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https://www.readbyqxmd.com/read/29062909/congenital-hepatic-fibrosis-in-a-9-year-old-female-patient-a-case-report
#1
Kamil Janowski, Maria Goliszek, Joanna Cielecka-Kuszyk, Irena Jankowska, Joanna Pawłowska
Congenital hepatic fibrosis (CHF) is a rare, autosomal recessive disorder, clinically characterized by hepatic fibrosis and portal hypertension. CHF results from ductal plate malformation (DPM) of the intrahepatic bile ducts. Four clinical forms can be observed: portal hypertensive, cholangitic, mixed and latent. CHF is one of the "fibropolycystic diseases" which also include several conditions with a variety of intrahepatic bile duct dilatation and associated periportal fibrosis such as Caroli disease, autosomal recessive and dominant polycystic kidney disease (ARPKD or ADPKD), Ivemark, Jeune, Joubert, Bardet-Biedl, Meckel-Gruber and Arima syndromes...
September 2017: Clin Exp Hepatol
https://www.readbyqxmd.com/read/28952822/recent-advances-in-the-molecular-diagnosis-of-polycystic-kidney-disease
#2
Carsten Bergmann
Polycystic kidney disease (PKD) is clinically and genetically heterogeneous and constitutes the most common heritable kidney disease. The majority of patients are affected by the autosomal dominant form (ADPKD) which generally is an adult-onset multisystem disorder. By contrast, the rarer recessive form ARPKD usually already manifests perinatally or in childhood. In some patients ADPKD and ARPKD can phenotypically overlap with early manifestation in ADPKD and only late onset in ARPKD. Progressive fibrocystic renal changes are often accompanied by severe hepatobiliary changes or other extrarenal abnormalities...
September 27, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28933340/renal-histology-and-mri-findings-in-a-37-year-old-japanese-patient-with-autosomal-recessive-polycystic-kidney-disease%C3%A2
#3
Yusuke Ito, Akinari Sekine, Daisuke Takada, Junko Yabuuchi, Yuta Kogure, Toshiharu Ueno, Keiichi Sumida, Masayuki Yamanouchi, Noriko Hayami, Tatsuya Suwabe, Junichi Hoshino, Naoki Sawa, Kenmei Takaichi, Keiichi Kinowaki, Takeshi Fujii, Kenichi Ohashi, Hiroaki Kikuchi, Shintaro Mandai, Motoko Chiga, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Yoshifumi Ubara
A 37-year-old Japanese man with a serum creatinine level of 2.5 mg/dL and hepatomegaly was admitted to our hospital for investigation of renal failure. Magnetic resonance imaging (MRI) showed hepatomegaly with small cystic lesions that had high signal intensity on T2-weighted images. There was no splenomegaly, and the kidneys were nearly normal in size with a few small cystic lesions. Renal biopsy revealed that interstitial fibrosis and tubular atrophy affected 60% of the cortex. There was cystic tubular dilation, mainly affecting the distal loop of Henle and distal tubules, since immunohistochemical staining of the dilated tubules was positive for cytokeratin 7 and Tamm-Horsfall protein but was negative for aquaporin 3 and CD10...
November 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28915934/increased-yap-activation-is-associated-with-hepatic-cyst-epithelial-cell-proliferation-in-arpkd-chf
#4
Lu Jiang, Lina Sun, Genea Edwards, Michael Manley, Darren P Wallace, Seth Septer, Chirag Manohar, Michele T Pritchard, Udayan Apte
Autosomal recessive polycystic kidney disease/congenital hepatic fibrosis (ARPKD/CHF) is a rare but fatal genetic disease characterized by progressive cyst development in the kidneys and liver. Liver cysts arise from aberrantly proliferative cholangiocytes accompanied by pericystic fibrosis and inflammation. Yes associated protein (YAP), the downstream effector of the Hippo signaling pathway, is implicated in human hepatic malignancies such as hepatocellular carcinoma, cholangiocarcinoma, and hepatoblastoma, but its role in hepatic cystogenesis in CHF/ARPKD is unknown...
