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https://www.readbyqxmd.com/read/27891514/evidence-for-a-pathogenic-triumvirate-in-congenital-hepatic-fibrosis-in-autosomal-recessive-polycystic-kidney-disease
#1
REVIEW
Lu Jiang, Pingping Fang, James L Weemhoff, Udayan Apte, Michele T Pritchard
Autosomal recessive polycystic kidney disease (ARPKD) is a severe monogenic disorder that occurs due to mutations in the PKHD1 gene. Congenital hepatic fibrosis (CHF) associated with ARPKD is characterized by the presence of hepatic cysts derived from dilated bile ducts and a robust, pericystic fibrosis. Cyst growth, due to cyst wall epithelial cell hyperproliferation and fluid secretion, is thought to be the driving force behind disease progression. Liver fibrosis is a wound healing response in which collagen accumulates in the liver due to an imbalance between extracellular matrix synthesis and degradation...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27843768/functional-alterations-due-to-amino-acid-changes-and-evolutionary-comparative-analysis-of-arpkd-and-adpkd-genes
#2
Burhan M Edrees, Mohammad Athar, Zainularifeen Abduljaleel, Faisal A Al-Allaf, Mohiuddin M Taher, Wajahatullah Khan, Abdellatif Bouazzaoui, Naffaa Al-Harbi, Ramzia Safar, Howaida Al-Edressi, Khawala Alansary, Abulkareem Anazi, Naji Altayeb, Muawia A Ahmed
A targeted customized sequencing of genes implicated in autosomal recessive polycystic kidney disease (ARPKD) phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing. The results identified four potential pathogenic variants in PKHD1 gene [c.4870C > T, p.(Arg1624Trp), c.5725C > T, p.(Arg1909Trp), c.1736C > T, p.(Thr579Met) and c.10628T > G, p.(Leu3543Trp)] among 12 out of 18 samples. However, one variant c.4870C > T, p.(Arg1624Trp) was common among eight patients...
December 2016: Genomics Data
https://www.readbyqxmd.com/read/27752906/genetic-analysis-of-the-pkhd1-gene-with-long-rang-pcr-sequencing
#3
Yong-Qing Tong, Bei Liu, Chao-Hong Fu, Hong-Yun Zheng, Jian Gu, Hang Liu, Hong-Bo Luo, Yan Li
PKHD1 gene mutations are found responsible for autosomal recessive polycystic kidney disease (ARPKD). However, it is inconvenient to detect the mutations by common polymerase chain reaction (PCR) because the open reading frame of PKHD1 is very long. Recently, long-range (LR) PCR is demonstrated to be a more sensitive mutation screening method for PKHD1 by directly sequencing. In this study, the entire PKHD1 coding region was amplified by 29 reactions to avoid the specific PCR amplification of individual exons, which generated the size of 1 to 7 kb products by LR PCR...
October 2016: Journal of Huazhong University of Science and Technology. Medical Sciences
https://www.readbyqxmd.com/read/27695033/an-empirical-biomarker-based-calculator-for-cystic-index-in-a-model-of-autosomal-recessive-polycystic-kidney-disease-the-nieto-narayan-formula
#4
Jake A Nieto, Michael A Yamin, Itzhak D Goldberg, Prakash Narayan
Autosomal recessive 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 management of both pain and renal insufficiency. Since increasing cystic index (CI; percent of kidney occupied by cysts) drives both renal expansion and organ dysfunction, management of these patients, including decisions such as elective nephrectomy and prioritization on the transplant waitlist, could clearly benefit from serial determination of CI...
2016: PloS One
https://www.readbyqxmd.com/read/27577217/-analysis-of-pkhd1-gene-mutation-in-a-family-affected-with-infantile-polycystic-kidney-disease
#5
Yanbao Xiang, Huanzheng Li, Chenyang Xu, Xueqin Dong, Xueqin Xu, Chong Chen, Shaohua Tang
OBJECTIVE: To analyze PKHD1 gene mutation in a family affected with autosomal recessive polycystic kidney disease (ARPKD). METHODS: Genomic DNA was extracted from peripheral and cord blood samples obtained from the parents and the fetus. Potential mutations were identified using targeted exome sequencing and confirmed by Sanger sequencing. Pathogenicity of the mutation was analyzed using PolyPhen-2 and SIFT software. RESULTS: Compound heterozygous mutations of c...
