An Empirical Biomarker-based Calculator for Autosomal Recessive Polycystic Kidney Disease - The Nieto-Narayan Formula [PDF]
, 2016 Autosomal polycystic kidney disease (ARPKD) is associated with progressive enlargement of the kidneys fuelled by the formation and expansion of fluid-filled cysts. The disease is congenital and children that do not succumb to it during the neonatal period will, by age 10 years, more often than not, require nephrectomy+renal replacement therapy for ...
Goldberg, Itzhak D. +3 more
arxiv +8 more sources
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1 [PDF]
, 2018 Biliary atresia (BA) is a rare pediatric cholangiopathy characterized by fibrosclerosing obliteration of the extrahepatic bile ducts, leading to cholestasis, fibrosis, cirrhosis, and eventual liver failure.
Bailey-Wilson, Joan E +12 more
core +2 more sources
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
core +2 more sources
Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease [PDF]
, 1990 In 15 pregnancies at risk of the autosomal recessive type of polycystic kidney disease (ARPKD), there were six recurrences (40%), five of which were diagnosed prenatally between 17 and 26 weeks (mean, 22 weeks).
Niermeijer, M.F. (Martinus) +3 more
core +2 more sources
Cystic kidney diseases: many ways to form a cyst [PDF]
, 2012 Renal cysts are a common radiological finding in both adults and children. They occur in a variety of conditions, and the clinical presentation, management, and prognosis varies widely.
Loftus, H., Ong, A.C.M.
core +1 more source
Dominant and Recessive Polycystic Kidney Disease: A Novel Molecular Diagnostics Approach Based on Next-Generation Sequencing [PDF]
, 2017 Polycystic Kidney Disease (PKD) is the most common genetic cause of kidney failure in children and adults and can be inherited as an autosomal dominant trait (ADPKD) or an autosomal recessive trait (ARPKD). ADPKD is the most common form, characterized by
Minardi, Raffaella <1987>
core +1 more source
Evidence that two phenotypically distinct mouse PKD mutations, bpk and jcpk, are allelic [PDF]
, 1996 Evidence that two phenotypically distinct mouse PKD mutations, bpk and jcpk, are allelic. Numerous mouse models of polycystic kidney disease (PKD) have been described.
Avner, Ellis D. +7 more
core +1 more source
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
core +1 more source
Distinct roles of transcription factors EGL-46 and DAF-19 in specifying the functionality of a polycystin-expressing sensory neuron necessary for C. elegans male vulva location behavior [PDF]
, 2003 Caenorhabditis elegans polycystins LOV-1 and PKD-2 are expressed in the male-specific HOB neuron, and are necessary for sensation of the hermaphrodite vulva during mating. We demonstrate that male vulva location behavior and expression of lov-1 and pkd-2
Bürglin, Thomas R. +3 more
core +1 more source
Multiple cerebral aneurysms in an adult with autosomal recessive polycystic kidney disease [PDF]
, 2021 [Extract] Autosomal recessive polycystic kidney disease(ARPKD) is a rare form offibrocystic kidneydisease that affects approximately 1 in 20,000 live births.
Clouston, John +5 more
core +1 more source