Database : MEDLINE
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[PMID]: 25907884
[Au] Autor:Lorenzo AJ; Noone D
[Ad] Address:Toronto, ON, Canada.
[Ti] Title:Renal cystic disease and liver abnormalities: polycystic kidney and hepatic disease and the association with Caroli disease.
[So] Source:J Am Coll Surg;220(5):976-7, 2015 May.
[Is] ISSN:1879-1190
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Choledochal Cyst/diagnosis
Choledochal Cyst/surgery
[Mh] MeSH terms secundary: Female
Humans
[Pt] Publication type:COMMENT; LETTER
[Em] Entry month:1506
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:150424
[St] Status:MEDLINE

  2 / 1231 MEDLINE  
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[PMID]: 25853187
[Au] Autor:Perricone G
[Ad] Address:Niguarda Ca' Granda Hospital, Milan, Italy.
[Ti] Title:Image of the month: Caroli syndrome: central dot sign on CT.
[So] Source:Am J Gastroenterol;110(4):497, 2015 Apr.
[Is] ISSN:1572-0241
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Bile Ducts, Intrahepatic/pathology
Bile Ducts, Intrahepatic/radiography
Caroli Disease/radiography
Tomography, X-Ray Computed
[Mh] MeSH terms secundary: Contrast Media/diagnostic use
Dilatation, Pathologic/radiography
Humans
Tomography, X-Ray Computed/methods
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Contrast Media)
[Em] Entry month:1506
[Js] Journal subset:IM
[Da] Date of entry for processing:150409
[St] Status:MEDLINE
[do] DOI:10.1038/ajg.2014.253

  3 / 1231 MEDLINE  
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[PMID]: 25568301
[Au] Autor:Caroli A; Prestia A; Galluzzi S; Ferrari C; van der Flier WM; Ossenkoppele R; Van Berckel B; Barkhof F; Teunissen C; Wall AE; Carter SF; Schöll M; Choo IH; Grimmer T; Redolfi A; Nordberg A; Scheltens P; Drzezga A; Frisoni GB; Alzheimer's Disease Neuroimaging Initiative
[Ad] Address:From the Medical Imaging Unit (A.C.), Biomedical Engineering Department, IRCCS Istituto di Ricerche Farmacologiche Mario Negri, Bergamo; LENITEM-Laboratory of Epidemiology Neuroimaging and Telemedicine (A.P., S.G., C.F., A.R., G.B.F.), IRCCS Centro San Giovanni di Dio Fatebenefratelli, Brescia, Ital...
[Ti] Title:Mild cognitive impairment with suspected nonamyloid pathology (SNAP): Prediction of progression.
[So] Source:Neurology;84(5):508-15, 2015 Feb 3.
[Is] ISSN:1526-632X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVES: The aim of this study was to investigate predictors of progressive cognitive deterioration in patients with suspected non-Alzheimer disease pathology (SNAP) and mild cognitive impairment (MCI). METHODS: We measured markers of amyloid pathology (CSF ß-amyloid 42) and neurodegeneration (hippocampal volume on MRI and cortical metabolism on [(18)F]-fluorodeoxyglucose-PET) in 201 patients with MCI clinically followed for up to 6 years to detect progressive cognitive deterioration. We categorized patients with MCI as A+/A- and N+/N- based on presence/absence of amyloid pathology and neurodegeneration. SNAPs were A-N+ cases. RESULTS: The proportion of progressors was 11% (8/41), 34% (14/41), 56% (19/34), and 71% (60/85) in A-N-, A+N-, SNAP, and A+N+, respectively; the proportion of APOE ε4 carriers was 29%, 70%, 31%, and 71%, respectively, with the SNAP group featuring a significantly different proportion than both A+N- and A+N+ groups (p ≤ 0.005). Hypometabolism in SNAP patients was comparable to A+N+ patients (p = 0.154), while hippocampal atrophy was more severe in SNAP patients (p = 0.002). Compared with A-N-, SNAP and A+N+ patients had significant risk of progressive cognitive deterioration (hazard ratio = 2.7 and 3.8, p = 0.016 and p < 0.001), while A+N- patients did not (hazard ratio = 1.13, p = 0.771). In A+N- and A+N+ groups, none of the biomarkers predicted time to progression. In the SNAP group, lower time to progression was correlated with greater hypometabolism (r = 0.42, p = 0.073). CONCLUSIONS: Our findings support the notion that patients with SNAP MCI feature a specific risk progression profile.