September 15, 2017: Gene Expression
https://www.readbyqxmd.com/read/28798345/nedd4-family-e3-ligase-dysfunction-due-to-pkhd1-pkhd1-defects-suggests-a-mechanistic-model-for-arpkd-pathobiology
#5
Jun-Ya Kaimori, Cheng-Chao Lin, Patricia Outeda, Miguel A Garcia-Gonzalez, Luis F Menezes, Erum A Hartung, Ao Li, Guanqing Wu, Hideaki Fujita, Yasunori Sato, Yasuni Nakanuma, Satoko Yamamoto, Naotsugu Ichimaru, Shiro Takahara, Yoshitaka Isaka, Terry Watnick, Luiz F Onuchic, Lisa M Guay-Woodford, Gregory G Germino
Autosomal recessive polycystic kidney disease (ARPKD) is an important childhood nephropathy, occurring 1 in 20,000 live births. The major clinical phenotypes are expressed in the kidney with dilatation of the collecting ducts, systemic hypertension, and progressive renal insufficiency, and in the liver with biliary dysgenesis, portal tract fibrosis, and portal hypertension. The systemic hypertension has been attributed to enhanced distal sodium reabsorption in the kidney, the structural defects have been ascribed to altered cellular morphology, and fibrosis to increased TGF-β signaling in the kidney and biliary tract, respectively...
August 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28781369/polycystic-kidney-disease-fpc-in-arpkd
#6
Susan J Allison
No abstract text is available yet for this article.
August 7, 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28729967/tesevatinib-ameliorates-progression-of-polycystic-kidney-disease-in-rodent-models-of-autosomal-recessive-polycystic-kidney-disease
#7
William E Sweeney, Philip Frost, Ellis D Avner
AIM: To investigate the therapeutic potential of tesevatinib (TSV), a unique multi-kinase inhibitor currently in Phase II clinical trials for autosomal dominant polycystic kidney disease (ADPKD), in well-defined rodent models of autosomal recessive polycystic kidney disease (ARPKD). METHODS: We administered TSV in daily doses of 7.5 and 15 mg/kg per day by I.P. to the well characterized bpk model of polycystic kidney disease starting at postnatal day (PN) 4 through PN21 to assess efficacy and toxicity in neonatal mice during postnatal development and still undergoing renal maturation...
July 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/28612004/extracranial-aneurysms-in-2-patients-with-autosomal-recessive-polycystic-kidney-disease
#8
Daniel S Elchediak, Anne Marie Cahill, Emma E Furth, Bernard S Kaplan, Erum A Hartung
Unlike autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD) is not generally known to be associated with vascular abnormalities. Only 4 cases of ARPKD patients with intracranial aneurysms have been reported previously. We present 2 ARPKD patients with extracranial vascular abnormalities: a young man with infrarenal aortic and iliac artery aneurysms complicated by dissection and a teenage girl with multiple splenic and gastric artery aneurysms and arterial vascular malformations...
May 2017: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/28611971/diagnosis-and-management-of-hepatobiliary-complications-in-autosomal-recessive-polycystic-kidney-disease
#9
REVIEW
Andrew Wehrman, Alyssa Kriegermeier, Jessica Wen
Autosomal recessive polycystic kidney disease (ARPKD) is a congenital hepatorenal fibrocystic disease. The hepatic manifestations of ARPKD can range from asymptomatic to portal hypertension and massively dilated biliary system that results in liver transplantation. Hepatic complications of ARPKD typically present with signs of portal hypertension (splenomegaly and thrombocytopenia) or cholangitis. Liver disease in ARPKD does not always correlate with severity of renal disease. Management of ARPKD-related liver disease is largely treating specific symptoms, such as antibiotics for cholangitis or endoscopic treatment for variceal bleeding...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28597060/-early-bilateral-nephrectomy-in-neonatal-autosomal-recessive-polycystic-kidney-disease-improved-prognosis-or-unnecessary-effort
#10
REVIEW
S Riechardt, M Koch, J Oh, M Fisch
BACKGROUND: Neonatal autosomal recessive polycystic kidney disease (ARPKD) is associated with giant kidneys, lung hypoplasia, pulmonal hypertension, and end-stage renal failure. Depending on the study, mortality is reported to range between 20 and 80%. OBJECTIVES: Does bilateral nephrectomy improve survival? PATIENTS AND METHODS: Between 2010 and 2016, we treated 7 children with prenatally diagnosed ARPKD. All had a planned delivery by cesarean section...
