Relevant bibliographies by topics / Autosomal Recessive Polycystic Kidney Disease ASH

Academic literature on the topic 'Autosomal Recessive Polycystic Kidney Disease ASH'

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Published: 9 March 2023
Last updated: 10 March 2023

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Journal articles on the topic "Autosomal Recessive Polycystic Kidney Disease ASH"

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Zaika, Oleg, Mykola Mamenko, Jonathan Berrout, Nabila Boukelmoune, Roger G. O'Neil, and Oleh Pochynyuk. "TRPV4 Dysfunction Promotes Renal Cystogenesis in Autosomal Recessive Polycystic Kidney Disease." Journal of the American Society of Nephrology 24, no. 4 (February 14, 2013): 604–16. http://dx.doi.org/10.1681/asn.2012050442.

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Rossetti, Sandro, and Peter C. Harris. "Genotype–Phenotype Correlations in Autosomal Dominant and Autosomal Recessive Polycystic Kidney Disease: Figure 1." Journal of the American Society of Nephrology 18, no. 5 (April 11, 2007): 1374–80. http://dx.doi.org/10.1681/asn.2007010125.

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Tan, Adrian Y., Tuo Zhang, Alber Michaeel, Jon Blumenfeld, Genyan Liu, Wanying Zhang, Zhengmao Zhang, et al. "Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease." Journal of the American Society of Nephrology 29, no. 8 (July 24, 2018): 2139–56. http://dx.doi.org/10.1681/asn.2017080878.

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BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is a ciliopathy caused by mutations in PKD1 and PKD2 that is characterized by renal tubular epithelial cell proliferation and progressive CKD. Although the molecular mechanisms involved in cystogenesis are not established, concurrent inactivating constitutional and somatic mutations in ADPKD genes in cyst epithelium have been proposed as a cellular recessive mechanism.MethodsWe characterized, by whole-exome sequencing (WES) and long-range PCR techniques, the somatic mutations in PKD1 and PKD2 genes in renal epithelial cells from 83 kidney cysts obtained from nine patients with ADPKD, for whom a constitutional mutation in PKD1 or PKD2 was identified.ResultsComplete sequencing data by long-range PCR and WES was available for 63 and 65 cysts, respectively. Private somatic mutations of PKD1 or PKD2 were identified in all patients and in 90% of the cysts analyzed; 90% of these mutations were truncating, splice site, or in-frame variations predicted to be pathogenic mutations. No trans-heterozygous mutations of PKD1 or PKD2 genes were identified. Copy number changes of PKD1 ranging from 151 bp to 28 kb were observed in 12% of the cysts. WES also identified significant mutations in 53 non-PKD1/2 genes, including other ciliopathy genes and cancer-related genes.ConclusionsThese findings support a cellular recessive mechanism for cyst formation in ADPKD caused primarily by inactivating constitutional and somatic mutations of PKD1 or PKD2 in kidney cyst epithelium. The potential interactions of these genes with other ciliopathy- and cancer-related genes to influence ADPKD severity merits further evaluation.
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Olson, Rory J., Katharina Hopp, Harrison Wells, Jessica M. Smith, Jessica Furtado, Megan M. Constans, Diana L. Escobar, Aron M. Geurts, Vicente E. Torres, and Peter C. Harris. "Synergistic Genetic Interactions between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models." Journal of the American Society of Nephrology 30, no. 11 (August 19, 2019): 2113–27. http://dx.doi.org/10.1681/asn.2019020150.