October 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27559537/growth-in-children-with-autosomal-recessive-polycystic-kidney-disease-in-the-ckid-cohort-study
#6
Erum A Hartung, Katherine M Dell, Matthew Matheson, Bradley A Warady, Susan L Furth
BACKGROUND: Previous studies have suggested that some children with autosomal recessive polycystic kidney disease (ARPKD) have growth impairment out of proportion to their degree of chronic kidney disease (CKD). The objective of this study was to systematically compare growth parameters in children with ARPKD to those with other congenital causes of CKD in the chronic kidney disease in Children (CKiD) prospective cohort study. METHODS: Height SD scores (z-scores), proportion of children with severe short stature (z-score < -1...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27555106/kidney-versus-combined-kidney-and-liver-transplantation-in-young-people-with-autosomal-recessive-polycystic-kidney-disease-data-from-the-european-society-for-pediatric-nephrology-european-renal-association-european-dialysis-and-transplant-espn-era-edta-registry
#7
Djalila Mekahli, Karlijn J van Stralen, Marjolein Bonthuis, Kitty J Jager, Ayşe Balat, Elisa Benetti, Nathalie Godefroid, Vidar O Edvardsson, James G Heaf, Augustina Jankauskiene, Larissa Kerecuk, Svetlana Marinova, Flora Puteo, Tomas Seeman, Aleksandra Zurowska, Jacques Pirenne, Franz Schaefer, Jaap W Groothoff
BACKGROUND: The choice for either kidney or combined liver-kidney transplantation in young people with kidney failure and liver fibrosis due to autosomal recessive polycystic kidney disease (ARPKD) can be challenging. We aimed to analyze the characteristics and outcomes of transplantation type in these children, adolescents, and young adults. STUDY DESIGN: Cohort study. SETTING & PARTICIPANTS: We derived data for children, adolescents, and young adults with ARPKD with either kidney or combined liver-kidney transplants for 1995 to 2012 from the ESPN/ERA-EDTA Registry, a European pediatric renal registry collecting data from 36 European countries...
November 2016: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/27540244/tolvaptan-use-in-severe-neonatal-autosomal-dominant-polycystic-kidney-disease-adpkd-the-pharmaceutical-challenge
#8
Kazeem Olalekan, Andy Fox, Rodney Gilbert
BACKGROUND: Unlicensed medications are used all the time in the management of diseases in childhood. Tolvaptan (Jinarc®) is a vasopressin V2-receptor antagonist licensed for use to slow the progression of cyst development and renal insufficiency of ADPKD in adults with CKD stage 1 to 3 with evidence of rapidly progressing disease. Studies of animal models implicate the antidiuretic hormone arginine vasopressin and its messenger cyclic adenosine monophosphate (cAMP) as promoters of kidney-cyst cell proliferation and luminal fluid secretion...
September 2016: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/27401137/next-generation-sequencing-for-molecular-diagnosis-of-autosomal-recessive-polycystic-kidney-disease
#9
Burhan M Edrees, Mohammad Athar, Faisal A Al-Allaf, Mohiuddin M Taher, Wajahatullah Khan, Abdellatif Bouazzaoui, Naffaa Al-Harbi, Ramzia Safar, Howaida Al-Edressi, Khawala Alansary, Abulkareem Anazi, Naji Altayeb, Muawia A Ahmed, Zainularifeen Abduljaleel
Autosomal recessive polycystic kidney disease (ARPKD) a rare genetic disorder, described by formation of cysts in the kidney. A targeted customized sequencing of genes implicated in ARPKD phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing. The results identified likely pathogenic disease causing variants during the validation process. Four potential pathogenic variants [c.4870C>T, p.(Arg1624Trp)], [c.5725C>T, p.(Arg1909Trp)], c.1736C>T, p.(Thr579Met)] and [(c...
October 10, 2016: Gene
https://www.readbyqxmd.com/read/27225849/expanding-the-mutation-spectrum-in-130-probands-with-arpkd-identification-of-62-novel-pkhd1-mutations-by-sanger-sequencing-and-mlpa-analysis
#10
Salvatore Melchionda, Teresa Palladino, Stefano Castellana, Mario Giordano, Elisa Benetti, Patrizia De Bonis, Leopoldo Zelante, Luigi Bisceglia
Autosomal recessive polycystic kidney disease (ARPKD) is a rare severe genetic disorder arising in the perinatal period, although a late-onset presentation of the disease has been described. Pulmonary hypoplasia is the major cause of morbidity and mortality in the newborn period. ARPKD is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene that is among the largest human genes. To achieve a molecular diagnosis of the disease, a large series of Italian affected subjects were recruited...