[Mh] MeSH terms primary: Disease Progression
Mild Cognitive Impairment/diagnosis
Neurodegenerative Diseases/diagnosis
Plaque, Amyloid
[Mh] MeSH terms secundary: Aged
Aged, 80 and over
Databases, Factual/trends
Female
Follow-Up Studies
Humans
Male
Middle Aged
Mild Cognitive Impairment/psychology
Neurodegenerative Diseases/psychology
Predictive Value of Tests
[Pt] Publication type:JOURNAL ARTICLE; MULTICENTER STUDY; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S.
[Em] Entry month:1506
[Cu] Class update date: 150407
[Lr] Last revision date:150407
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:150203
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000001209

  4 / 1231 MEDLINE  
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[PMID]: 25884923
[Au] Autor:Ballotari P; Caroli S; Ferrari F; Romani G; Marina G; Chiarenza A; Manicardi V; Giorgi Rossi P
[Ad] Address:Servizio Interaziendale di Epidemiologia, Local Health Authority, Via Amendola 2, Reggio Emilia, Italy. paola.ballotari@ausl.re.it....
[Ti] Title:Differences in diabetes prevalence and inequalities in disease management and glycaemic control by immigrant status: a population-based study (Italy).
[So] Source:BMC Public Health;15:87, 2015.
[Is] ISSN:1471-2458
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: The diabetes prevalence increases at an alarming rate around the world and understanding disparities in occurrence, care management, and health outcomes may be a starting point towards achieving more effective strategies to prevent and manage it. The aims of this study are to compare immigrants and Italians in terms of the differences in diabetes prevalence and to evaluate inequalities in disease management and glycaemic control by using information included in Reggio Emilia diabetes register. METHODS: We retrieved from the diabetes register subjects aged 20-74 on December 31(st), 2009. Using citizenship, we created three main groups: Italy, High Developed Countries (HDC), and High Migration Pressure Countries (HMPC). These were split into sub-regions of origin. We calculated age-adjusted prevalence by gender and sub-region. Using logistic regression model, we analyzed the association between area of origin and following indicators: 1) not being in care of diabetes clinics; 2) not having glycated haemoglobin (HbA1c) test in 2010; 3) among those tested, having a HbA1c value > = 9% (75 mmol/mol). RESULTS: We found 15,889 Italian and 1,295 HMPC citizens with diabetes. HMPC citizens had higher age-adjusted prevalence of diabetes than Italians (females 5.0% vs 3.6%; males 6.5% vs 5.5%). The excess was mostly due to a strong excess in immigrants from Southern Asia (females 9.7%, males 10.2%) and Northern Africa (females 9.3%, males 5.9%). HMPC citizens were cared for by diabetes clinics in a similar proportion than Italians (OR: 1.08; 95% CI: 0.93-1.25), but had a greater odds of not being tested for HbA1c (OR: 1.51; 95% CI: 1.34-1.71), as well as of having HbA1c values equal to or over 9% (OR: 2.06; 95% CI: 1.80-3.14). The outcomes were poorer in HMPC females for the first two outcomes, while there was no difference for the HbA1c values (Wald test for heterogeneity p = 0.0850; p = 0.0156; p = 0.6635, respectively). CONCLUSIONS: Our findings highlight the need for gender-oriented actions for prevention and early diagnosis of the diabetes to contrast the higher risk in Northern Africans and Southern Asians. Further studies are required to determine whether the protocols in use are adequate for different immigrant groups.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1504
[Cu] Class update date: 150420
[Lr] Last revision date:150420
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1186/s12889-015-1403-4

  5 / 1231 MEDLINE  
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[PMID]: 25501066
[Au] Autor:Marzano AV; Ceccherini I; Gattorno M; Fanoni D; Caroli F; Rusmini M; Grossi A; De Simone C; Borghi OM; Meroni PL; Crosti C; Cugno M
[Ad] Address:From the Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti (AVM, DF, CC), Università degli Studi di Milano, Unità Operativa di Dermatologia, IRCCS Fondazione Ca' Granda, Ospedale Maggiore Policlinico, Milano; UOC Genetica Medica (IC, FC, MR, AG), Istituto Giannina Gaslini; Pediatria II (MG), Istituto Giannina Gaslini, Genova; Dipartimento di Dermatologia (CDS), Università Cattolica del Sacro Cuore, Roma; Dipartimento di Scienze Cliniche e di Comunità (OMB, PLM), Università degli Studi di Milano, Cattedra di Reumatologia, Istituto G. Pini, Milano; and Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti (MC), Università degli Studi di Milano, Unità Operativa di Medicina Interna, IRCCS Fondazione Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy.