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BackgroundAutosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) are genetically distinct, with ADPKD usually caused by the genes PKD1 or PKD2 (encoding polycystin-1 and polycystin-2, respectively) and ARPKD caused by PKHD1 (encoding fibrocystin/polyductin [FPC]). Primary cilia have been considered central to PKD pathogenesis due to protein localization and common cystic phenotypes in syndromic ciliopathies, but their relevance is questioned in the simple PKDs. ARPKD’s mild phenotype in murine models versus in humans has hampered investigating its pathogenesis.MethodsTo study the interaction between Pkhd1 and Pkd1, including dosage effects on the phenotype, we generated digenic mouse and rat models and characterized and compared digenic, monogenic, and wild-type phenotypes.ResultsThe genetic interaction was synergistic in both species, with digenic animals exhibiting phenotypes of rapidly progressive PKD and early lethality resembling classic ARPKD. Genetic interaction between Pkhd1 and Pkd1 depended on dosage in the digenic murine models, with no significant enhancement of the monogenic phenotype until a threshold of reduced expression at the second locus was breached. Pkhd1 loss did not alter expression, maturation, or localization of the ADPKD polycystin proteins, with no interaction detected between the ARPKD FPC protein and polycystins. RNA-seq analysis in the digenic and monogenic mouse models highlighted the ciliary compartment as a common dysregulated target, with enhanced ciliary expression and length changes in the digenic models.ConclusionsThese data indicate that FPC and the polycystins work independently, with separate disease-causing thresholds; however, a combined protein threshold triggers the synergistic, cystogenic response because of enhanced dysregulation of primary cilia. These insights into pathogenesis highlight possible common therapeutic targets.
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Rohatgi, R. "Na Transport in Autosomal Recessive Polycystic Kidney Disease (ARPKD) Cyst Lining Epithelial Cells." Journal of the American Society of Nephrology 14, no. 4 (April 1, 2003): 827–36. http://dx.doi.org/10.1097/01.asn.0000056481.66379.b2.

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Bergmann, C. "Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)." Journal of the American Society of Nephrology 14, no. 1 (January 1, 2003): 76–89. http://dx.doi.org/10.1097/01.asn.0000039578.55705.6e.

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Zhang, Zhengmao, Hanwen Bai, Jon Blumenfeld, Andrew B. Ramnauth, Irina Barash, Martin Prince, Adrian Y. Tan, et al. "Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing." Journal of the American Society of Nephrology 32, no. 12 (October 29, 2021): 3114–29. http://dx.doi.org/10.1681/asn.2021050690.

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BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the development of multiple cysts in the kidneys. It is often caused by pathogenic mutations in PKD1 and PKD2 genes that encode polycystin proteins. Although the molecular mechanisms for cystogenesis are not established, concurrent inactivating germline and somatic mutations in PKD1 and PKD2 have been previously observed in renal tubular epithelium (RTE).MethodsTo further investigate the cellular recessive mechanism of cystogenesis in RTE, we conducted whole-genome DNA sequencing analysis to identify germline variants and somatic alterations in RTE of 90 unique kidney cysts obtained during nephrectomy from 24 unrelated participants.ResultsKidney cysts were overall genomically stable, with low burdens of somatic short mutations or large-scale structural alterations. Pathogenic somatic “second hit” alterations disrupting PKD1 or PKD2 were identified in 93% of the cysts. Of these, 77% of cysts acquired short mutations in PKD1 or PKD2; specifically, 60% resulted in protein truncations (nonsense, frameshift, or splice site) and 17% caused non-truncating mutations (missense, in-frame insertions, or deletions). Another 18% of cysts acquired somatic chromosomal loss of heterozygosity (LOH) events encompassing PKD1 or PKD2 ranging from 2.6 to 81.3 Mb. 14% of these cysts harbored copy number neutral LOH events, while the other 3% had hemizygous chromosomal deletions. LOH events frequently occurred at chromosomal fragile sites, or in regions comprising chromosome microdeletion diseases/syndromes. Almost all somatic “second hit” alterations occurred at the same germline mutated PKD1/2 gene.ConclusionsThese findings further support a cellular recessive mechanism for cystogenesis in ADPKD primarily caused by inactivating germline and somatic variants of PKD1 or PKD2 genes in kidney cyst epithelium.
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Wang, S. "The Autosomal Recessive Polycystic Kidney Disease Protein Is Localized to Primary Cilia, with Concentration in the Basal Body Area." Journal of the American Society of Nephrology 15, no. 3 (March 1, 2004): 592–602. http://dx.doi.org/10.1097/01.asn.0000113793.12558.1d.

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Fon Gabršček, Anja, and Rina Rus. "AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE." Slovenska pediatrija, revija pediatrov Slovenije in specialistov šolske ter visokošolske medicine Slovenije 29, no. 1 (2022): 17–21. http://dx.doi.org/10.38031/slovpediatr-2022-1-03en.

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Parfrey, Patrick S. "Autosomal-recessive polycystic kidney disease." Kidney International 67, no. 4 (April 2005): 1638–48. http://dx.doi.org/10.1111/j.1523-1755.2005.00246.x.

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Dissertations / Theses on the topic "Autosomal Recessive Polycystic Kidney Disease ASH"

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Chiu, Miliyun. "Galectin-3 and the development of autosomal recessive polycystic kidney disease." Thesis, University College London (University of London), 2007. http://discovery.ucl.ac.uk/1445364/.