July 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/28555180/risk-factors-for-neurocognitive-functioning-in-children-with-autosomal-recessive-polycystic-kidney-disease
#11
REVIEW
Stephen R Hooper
This mini review provides an overview of the issues and challenges inherent in autosomal recessive polycystic kidney disease (ARPKD), with a particular focus on the neurological factors and neurocognitive functioning of this population. ARPKD typically is discovered at the end of pregnancy or during the neonatal developmental period and occurs in approximately 1 in 20,000 live births. During the neonatal period, there is a relatively high risk of death, with many infants dying from respiratory failure. As the child ages, they experience progressive kidney disease and become increasingly vulnerable to liver disease, with many individuals eventually requiring dual organ transplants...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28530676/mutations-in-dzip1l-which-encodes-a-ciliary-transition-zone-protein-cause-autosomal-recessive-polycystic-kidney-disease
#12
Hao Lu, Maria C Rondón Galeano, Elisabeth Ott, Geraldine Kaeslin, P Jaya Kausalya, Carina Kramer, Nadina Ortiz-Brüchle, Nadescha Hilger, Vicki Metzis, Milan Hiersche, Shang Yew Tay, Robert Tunningley, Shubha Vij, Andrew D Courtney, Belinda Whittle, Elke Wühl, Udo Vester, Björn Hartleben, Steffen Neuber, Valeska Frank, Melissa H Little, Daniel Epting, Peter Papathanasiou, Andrew C Perkins, Graham D Wright, Walter Hunziker, Heon Yung Gee, Edgar A Otto, Klaus Zerres, Friedhelm Hildebrandt, Sudipto Roy, Carol Wicking, Carsten Bergmann
Autosomal recessive polycystic kidney disease (ARPKD), usually considered to be a genetically homogeneous disease caused by mutations in PKHD1, has been associated with ciliary dysfunction. Here, we describe mutations in DZIP1L, which encodes DAZ interacting protein 1-like, in patients with ARPKD. We further validated these findings through loss-of-function studies in mice and zebrafish. DZIP1L localizes to centrioles and to the distal ends of basal bodies, and interacts with septin2, a protein implicated in maintenance of the periciliary diffusion barrier at the ciliary transition zone...
July 2017: Nature Genetics
https://www.readbyqxmd.com/read/28473971/design-and-implementation-of-the-hepatorenal-fibrocystic-disease-core-center-clinical-database-a-centralized-resource-for-characterizing-autosomal-recessive-polycystic-kidney-disease-and-other-hepatorenal-fibrocystic-diseases
#13
Bakri Alzarka, Hiroki Morizono, John W Bollman, Dongkyu Kim, Lisa M Guay-Woodford
Autosomal recessive polycystic kidney disease (ARPKD) and other hepatorenal fibrocystic diseases (HRFD) are relatively rare recessive disorders that constitute an important set of childhood nephropathies. Little is known about fundamental pathogenesis, and advances toward clinical trials will require well-characterized patient cohorts and the development of predictive and prognostic biomarkers. Such studies in rare diseases require greater collaboration than the efforts in common diseases where large patient repositories can be built at a single site...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28473970/emerging-therapies-for-childhood-polycystic-kidney-disease
#14
REVIEW
William E Sweeney, Ellis D Avner
Cystic kidney diseases comprise a varied collection of hereditary disorders, where renal cysts comprise a major element of their pleiotropic phenotype. In pediatric patients, the term polycystic kidney disease (PKD) commonly refers to two specific hereditary diseases, autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD). Remarkable progress has been made in understanding the complex molecular and cellular mechanisms of renal cyst formation in ARPKD and ADPKD...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28455745/expanding-the-role-of-vasopressin-antagonism-in-polycystic-kidney-diseases-from-adults-to-children
#15
Peter Janssens, Caroline Weydert, Stephanie De Rechter, Karl Martin Wissing, Max Christoph Liebau, Djalila Mekahli
Polycystic kidney disease (PKD) encompasses a group of genetic disorders that are common causes of renal failure. The two classic forms of PKD are autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD). Despite their clinical differences, ARPKD and ADPKD share many similarities. Altered intracellular Ca(2+) and increased cyclic adenosine monophosphate (cAMP) concentrations have repetitively been described as central anomalies that may alter signaling pathways leading to cyst formation...
