Cystic kidney disease: a primer.
Advances in Chronic Kidney Disease, 2015 Renal cystic diseases encompass a broad group of disorders with variable phenotypic expression. Cystic disorders can present during infancy, childhood, or adulthood. Often, but not always, they can be distinguished by the clinical features including age at presentation, renal imaging characteristics, including cyst distribution, and the presence ...
Monica T. Cramer, L. Guay-Woodford
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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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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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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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c-Jun N-terminal kinase (JNK) signaling contributes to cystic burden in polycystic kidney disease.
PLoS Genetics, 2021 Polycystic kidney disease is an inherited degenerative disease in which the uriniferous tubules are replaced by expanding fluid-filled cysts that ultimately destroy organ function.
Abigail O Smith +4 more
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Kidney International, 2018 Molecular diagnosis of inherited kidney diseases remains a challenge due to their expanding phenotypic spectra as well as the constantly growing list of disease-causing genes.
Gemma Bullich +18 more
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Severe chest allodynia as an unusual first presentation of hydatid disease. A case report [PDF]
, 2019 Background: Cystic echinococcosis (CE) is a worldwide zoonosis and the liver is the most commonly affected organ. Clinical manifestations range from completely asymptomatic cysts to a potential lethal cyst rupture and anaphylaxis.
Caruso, Damiano +6 more
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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
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Measuring the burden of treatment for chronic disease: implications of a scoping review of the literature [PDF]
, 2017 Background: Although there has been growing research on the burden of treatment, the current state of evidence on measuring this concept is unknown.
Mair, Frances S. +3 more
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