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Galectin-3 is a β-galactoside-binding lectin implicated in renal collecting duct development and differentiation. Autosomal recessive polycystic kidney disease (ARPKD) affects 1 in 20,000 humans, and is characterised by cyst development from collecting ducts. Galectin-3 retards cystogenesis in at least 2 in vitro models. Hence, I hypothesised that endogenous galectin-3 may reduce cyst formation in vivo, and investigated this in the congenital polycystic kidney mouse (cpk), a well-characterised ARPKD model. Widespread galectin-3 expression was detected in cpk cyst epithelia in a distinct distribution compared to other developmental markers and renal galectins, and also in other cystic mice and human PKD, raising the possibility that galectin-3 may be a common part of a 'cystogenic' pathway. Next, I investigated whether reduced galectin-3 accelerated cyst formation in vivo using cpk and galectin-3 mutants to generate double cpk/galectin-3 mutants. Initial results on a mixed genetic background demonstrated large variability, but still significantly increased cysts in mice lacking galectin-3. I then backcrossed onto a pure 129Sv background but offspring developed unexpected increased mortality and pancreatic cysts, which confounded this experiment. Hence, we imported different galectin-3 mutants to reassess on the C57BL/6j background: cyst formation was less rapid than mixed/129Sv, but significantly more cortical cysts were again observed in galectin-3 null mutants. I detected galectin-3 in the primary cilium and centrosomes both in vivo and in vitro in normal and cystic samples for the first time. At least some of the galectin-3 appears on the outside of the cilia and paclitaxel, a therapy that retards PKD in cpk mice, caused increased extracellular galectin-3, a location where the lectin might interact with cilia. Preliminary experiments were also performed to investigate ciliary function using atomic force microscopy. These data raise the possibility that galectin-3 may act as a 'natural' brake on cystogenesis in cpk mice, perhaps via ciliary roles.
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Ryan, Sean P. "Autosomal Recessive Polycystic Kidney Disease Epithelial Cell Model Reveals Multiple Basolateral EGF Receptor Sorting Pathways." Case Western Reserve University School of Graduate Studies / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1274887553.

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Olteanu, Dragos S. "Dysregulated ENAC and NHE function in cilium-deficient renal collecting duct cell monolayers a model of polycystic kidney disease /." Thesis, Birmingham, Ala. : University of Alabama at Birmingham, 2007. https://www.mhsl.uab.edu/dt/2009r/olteanu.pdf.

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Akarkach, Abdelaziz [Verfasser], Max Christoph [Gutachter] Liebau, and Hanns Henning [Gutachter] Hagmann. "Long-term peritoneal dialysis in children with autosomal recessive polycystic kidney disease : a comparative cohort study of the international pediatric peritoneal dialysis network registry / Abdelaziz Akarkach ; Gutachter: Max Christoph Liebau, Hanns Henning Hagmann." Köln : Deutsche Zentralbibliothek für Medizin, 2021. http://d-nb.info/1240617100/34.

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LOCATELLI, LUIGI. "Expression of aVB6 integrin by Pkhd1-defective cholangiocytes links enhanced ductal secretion of Macrophage chemokines to progressive portal fibrosis in Congenital Hepatic Fibrosis." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2013. http://hdl.handle.net/10281/41733.