September 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27169740/clinical-scenarios-in-chronic-kidney-disease-cystic-renal-diseases
#11
Mario Meola, Sara Samoni, Ilaria Petrucci
Cysts are frequently found in chronic kidney disease (CKD) and they have a different prognostic significance depending on the clinical context. Simple solitary parenchymal cysts and peripelvic cysts are very common and they have no clinical significance. At US, simple cyst appears as a round anechoic pouch with regular and thin profiles. On the other hand, hereditary polycystic disease is a frequent cause of CKD in children and adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are the best known cystic hereditary diseases...
2016: Contributions to Nephrology
https://www.readbyqxmd.com/read/26970085/mechanism-of-pancreatic-and-liver-malformations-in-human-fetuses-with-short-rib-polydactyly-syndrome
#12
Christine K C Loo, Tamara N Pereira, Mette Ramsing, Ida Vogel, Olav B Petersen, Grant A Ramm
BACKGROUND: The short-rib polydactyly (SRP) syndromes are rare skeletal dysplasias caused by abnormalities in primary cilia, sometimes associated with visceral malformations. METHODS: The pathogenesis of ductal plate malformation (DPM) varies in different syndromes and has not been investigated in SRP. We have studied liver development in five SRP fetuses and pancreatic development in one SRP fetus, with genetically confirmed mutations in cilia related genes, with and without DPMs, using the immunoperoxidase technique, and compared these to other syndromes with DPM...
July 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/26831744/kidney-disease-progression-in-autosomal-recessive-polycystic-kidney-disease
#13
Katherine M Dell, Matthew Matheson, Erum A Hartung, Bradley A Warady, Susan L Furth
OBJECTIVE: To define glomerular filtration rate (GFR) decline, hypertension (HTN), and proteinuria in subjects with autosomal recessive polycystic kidney disease (ARPKD) and compare with 2 congenital kidney disease control groups in the Chronic Kidney Disease in Children cohort. STUDY DESIGN: GFR decline (iohexol clearance), rates of HTN (ambulatory/casual blood pressures), antihypertensive medication usage, left ventricular hypertrophy, and proteinuria were analyzed in subjects with ARPKD (n = 22) and 2 control groups: aplastic/hypoplastic/dysplastic disorders (n = 44) and obstructive uropathies (n = 44)...
April 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/26721323/an-ashkenazi-founder-mutation-in-the-pkhd1-gene
#14
Adina Quint, Michal Sagi, Shai Carmi, Hagit Daum, Michal Macarov, Ziva Ben Neriah, Vardiela Meiner, Orly Elpeleg, Israela Lerer
Autosomal recessive polycystic kidney disease (ARPKD) is usually detected late in pregnancies in embryos with large echogenic kidneys accompanied by oligohydramnios. Hundreds of private pathogenic variants have been identified in the large PKHD1 gene in various populations. Yet, because of the large size of the gene, segregation analysis of microsatellite polymorphic markers residing in the PKDH1 locus has commonly been utilized for prenatal diagnosis. Keeping in mind the limitations of this strategy, we utilized it for testing 7 families with affected fetuses or newborns, of which in 5 at least one parent was Ashkenazi, and identified that the same haplotype was shared by the majority of the Ashkenazi parents (7/9)...
February 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/26608869/initial-evaluation-of-hepatic-t1-relaxation-time-as-an-imaging-marker-of-liver-disease-associated-with-autosomal-recessive-polycystic-kidney-disease-arpkd
#15
Ying Gao, Bernadette O Erokwu, David A DeSantis, Colleen M Croniger, Rebecca M Schur, Lan Lu, Jose Mariappuram, Katherine M Dell, Chris A Flask
Autosomal recessive polycystic kidney disease (ARPKD) is a potentially lethal multi-organ disease affecting both the kidneys and the liver. Unfortunately, there are currently no non-invasive methods to monitor liver disease progression in ARPKD patients, limiting the study of potential therapeutic interventions. Herein, we perform an initial investigation of T1 relaxation time as a potential imaging biomarker to quantitatively assess the two primary pathologic hallmarks of ARPKD liver disease: biliary dilatation and periportal fibrosis in the PCK rat model of ARPKD...
