Results 71 to 80 of about 23,951 (234)
ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies [PDF]
, 2014 Renal cysts are clinically and genetically heterogeneous conditions. Polycystic kidney disease (PKD) is common and its characterization has paved the way for the identification of a growing number of cilia-related disorders (ciliopathies) of which most ...
Carsten Bergmann
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Italian Journal of Pediatrics, 2020 Introduction Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12.
G. Serra +8 more
semanticscholar +1 more source
Prenatal Diagnosis, Volume 46, Issue 1, Page 46-55, January 2026.ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang +21 more
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Zdorovʹe Rebenka, 2012 The article deals with features of polycystic kidney disease course at the present stage according to literature data and results of own clinical studies. It was proved that autosomal recessive polycystic kidney disease has the most unfavorable prognosis:
I.S. Lembryk +3 more
doaj +1 more source
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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Emerging Therapies for Childhood Polycystic Kidney Disease
Frontiers in Pediatrics, 2017 Cystic kidney diseases comprise a varied collection of hereditary disorders, where renal cysts comprise a major element of their pleiotropic phenotype.
William E. Sweeney, Ellis D. Avner
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Combined paediatric liver-kidney transplantation: analysis of our experience [PDF]
, 2014 Thesis (M.Med.(General Surgery)--University of the Witwatersrand, Faculty of Health Sciences, 2014.Background. Renal insufficiency is increasingly common in end-stage liver disease and allocation of livers to this category of patient has escalated.
Strobele, Bernd
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Potential and pitfalls in the genetic diagnosis of kidney diseases [PDF]
, 2017 Next-generation sequencing has dramatically decreased the cost of gene sequencing, facilitating the simultaneous analysis of multiple genes at the same time; obtaining a genetic result for an individual patient has become much easier.
Ashton, E, Bockenhauer, D, Kesselheim, A
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Scientific Reports, 2020 To test the association between bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD) and long-term clinical outcome and to identify risk factors for severe outcomes, a dataset comprising 504 patients from the ...
K. Burgmaier +97 more
semanticscholar +1 more source
Impact of Anesthesia Strategy on Infant Pulmonary Function Test Quality and Duration
Pediatric Pulmonology, Volume 61, Issue 1, January 2026.ABSTRACT Introduction While chloral hydrate (CH) has been standard for infant pulmonary function testing (iPFT) sedation, CH shortages are necessitating use of different sedation approaches. We aimed to compare the safety, test duration, and test quality of alternative sedation strategies for iPFT.
Aditi K. Zaveri +5 more
wiley +1 more source