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BACKGROUND AND AIMS: Congenital Hepatic Fibrosis (CHF) is caused by mutations in PKHD1, a gene encoding for fibrocystin, a protein of unknown function, expressed in cholangiocyte cilia and centromers. In CHF, biliary dysgenesis is accompanied by severe progressive portal fibrosis and portal hypertension. The mechanisms responsible for portal fibrosis in CHF are unclear. The αvβ6 integrin mediates local activation of TGFβ1 and is expressed by reactive cholangiocytes during cholestasis. To understand the mechanisms of fibrosis in CHF we studied the expression of αvβ6 integrin and its regulation in Pkhd1del4/del4 mice. METHODS: In Pkhd1del4/del4 mice we studied, at different ages (1-12 months): a) portal fibrosis (Sirius Red) and portal hypertension (spleen weight/body weight); b) αvβ6 mRNA and protein expression (RT-PCR, IHC); c) α-SMA and TGFβ1 mRNA expression (RT-PCR); d) portal inflammatory infiltrate (IHC for CD45 and FACS analysis of whole liver infiltrate); f) cytokines secretion from cultured monolayers of primary cholangiocytes (Luminex assay); g) cytokine effects on monocyte/macrophage proliferation (MTS assay) and migration (Boyden chamber); h) TGFβ1 and TNFα effects on β6 integrin mRNA expression by cultured cholangiocytes before and after inhibition of the TGFβ receptor type II (TGFβRII); i) TGFβ1 effects on collagen type I (COLL1) mRNA expression by cultured cholangiocytes. RESULTS: Pkhd1del4/del4 mice showed a progressive increase in αvβ6 integrin expression on biliary cyst epithelia. Expression of αvβ6 correlated with portal fibrosis (r=0.94, p<0.02) and with enrichment of a CD45+ve cell infiltrate in the portal space (r=0.97, p<0.01). Gene expression of TGFβ1 showed a similar age-dependent increase. FACS analysis showed that 50-75% of the CD45+ve cells were macrophages (CD45/CD11b/F4/80+ve). Cultured polarized Pkhd1del4/del4 cholangiocytes secreted from the basolateral side significantly increased amounts of CXCL1 and CXCL10 (p<0.05). Both cytokines were able to stimulate macrophage migration (p<0.05). Basal expression of β6 mRNA by cultured Pkhd1del4/del4 cholangiocytes (0.015±0.002 2^-dCt) was potently stimulated by the macrophage-derived cytokines TGFβ1 (0.017±0.002 2^-dCt, p<0.05) and TNFα (0.018±0.003 2^-dCt, p<0.05). Inhibition of TGFβRII completely blunted TGFβ1 (0.014±0.003 2^-dCt, p<0.05) but not TNFα effects (0.017±0.001 2^-dCt, p=ns) on β6 mRNA. COLL1 mRNA expression by cultured Pkhd1del4/del4 cholangiocytes (0.0009±0.0003 2^-dCt) was further and significantly increased after TGFβ1 stimulation (0.002±0.0005 2^-dCt, p<0.05). CONCLUSIONS: Pkhd1del4/del4 cholangiocytes possess increased basolateral secretory functions of chemokines (CXCL1, CXCL10) able to orchestrate macrophage homing to the peribiliary microenvironment. In turn, by releasing TGFβ1 and TNFα, macrophages up-regulate αvβ6 integrin in Pkhd1del4/del4 cholangiocytes. αvβ6 integrin activates latent TGFβ1, further increasing the fibrogenic properties of cholangiocytes.
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Lambie, Lindsay Ann. "Clinical and molecular characterisation of autosomal recessive polycystic kidney disease (ARPKD) in Afrikaans families." Thesis, 2010. http://hdl.handle.net/10539/8541.

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MSc (Med)(Genetic Counselling), Faculty of Health Sciences, University of the Witwatersrand
Autosomal recessive polycystic kidney disease (ARPKD; MIM263200) is a severe recessively inherited disease of the kidneys and biliary tract, with an incidence of approximately 1 in 20000 in non-isolated populations. It has a variable clinical spectrum from neonatal demise (in 30-50%) to survival into adulthood. ARPKD is caused by mutations at a single locus, polycystic kidney and hepatic disease 1 (PKHD1), with over 270 pathogenic mutations described to date. The high rate of compound heterozygosity in affected individuals has made genotype-phenotype correlations difficult. A common missense mutation, p.M627K, in exon 20 of PKHD1 was identified previously on the majority of ARPKD disease associated alleles in the Afrikaans population of South Africa suggesting the presence of a founder effect. The aim of this study was to describe the clinical phenotype of ARPKD in Afrikaans speaking individuals found to be homozygous for the common mutation, and to compare this phenotype to previously described cohorts of patients with ARPKD, known to harbour a spectrum of mutations. This descriptive study used retrospective data collected from records of patients with ARPKD at Johannesburg and Pretoria Academic Hospitals. Twenty seven individuals from 24 families were included in the study. Marked clinical variability was demonstrated within this subject group supporting the limitation of genotype-phenotype correlation described worldwide. ARPKD was diagnosed at a median age of 27 days, older than a North American cohort (NAC) born after 1990 (median age of 1 day). The majority (93%) of subjects in this study were diagnosed with chronic renal v insufficiency (CRI) and hypertension (HT), indicating the renal morbidities to be more common than noted in previous studies, but occurring at a later median age (1.4 years vs 13.5 days in the NAC). This may indicate a trend toward milder expression of renal morbidities in the present study. Portal hypertension was also diagnosed more frequently (81%) than in previous studies but at a younger median age (1.3 years vs 2.8 years), although with similar complication rates. Overall statistical correlation was found between the renal and hepatic related morbidities in this study, indicating that progression of the condition is not organ specific. A survival rate of 89% at one year is comparable to previous studies with similar patient ascertainment. This cohort represents the largest series of patients affected by ARPKD with a common mutation, described to date. The findings will provide for more accurate, specific and informative genetic counselling in families with ARPKD and may present a resource for future studies of modifier genes and environmental influences on the phenotypic expression of ARPKD.
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Frost, Toby. "Narrowing of the autosomal recessive polycystic kidney disease critical region in a Newfoundland family /." 2000.