January 2016: NMR in Biomedicine
https://www.readbyqxmd.com/read/26479061/-the-ciliopathies-polycystic-kidney-disease
#16
Angela Pesenti Gritti, Alessandra Boletta
The primary cilium is an organelle composed of microtubules that emerges from the cell surface. Its inappropriate structure or function leads to the onset of a series of disease conditions collectively defined as ciliopathies, a class of genetic disorders with a variety of manifestations in different organs. In the kidneys the ciliopathies manifest with renal cysts and propotype diseases are autosomal dominant and autosomal recessive polycystic kidney diseases (ADPKD and ARPKD, respectively) . ADPKD is one of the most frequent genetic disorders affecting 1: 500 to 1: 1000 at birth...
2015: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/26474782/laparoscopic-assisted-retroperitoneal-nephrectomy-in-autosomal-recessive-polycystic-kidney-disease
#17
Rebecca Cooksey, Mark N Woodward
OBJECTIVE: Autosomal recessive polycystic kidney disease (ARPKD) occurs in 1 in 20 000 live births. A mortality rate of 30-40% is reported, generally relating to pulmonary hypoplasia, and 60% require renal replacement therapy (RRT) by 10 years. In the neonatal period, the large kidneys can cause significant mass effect, with the need for prolonged respiratory support and difficulty in establishing feeds. Early postnatal peritoneal dialysis (PD) is required in up to 25%, and dialysis efficiency can similarly be compromised...
December 2015: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/26385851/compound-heterozygous-pkhd1-variants-cause-a-wide-spectrum-of-ductal-plate-malformations
#18
Jean-Benoît Courcet, Anne Minello, Fabienne Prieur, Laurent Morisse, Jean-Marc Phelip, Alain Beurdeley, Daniel Meynard, Denis Massenet, Flore Lacassin, Yannis Duffourd, Nadège Gigot, Judith St-Onge, Patrick Hillon, Claire Vanlemmens, Christiane Mousson, Jean-Pierre Cerceuil, Boris Guiu, Julien Thevenon, Christel Thauvin-Robinet, Emmanuel Jacquemin, Jean-Baptiste Rivière, Laurence Michel-Calemard, Laurence Faivre
Ductal plate malformations (DPM) present with a wide phenotypic spectrum comprising Von Meyenburg complexes (VMC), Caroli disease (CD), Caroli syndrome (CS), and autosomal recessive polycystic kidney disease (ARPKD). Variants in PKHD1 are responsible for ARPKD and CS with a high inter- and intra-familial phenotypic variability. Rare familial cases of CD had been reported and exceptional cases of CD are associated with PKHD1 variants. In a family of three siblings presenting with a wide spectrum of severity of DPM, we performed whole exome sequencing and identified two PKHD1 compound heterozygous variants (c...
December 2015: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26381526/implementing-patch-clamp-and-live-fluorescence-microscopy-to-monitor-functional-properties-of-freshly-isolated-pkd-epithelium
#19
Tengis S Pavlov, Daria V Ilatovskaya, Oleg Palygin, Vladislav Levchenko, Oleh Pochynyuk, Alexander Staruschenko
Cyst initiation and expansion during polycystic kidney disease is a complex process characterized by abnormalities in tubular cell proliferation, luminal fluid accumulation and extracellular matrix formation. Activity of ion channels and intracellular calcium signaling are key physiologic parameters which determine functions of tubular epithelium. We developed a method suitable for real-time observation of ion channels activity with patch-clamp technique and registration of intracellular Ca2+ level in epithelial monolayers freshly isolated from renal cysts...
2015: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/26354144/review-of-combined-liver-and-kidney-transplantation-in-children
#20
REVIEW
Rainer Ganschow, Bernd Hoppe
In this review, we focused on CLKT with regard to indication, results, outcome, and future developments. PH1 is one of the most common diagnoses for adult and pediatric patients qualifying for CLKT. The other major indication for combined transplantation is ARPKD. CLKT appears to be superior to sequential liver and kidney transplantation in the majority of patients and overall results following CLKT are now good, even in small children. Clinical observations suggest that there is an immunological advantage of CLKT in comparison with isolated liver or kidney transplantation...
December 2015: Pediatric Transplantation
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