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[PMID]: 26385851
[Au] Autor:Courcet JB; Minello A; Prieur F; Morisse L; Phelip JM; Beurdeley A; Meynard D; Massenet D; Lacassin F; Duffourd Y; Gigot N; St-Onge J; Hillon P; Vanlemmens C; Mousson C; Cerceuil JP; Guiu B; Thevenon J; Thauvin-Robinet C; Jacquemin E; Rivière JB; Michel-Calemard L; Faivre L
[Ad] Address:Service de p, é, diatrie 1 et de génétique médicale, Centre Hospitalo-Universitaire, Dijon, France....
[Ti] Title:Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
[So] Source:Am J Med Genet A;167(12):3046-53, 2015 Dec.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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.10444G>A; p.Arg3482Cys and c.5521C>T; p.Glu1841Lys), segregating with the symptoms. Two compound heterozygous PKHD1 variants, including one hypomorphic variant, were identified in two other familial cases of DPM with at least one patient presenting with CD. This report widens the phenotypic variability of PKHD1 variants to VMC, and others hepatic bile ducts malformations with inconstant renal phenotype in adults and highlights the important intra-familial phenotypic variability. It also showed that PKHD1 might be a major gene for CD. This work adds an example of the contribution of exome sequencing, not only in the discovery of new genes but also in expanding the phenotypic spectrum of well-known disease-associated genes, using reverse phenotyping. © 2015 Wiley Periodicals, Inc.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1601
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1002/ajmg.a.37352

  2 / 789 MEDLINE  
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[PMID]: 26385435
[Au] Autor:Lai Q; Lerut J
[Ad] Address:Starzl Unit Abdominal Transplantation, University Hospitals Saint Luc, Université catholique Louvain, UCL, Brussels, Belgium.
[Ti] Title:Proposal for an algorithm for liver transplantation in Caroli's disease and syndrome: putting an uncommon effort into a common task.
[So] Source:Clin Transplant;30(1):3-9, 2016 Jan.
[Is] ISSN:1399-0012
[Cp] Country of publication:Denmark
[La] Language:eng
[Ab] Abstract:Liver transplantation (LT) represents an uncommon indication for Caroli's disease (CD) or syndrome (CS). Excellent results of LT have been reported as shown by recent multicentric European and American registry reports. Clear therapeutic flowcharts to adopt in these diseases are still lacking. This review aims at analyzing highlighting recent transplant experiences in this field and also at focusing on the role of LT in case-specific comorbidities such as development of cholangiocellular cancer or renal failure are present.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1601
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1111/ctr.12640