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Kavec, Miriam. "Sekvenční varianty genu HNF1B u autozomálně recesivní polycystické choroby ledvin." Master's thesis, 2017. http://www.nusl.cz/ntk/nusl-368057.

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Autosomal recessive polycystic kidney disease (ARPKD) is a rare severe inherited disease manifested by cystic renal disease, congenital hepatic fibrosis and dilatatation of bile ducts. The spectrum of clinical manifestations is very wide and variable, depends on the age at which the disease was manifested. In severe forms of the disease, it is possible to detect the first symptoms prenatally around the 20th week of pregnancy due to increased echogenic kidneys and the presence of oligohydramnios. The causal gene of this disease is thePKHD1 gene with protein product fibrocystin that is most likely contributing on maintaining the intracellular concentration of Ca2+ cations. The exact phatophysiology mechanism of ARPKD remains unknown. Phenotypic manifestations of this disease may overlap with mutations associated with other genes. One of the genes mimicking the ARPKD phenotype is the HNF1B gene. Mutations associated with HNF1B gene are the most common monogenic cause of developmental kidney abnormalities. HNF1B is a tissue-specific transcription factor that regulates the expression of PKHD1. In experimental part I worked on genetic analysis of the HNF1B gene in 28 patients who have not been confirmed ARPKD diagnosis by detection of 2 PKHD1 mutations. For the purposes of mutational screening, I used...
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Books on the topic "Autosomal Recessive Polycystic Kidney Disease ASH"

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Bergmann, Carsten, and Klaus Zerres. Autosomal recessive polycystic kidney disease. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0313.

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Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality with variable disease expression. Many patients manifest peri- or neonatally with a mortality rate of 30–50%, whereas others survive to adulthood with only minor clinical features. ARPKD is typically caused by mutations in the PKHD1 gene that encodes a 4074-amino acid type 1 single-pass transmembrane protein called fibrocystin or polyductin. Fibrocystin/polyductin is among other cystoproteins expressed in primary cilia, basal bodies, and centrosomes, but its exact function has still not been fully unravelled. Mutations were found to be scattered throughout the gene with many of them being private to single families. Correlations have been drawn for the type of mutation rather than for the site of the individual mutation. Virtually all patients carrying two truncating mutations display a severe phenotype with peri- or neonatal demise while surviving patients bear at least one hypomorphic missense mutation. However, about 20–30% of all sibships exhibit major intrafamilial phenotypic variability and it becomes increasingly obvious that ARPKD is clinically and genetically much more heterogeneous and complex than previously thought.
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Foggensteiner, Lukas, and Philip Beales. Bardet–Biedl syndrome and other ciliopathies. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0314.

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Ciliopathies encompass a genotypically complex and phenotypically variable and overlapping series of disorders that makes the general term ‘ciliopathies’ very useful. The genes behind these conditions encode parts of the machinery of the primary cilium. This is also true of the major cystic kidney disorders autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease, but the ‘long tails’ of other ciliopathies are characterized by variable nephropathy (often without cyst formation), retinopathy, and effects on brain and skeletal development. Not all have substantial renal phenotypes. Bardet–Biedl syndrome (BBS) is an autosomal dominant condition characterized by obesity, retinopathy, nephropathy, and learning difficulty, but renal abnormalities are varied and end-stage renal failure occurs in only a minority. Many BBS genes have been described. Alström syndrome is a rare recessive disorder again associated with obesity and retinopathy, but also deafness and dilated cardiomyopathy. Renal failure is a common but later feature. Joubert syndrome is an autosomal dominant condition but can arise from mutations in at least 10 genes. It has a wide phenotypic variation with a common link being hypodysplasia of the cerebellar vermis and other abnormalities giving rise to the ‘molar tooth sign’ on cerebral magnetic resonance imaging scanning, associated with hypotonia in infancy, central ataxia, ocular apraxia, developmental delay, and varying degrees of cognitive impairment. Jeune syndrome is a recessive condition characterized by osteochondrodysplasia which can give rise to hypodevelopment of the chest wall known as suffocating thoracic dystrophy, in addition to other manifestations.
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Bergmann, Carsten, Nadina Ortiz-Brüchle, Valeska Frank, and Klaus Zerres. The child with renal cysts. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0305.