[Ti] Title:Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases.
[So] Source:Medicine (Baltimore);93(27):e187, 2014 Dec.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) has recently been described and suggested to be a new entity within the spectrum of autoinflammatory syndromes, which are characterized by recurrent episodes of sterile inflammation, without circulating autoantibodies and autoreactive T-cells. We conducted an observational study on 5 patients with PASH syndrome, analyzing their clinical features, genetic profile of 10 genes already known to be involved in autoinflammatory diseases (AIDs), and cytokine expression pattern both in lesional skin and serum. In tissue skin samples, the expressions of interleukin (IL)-1ß and its receptors I and II were significantly higher in PASH (P = 0.028, 0.047, and 0.050, respectively) than in controls. In PASH patients, chemokines such as IL-8 (P = 0.004), C-X-C motif ligand (CXCL) 1/2/3 (P = 0.028), CXCL 16 (P = 0.008), and regulated on activation, normal T cell expressed and secreted (RANTES) (P = 0.005) were overexpressed. Fas/Fas ligand and cluster of differentiation (CD)40/CD40 ligand systems were also overexpressed (P = 0.016 for Fas, P = 0.006 for Fas ligand, P = 0.005 for CD40, and P = 0.004 for CD40 ligand), contributing to tissue damage and inflammation. In peripheral blood, serum levels of the main proinflammatory cytokines, that is, IL-1ß, tumor necrosis factor-α, and IL-17, were within the normal range, suggesting that in PASH syndrome, the inflammatory process is mainly localized into the skin. Four out of our 5 PASH patients presented genetic alterations typical of well-known AIDs, including inflammatory bowel diseases, and the only patient lacking genetic changes had clinically evident Crohn disease. In conclusion, overexpression of cytokines/chemokines and molecules amplifying the inflammatory network, along with the genetic changes, supports the view that PASH syndrome is autoinflammatory in origin.
[Mh] MeSH terms primary: Acne Vulgaris/complications
Autoimmune Diseases/genetics
Cytokines/blood
Hidradenitis Suppurativa/complications
Pyoderma Gangrenosum/complications
[Mh] MeSH terms secundary: Acne Vulgaris/blood
Acne Vulgaris/genetics
Adolescent
Adult
Antigens, CD40/metabolism
Antigens, CD95/metabolism
Autoimmune Diseases/blood
E-Selectin/metabolism
Female
Hidradenitis Suppurativa/blood
Hidradenitis Suppurativa/genetics
Humans
L-Selectin/metabolism
Male
Matrix Metalloproteinases/metabolism
Middle Aged
Pyoderma Gangrenosum/blood
Pyoderma Gangrenosum/genetics
Sialic Acid Binding Immunoglobulin-like Lectins/metabolism
Skin/metabolism
Tissue Inhibitor of Metalloproteinases/metabolism
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; OBSERVATIONAL STUDY; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Antigens, CD40); 0 (Antigens, CD95); 0 (Cytokines); 0 (E-Selectin); 0 (Sialic Acid Binding Immunoglobulin-like Lectins); 0 (Tissue Inhibitor of Metalloproteinases); 126880-86-2 (L-Selectin); EC 3.4.24.- (Matrix Metalloproteinases)
[Em] Entry month:1502
[Cu] Class update date: 150611
[Lr] Last revision date:150611
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:141216
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000000187

  6 / 1231 MEDLINE  
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[PMID]: 24710345
[Au] Autor:Hao X; Liu S; Dong Q; Zhang H; Zhao J; Su L
[Ad] Address:Pediatric Surgery, The Affiliated Hospital of Medical College, Qingdao University, Qingdao, China....