April 28, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28364132/challenges-in-establishing-genotype-phenotype-correlations-in-arpkd-case-report-on-a-toddler-with-two-severe-pkhd1-mutations
#16
Kathrin Ebner, Claudia Dafinger, Nadina Ortiz-Bruechle, Friederike Koerber, Bernhard Schermer, Thomas Benzing, Jörg Dötsch, Klaus Zerres, Lutz Thorsten Weber, Bodo B Beck, Max Christoph Liebau
BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) constitutes an important cause of pediatric end stage renal disease and is characterized by a broad phenotypic variability. The disease is caused by mutations in a single gene, Polycystic Kidney and Hepatic Disease 1 (PKHD1), which encodes a large transmembrane protein of poorly understood function called fibrocystin. Based on current knowledge of genotype-phenotype correlations in ARPKD, two truncating mutations are considered to result in a severe phenotype with peri- or neonatal mortality...
July 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28296980/recent-progress-of-the-aregpkd-registry-study-on-autosomal-recessive-polycystic-kidney-disease
#17
Kathrin Ebner, Franz Schaefer, Max Christoph Liebau
Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disease with a severe phenotype often presenting prenatally or in early childhood. With its obligate renal and hepatic involvement, ARPKD is one of the most important indications for liver and/or kidney transplantation in childhood. Marked phenotypic variability is observed, the genetic basis of which is largely unknown. Treatment is symptomatic and largely empiric as evidence-based guidelines are lacking. Therapeutic initiatives for ARPKD face the problem of highly variable cohorts and lack of clinical or biochemical risk markers without clear-cut clinical end points...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28283827/prenatal-ultrasound-genotype-and-outcome-in-a-large-cohort-of-prenatally-affected-patients-with-autosomal-recessive-polycystic-kidney-disease-and-other-hereditary-cystic-kidney-diseases
#18
Florian Erger, Nadina Ortiz Brüchle, Ulrich Gembruch, Klaus Zerres
PURPOSE: To investigate the sonographic and clinical genotype-phenotype correlations in autosomal recessive polycystic kidney disease (ARPKD) and other cystic kidney diseases (CKD) in a large cohort of prenatally detected fetuses with hereditary CKD. METHODS: We retrospectively studied the clinical and diagnostic data of 398 patients referred with prenatal ultrasound findings suggestive of CKD between 1994 and 2010. Cases with confirmed hereditary CKD (n = 130) were analyzed as to their prenatal ultrasound findings, genotype, and possible predictors of clinical outcome...
April 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28205363/health-related-quality-of-life-after-combined-liver-and-kidney-transplantation-in-children
#19
Kaja Schmaeschke, Susanne Lezius, Enke Grabhorn, Markus J Kemper, Florian Brinkert
While reduced HRQOL following isolated organ transplantation has been previously reported, there are no data in the context of children following CLKT. Twenty-three children who underwent CLKT at our institution were included in the study. The indication for CLKT was PH1 in 13 patients and ARPKD in 10 patients. Quantification of HRQOL was facilitated through the use of the PedsQL 4.0 Generic Core Scale. The results of the study were compared to healthy children and published data of children who had undergone LTx or KTx...
June 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/27891514/evidence-for-a-pathogenic-triumvirate-in-congenital-hepatic-fibrosis-in-autosomal-recessive-polycystic-kidney-disease
#20
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
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