  3 / 789 MEDLINE  
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[PMID]: 25689455
[Au] Autor:Hoyer PF
[Ad] Address:Zentrum für Kinder- und Jugendmedizin, Klinik für Kinderheilkunde 2, Universitätsklinikum Essen, Universität Duisburg Essen, Essen, Germany.
[Ti] Title:Clinical manifestations of autosomal recessive polycystic kidney disease.
[So] Source:Curr Opin Pediatr;27(2):186-92, 2015 Apr.
[Is] ISSN:1531-698X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PURPOSE OF REVIEW: To describe the recent increase in the understanding of the clinical manifestation of autosomal recessive polycystic kidney disease (ARPKD), which is caused by mutations in the PKHD1 gene. The change in nomenclature reflects the genetic contribution to the understanding of pleiotropic disease manifestations. The term 'hepatorenal fibrocystic disorder' or 'ARPKD-congenital hepatic fibrosis (CHF)' addresses the major organ manifestations of the disease. RECENT FINDINGS: More than 300 different mutations in the PKHD1 gene have been described; however, there is no genotype-phenotype correlation. Cystic phenotype in the kidneys is highly variable. Renal oligohydramnios before 28 weeks of gestation may be lethal, whereas perinatal manifestations have a better prognosis. More than 60% of neonates with pulmonary hypoplasia may survive; about 25% need postnatal dialysis. After 10 years, 60% require renal replacement therapy. Liver fibrosis is always found and cholangiodysplasia is common. The Caroli phenotype is seen in up to 80% with perinatal manifestation. Recurrent cholangitis and cirrhosis may require liver transplantation in about 10% of patients. Neurocognitive development is in the usual range of children with moderate renal failure, but deserves further research. SUMMARY: The pleiotropic manifestations of ARPKD-CHF require multidisciplinary efforts to anticipate organ complications and to improve a possible good prognosis.
[Mh] MeSH terms primary: Genetic Diseases, Inborn/physiopathology
Kidney Failure, Chronic/physiopathology
Liver Cirrhosis/physiopathology
Polycystic Kidney, Autosomal Recessive/diagnosis
Receptors, Cell Surface/genetics
[Mh] MeSH terms secundary: Age of Onset
Child
Child, Preschool
DNA Mutational Analysis
Female
Genetic Diseases, Inborn/diagnosis
Genetic Diseases, Inborn/genetics
Genetic Diseases, Inborn/therapy
Humans
Infant
Infant, Newborn
Kidney Failure, Chronic/genetics
Kidney Failure, Chronic/therapy
Kidney Transplantation
Liver Cirrhosis/diagnosis
Liver Cirrhosis/genetics
Liver Cirrhosis/therapy
Liver Transplantation
Mutation, Missense/genetics
Polycystic Kidney, Autosomal Recessive/genetics
Polycystic Kidney, Autosomal Recessive/physiopathology
Polycystic Kidney, Autosomal Recessive/therapy
Pregnancy
Prognosis
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (PKHD1 protein, human); 0 (Receptors, Cell Surface)
[Em] Entry month:1512
[Js] Journal subset:IM
[Da] Date of entry for processing:150313
[St] Status:MEDLINE
[do] DOI:10.1097/MOP.0000000000000196

  4 / 789 MEDLINE  
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[PMID]: 25758310
[Au] Autor:Marikar D; Gaafer D
[Ad] Address:Department of Paediatrics, Lister Hospital, Stevenage, UK.
[Ti] Title:What is this sign? The 'central dot sign', associated with Caroli's disease and Caroli's syndrome.
[So] Source:J Paediatr Child Health;51(3):347-8, 2015 Mar.
[Is] ISSN:1440-1754
[Cp] Country of publication:Australia
[La] Language:eng
[Mh] MeSH terms primary: Caroli Disease/diagnosis
Tomography, X-Ray Computed
[Mh] MeSH terms secundary: Caroli Disease/complications
Caroli Disease/radiography
Diagnosis, Differential
Fever/etiology
Humans
Infant
Jaundice/etiology
Male
Physical Examination
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1512
[Js] Journal subset:IM
[Da] Date of entry for processing:150311
[St] Status:MEDLINE
[do] DOI:10.1111/jpc.12575

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[PMID]: 26260382
[Au] Autor:Park E; Lee JM; Ahn YH; Kang HG; Ha II; Lee JH; Park YS; Kim NK; Park WY; Cheong HI
[Ad] Address:Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehak-Ro, Jongno-Gu, Seoul, 110-744, Korea....
[Ti] Title:Hepatorenal fibrocystic diseases in children.
[So] Source:Pediatr Nephrol;31(1):113-9, 2016 Jan.
[Is] ISSN:1432-198X
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:BACKGROUND: Hepatorenal fibrocystic diseases (HRFCDs) are a group of monogenic disorders characterized by developmental abnormalities involving the liver and kidney. In this study, we performed genotype and phenotype analyses of children with HRFCDs to determine the distribution of underlying diseases. METHODS: A total of 36 children with HRFCDs were recruited, with genetic tests being performed in 22 patients and 14 patients diagnosed clinically as having autosomal recessive polycystic kidney disease (ARPKD). RESULTS: In children with HRFCDs, ARPKD was the most common disease, found in 16/36 (44.4 %), followed by nephronophthisis 13 (NPHP13) in 11/36 (30.6 %) and Meckel-Gruber syndrome type 3 (MKS3) in 4/36 (11.1 %). Renal function deteriorated faster in children with NPHP13. The main hepatic pathology was Caroli disease in the NPHP13 patients, while most other patients had Caroli syndrome or congenital hepatic fibrosis. Of note, three of four MKS3 patients had an accompanying choledochal cyst. No ARPKD patient had other organ involvement, while several NPHP13 patients had ocular and/or neurodevelopmental involvement. In contrast, all MKS3 patients had severe ocular and neurodevelopmental involvement. CONCLUSIONS: NPHP13 is a major disease in the HRFCD category, and thorough evaluation of its clinical features, including kidney, liver and other organ involvement, may aid in the differential diagnosis of HRFCD.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1511
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1007/s00467-015-3185-4