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Renal cysts of different aetiology are a common diagnosis in paediatric nephrology. The classification is usually based on the clinical picture, morphology, and family history. In syndromic forms, additional features have to be evaluated. Most common are cystic dysplastic kidneys with a broad phenotypic spectrum ranging from asymptomatic clinical courses in unilateral cases to severe, lethal manifestations in patients with considerable bilateral involvement. Simple cysts are rare. Polycystic kidneys are usually subdivided according to the mode of inheritance into autosomal recessive and autosomal dominant polycystic kidney disease. The most useful investigation in order to distinguish between these two types is the family history with parental ultrasound and demonstration of polycystic kidneys in one parent in the majority of cases with dominant polycystic kidney disease. Finally, cystic kidneys are associated with a variety of hereditary, usually recessive syndromes affecting cilia.
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Book chapters on the topic "Autosomal Recessive Polycystic Kidney Disease ASH"

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Cole, B. R. "Autosomal Recessive Polycystic Kidney Disease." In The Cystic Kidney, 327–50. Dordrecht: Springer Netherlands, 1990. http://dx.doi.org/10.1007/978-94-009-0457-6_13.

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Zerres, K., J. Becker, G. M�cher, and S. Rudnik-Sch�neborn. "Autosomal Recessive Polycystic Kidney Disease." In Hereditary Kidney Diseases, 10–16. Basel: KARGER, 1997. http://dx.doi.org/10.1159/000059883.

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Smith, Jodi M., and Ruth A. McDonald. "Autosomal Recessive Polycystic Kidney Disease." In Fibrocystic Diseases of the Liver, 319–30. Totowa, NJ: Humana Press, 2010. http://dx.doi.org/10.1007/978-1-60327-524-8_13.

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Kaplan, Bernard S., and Paige Kaplan. "Autosomal Recessive Polycystic Kidney Disease." In Inheritance of Kidney and Urinary Tract Diseases, 265–76. Boston, MA: Springer US, 1990. http://dx.doi.org/10.1007/978-1-4613-1603-9_13.

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Sessa, A., M. Meroni, M. Righetti, G. Battini, A. Maglio, and S. L. Puricelli. "Autosomal Recessive Polycystic Kidney Disease." In Contributions to Nephrology, 50–56. Basel: KARGER, 2001. http://dx.doi.org/10.1159/000060211.

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Liebau, Max C., and Lisa M. Guay-Woodford. "Autosomal Recessive Polycystic Kidney Disease." In Pediatric Nephrology, 1197–212. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-52719-8_117.

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Liebau, Max C., and Lisa M. Guay-Woodford. "Autosomal Recessive Polycystic Kidney Disease." In Pediatric Nephrology, 1–16. Berlin, Heidelberg: Springer Berlin Heidelberg, 2021. http://dx.doi.org/10.1007/978-3-642-27843-3_117-2.

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Scharnagl, Hubert, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, et al. "Autosomal Recessive Polycystic Kidney Disease." In Encyclopedia of Molecular Mechanisms of Disease, 197. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6594.

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Elzouki, Abdelaziz Y., and Laurel Steinmetz. "Autosomal Dominant Polycystic Kidney Disease/Autosomal Recessive Polycystic Kidney Disease." In Textbook of Clinical Pediatrics, 2815–20. Berlin, Heidelberg: Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-642-02202-9_303.

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Caliò, Anna, Diego Segala, and Guido Martignoni. "Autosomal-Recessive (Infantile) Polycystic Kidney Disease." In Encyclopedia of Pathology, 1–2. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-28845-1_4784-1.

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Conference papers on the topic "Autosomal Recessive Polycystic Kidney Disease ASH"

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Root, Heather B., Meral Gunay-Aygun, and Kenneth N. Olivier. "Screening For Respiratory Ciliary Dysfunction In Autosomal Recessive Polycystic Kidney Disease." In American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado. American Thoracic Society, 2011. http://dx.doi.org/10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a6346.

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