[Ti] Title:Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease.
[So] Source:PLoS One;9(4):e92661, 2014.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Mutations in PKHD1 cause autosomal recessive Caroli disease, which is a rare congenital disorder involving cystic dilatation of the intrahepatic bile ducts. However, the mutational spectrum of PKHD1 and the phenotype-genotype correlations have not yet been fully established. METHODS: Whole exome sequencing (WES) was performed on one twin sample with Caroli disease from a Chinese family from Shandong province. Routine Sanger sequencing was used to validate the WES and to carry out segregation studies. We also described the PKHD1 mutation associated with the genotype-phenotype of this twin. RESULTS: A combination of WES and Sanger sequencing revealed the genetic defect to be a novel compound heterozygous genotype in PKHD1, including the missense mutation c.2507 T>C, predicted to cause a valine to alanine substitution at codon 836 (c.2507T>C, p.Val836Ala), and the nonsense mutation c.2341C>T, which is predicted to result in an arginine to stop codon at codon 781 (c.2341C>T, p.Arg781*). This compound heterozygous genotype co-segregates with the Caroli disease-affected pedigree members, but is absent in 200 normal chromosomes. CONCLUSIONS: Our findings indicate exome sequencing can be useful in the diagnosis of Caroli disease patients and associate a compound heterozygous genotype in PKHD1 with Caroli disease, which further increases our understanding of the mutation spectrum of PKHD1 in association with Caroli disease.
[Mh] MeSH terms primary: Codon, Nonsense
Exome
Heterozygote
Mutation, Missense
Receptors, Cell Surface/genetics
Twins
[Mh] MeSH terms secundary: Amino Acid Substitution
Asian Continental Ancestry Group
Caroli Disease
Child
China
DNA Mutational Analysis
Family
Humans
Male
[Pt] Publication type:CLINICAL TRIAL; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; TWIN STUDY
[Nm] Name of substance:0 (Codon, Nonsense); 0 (PKHD1 protein, human); 0 (Receptors, Cell Surface)
[Em] Entry month:1506
[Js] Journal subset:IM
[Da] Date of entry for processing:140408
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0092661

  7 / 1231 MEDLINE  
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[PMID]: 26034365
[Au] Autor:Lai YH; Duan WD; Yu Q; Ye S; Xiao NJ; Zhang DX; Huang ZQ; Yang ZY; Dong JH
[Ad] Address:Yan-Hua Lai, Wei-Dong Duan, Qiang Yu, Sheng Ye, Nian-Jun Xiao, Dong-Xin Zhang, Zhi-Qiang Huang, Jia-Hong Dong, Hospital and Institute of Hepatobiliary Surgery, Chinese PLA General Hospital, Beijing 100853, China....
[Ti] Title:Outcomes of liver transplantation for end-stage biliary disease: A comparative study with end-stage liver disease.
[So] Source:World J Gastroenterol;21(20):6296-303, 2015 May 28.
[Is] ISSN:2219-2840
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:AIM: To evaluate the outcomes of patients with end-stage biliary disease (ESBD) who underwent liver transplantation, to define the concept of ESBD, the criteria for patient selection and the optimal operation for decision-making. METHODS: Between June 2002 and June 2014, 43 patients with ESBD from two Chinese organ transplantation centres were evaluated for liver transplantation. The causes of liver disease were primary biliary cirrhosis (n = 8), cholelithiasis (n = 8), congenital biliary atresia (n = 2), graft-related cholangiopathy (n = 18), Caroli's disease (n = 2), iatrogenic bile duct injury (n = 2), primary sclerosing cholangitis (n = 1), intrahepatic bile duct paucity (n = 1) and Alagille's syndrome (n = 1). The patients with ESBD were compared with an end-stage liver disease (ESLD) case control group during the same period, and the potential prognostic values of multiple demographic and clinical variables were assessed. The examined variables included recipient age, sex, pre-transplant clinical status, pre-transplant laboratory values, operation condition and postoperative complications, as well as patient and allograft survival rates. Survival analysis was performed using Kaplan-Meier curves, and the rates were compared using log-rank tests. All variables identified by univariate analysis with P values < 0.100 were subjected to multivariate analysis. A Cox proportional hazard regression model was used to determine the effect of the study variables on outcomes in the study group. RESULTS: Patients in the ESBD group had lower model for end-stage liver disease (MELD)/paediatric end-stage liver disease (PELD) scores and a higher frequency of previous abdominal surgery compared to patients in the ESLD group (19.2 ± 6.6 vs 22.0 ± 6.5, P = 0.023 and 1.8 ± 1.3 vs 0.1 ± 0.2, P = 0.000). Moreover, the operation time and the time spent in intensive care were significantly higher in the ESBD group than in the ESLD group (527.4 ± 98.8 vs 443.0 ± 101.0, P = 0.000, and 12.74 ± 6.6 vs 10.0 ± 7.5, P = 0.000). The patient survival rate in the ESBD group was not significantly different from that of the ESBD group at 1, 3 and 5 years (ESBD: 90.7%, 88.4%, 79.4% vs ESLD: 84.9%, 80.92%, 79.0%, χ(2) = 0.194, P = 0.660). The graft-survival rates were also similar between the two groups at 1, 3 and 5 years (ESBD: 90.7%, 85.2%, 72.7% vs ESLD: 84.9%, 81.0%, 77.5%, χ(2) = 0.003, P = 0.958). Univariate analysis identified MELD/PELD score (HR = 1.213, 95%CI: 1.081-1.362, P = 0.001) and bleeding volume (HR = 0.103, 95%CI: 0.020-0.538, P = 0.007) as significant factors affecting the outcomes of patients in the ESBD group. However, multivariate analysis revealed that MELD/PELD score (HR = 1.132, 95%CI: 1.005-1.275, P = 0.041) was the only negative factor that was associated with short survival time. CONCLUSION: MELD/PELD criteria do not adequately measure the clinical characteristics and staging of ESBD. The allocation system based on MELD/PELD criteria should be re-evaluated for patients with ESBD.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1506
[Cu] Class update date: 150604
[Lr] Last revision date:150604
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.3748/wjg.v21.i20.6296

  8 / 1231 MEDLINE  
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[PMID]: 24621061
[Au] Autor:Mezzelani A; Landini M; Facchiano F; Raggi ME; Villa L; Molteni M; De Santis B; Brera C; Caroli AM; Milanesi L; Marabotti A
[Ti] Title:Environment, dysbiosis, immunity and sex-specific susceptibility: a translational hypothesis for regressive autism pathogenesis.
[So] Source:Nutr Neurosci;18(4):145-61, 2015 May.
[Is] ISSN:1476-8305
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Autism is an increasing neurodevelopmental disease that appears by 3 years of age, has genetic and/or environmental etiology, and often shows comorbid situations, such as gastrointestinal (GI) disorders. Autism has also a striking sex-bias, not fully genetically explainable. OBJECTIVE: Our goal was to explain how and in which predisposing conditions some compounds can impair neurodevelopment, why this occurs in the first years of age, and, primarily, why more in males than females. METHODS: We reviewed articles regarding the genetic and environmental etiology of autism and toxins effects on animal models selected from PubMed and databases about autism and toxicology. DISCUSSION: Our hypothesis proposes that in the first year of life, the decreasing of maternal immune protection and child immune-system immaturity create an immune vulnerability to infection diseases that, especially if treated with antibiotics, could facilitate dysbiosis and GI disorders. This condition triggers a vicious circle between immune system impairment and increasing dysbiosis that leads to leaky gut and neurochemical compounds and/or neurotoxic xenobiotics production and absorption. This alteration affects the 'gut-brain axis' communication that connects gut with central nervous system via immune system. Thus, metabolic pathways impaired in autistic children can be affected by genetic alterations or by environment-xenobiotics interference. In addition, in animal models many xenobiotics exert their neurotoxicity in a sex-dependent manner. CONCLUSIONS: We integrate fragmented and multi-disciplinary information in a unique hypothesis and first disclose a possible environmental origin for the imbalance of male:female distribution of autism, reinforcing the idea that exogenous factors are related to the recent rise of this disease.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1504
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1179/1476830513Y.0000000108

  9 / 1231 MEDLINE  
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[PMID]: 24114580
[Au] Autor:Büscher R; Büscher AK; Weber S; Mohr J; Hegen B; Vester U; Hoyer PF
[Ad] Address:Children's Hospital, Pediatrics II, University of Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany, rainer.buescher@uk-essen.de.
[Ti] Title:Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes.
[So] Source:Pediatr Nephrol;29(10):1915-25, 2014 Oct.
[Is] ISSN:1432-198X
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Autosomal recessive polycystic kidney disease (ARPKD), although less frequent than the dominant form, is a common, inherited ciliopathy of childhood that is caused by mutations in the PKHD1-gene on chromosome 6. The characteristic dilatation of the renal collecting ducts starts in utero and can present at any stage from infancy to adulthood. Renal insufficiency may already begin in utero and may lead to early abortion or oligohydramnios and lung hypoplasia in the newborn. However, there are also affected children who have no evidence of renal dysfunction in utero and who are born with normal renal function. Up to 30 % of patients die in the perinatal period, and those surviving the neonatal period reach end stage renal disease (ESRD) in infancy, early childhood or adolescence. In contrast, some affected patients have been diagnosed as adults with renal function ranging from normal to moderate renal insufficiency to ESRD. The clinical spectrum of ARPKD is broader than previously recognized. While bilateral renal enlargement with microcystic dilatation is the predominant clinical feature, arterial hypertension, intrahepatic biliary dysgenesis remain important manifestations that affect approximately 45 % of infants. All patients with ARPKD develop clinical findings of congenital hepatic fibrosis (CHF); however, non-obstructive dilation of the intrahepatic bile ducts in the liver (Caroli's disease) is seen at the histological level in only a subset of patients. Cholangitis and variceal bleeding, sequelae of portal hypertension, are life-threatening complications that may occur more often in advanced cases of liver disease. In this review we focus on common and uncommon kidney-related and non-kidney-related phenotypes. Clinical management of ARPKD patients should include consideration of potential problems related to these manifestations.
[Mh] MeSH terms primary: Polycystic Kidney, Autosomal Recessive/pathology
[Mh] MeSH terms secundary: Humans
Phenotype
Polycystic Kidney, Autosomal Recessive/complications
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Em] Entry month:1506
[Js] Journal subset:IM
[Da] Date of entry for processing:140917
[St] Status:MEDLINE
[do] DOI:10.1007/s00467-013-2634-1

  10 / 1231 MEDLINE  
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[PMID]: 24953524
[Au] Autor:Rock N; McLin V
[Ad] Address:Swiss Center for Liver Disease in Children, Department of Pediatrics, University Hospitals of Geneva, 5, rue Willy-Donze, 1205 Geneva, Switzerland. Electronic address: Nathalie.rock@hcuge.ch.
[Ti] Title:Liver involvement in children with ciliopathies.
[So] Source:Clin Res Hepatol Gastroenterol;38(4):407-14, 2014 Sep.
[Is] ISSN:2210-741X
[Cp] Country of publication:France
[La] Language:eng
[Ab] Abstract:Abnormalities in primary cilia lead to diseases called ciliopathies. Multiple organ involvement is the norm since primary cilia are present in most cells. When cholangiocyte cilia are abnormal, ductal plate malformation ensues leading to such conditions as congenital hepatic fibrosis, Caroli disease or syndrome, or other fibrocystic disease.
[Mh] MeSH terms primary: Ciliary Motility Disorders/complications
Liver Diseases/etiology
[Mh] MeSH terms secundary: Child
Humans
Liver Diseases/diagnosis
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1505
[Js] Journal subset:IM
[Da] Date of entry for processing:140913
[St] Status:MEDLINE


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