  6 / 789 MEDLINE  
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[PMID]: 26302876
[Au] Autor:Moslim MA; Gunasekaran G; Vogt D; Cruise M; Morris-Stiff G
[Ad] Address:Department of HPB Surgery, Digestive Disease Institute, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH, 44195, USA. moslimm@ccf.org....
[Ti] Title:Surgical Management of Caroli's Disease: Single Center Experience and Review of the Literature.
[So] Source:J Gastrointest Surg;19(11):2019-27, 2015 Nov.
[Is] ISSN:1873-4626
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Caroli's disease is a rare congenital condition characterized by non-obstructive dilatation of intrahepatic ducts. In Caroli's syndrome, there is additionally an associated congenital hepatic fibrosis. METHODS: With institutional review board approval, we identified all patients with Caroli's disease and syndrome. RESULTS: Nine patients were identified, seven males and two females, with a median age of 40 years. Final pathological diagnoses included Caroli's disease (n = 6) and Caroli's syndrome (n = 3). Patients presented with deranged liver function, cholangitis, cholangiocarcinoma, abdominal pain, cirrhosis, or were diagnosed incidentally. Four patients underwent resection and two underwent liver transplantation. Of the resection group, two patients subsequently underwent transplantation for recurrent cholangitis due to anastomotic stricture in one patient and for end-stage liver disease in the other. All patients with Caroli's syndrome underwent liver transplantation. Three patients died during follow-up at 26.2, 7.8, and 3 months post-diagnosis with recurrence of cholangiocarcinoma, liver failure, and metastatic cholangiocarcinoma, respectively. Six patients are alive with a median follow-up of 60 months since presentation (range = 10-134 months). CONCLUSIONS: Caroli's disease and syndrome have a varied presentation. Most individuals with Caroli's disease may be adequately treated by resection, but transplantation is required for Caroli's syndrome patients due to the associated hepatic fibrosis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1510
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1007/s11605-015-2918-9

  7 / 789 MEDLINE  
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[PMID]: 25726036
[Au] Autor:Lee JM; Ahn YH; Kang HG; Ha II; Lee K; Moon KC; Lee JH; Park YS; Cho YM; Bae JS; Kim NK; Park WY; Cheong HI
[Ad] Address:Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehak-Ro, Jongno-Gu, Seoul, 110-744, Korea.
[Ti] Title:Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.
[So] Source:Pediatr Nephrol;30(9):1451-8, 2015 Sep.
[Is] ISSN:1432-198X
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:BACKGROUND: Nephronophthisis 13 (NPHP 13) is associated with mutations in the WDR19 gene, which encodes for a protein in the intraflagellar transport complex. Herein, we describe six additional cases accompanied by Caroli syndrome or disease. METHODS: Targeted exome sequencing covering 96 ciliopathy-related genes was performed for 48 unrelated Korean patients with a clinical suspicion of NPHP. Mutations were confirmed by Sanger sequencing. We evaluated the expression of WDR19 in the biopsied kidney by immunohistochemistry in patients and controls. RESULTS: We detected three (3/48, 6.3 %) unrelated index cases with WDR19 mutations. One of the cases involved two siblings with the same mutation. Later, we detected an additional index case with a similar phenotype of kidney and liver involvement by Sanger sequencing of WDR19. The p.R1178Q mutation was common in all patients. All of the six affected patients from four families progressed to chronic kidney disease. Of note, all six patients had Caroli syndrome or disease. Immunohistochemistry for WDR19 showed localized expression along the luminal borders of the renal tubular epithelium in controls, whereas it showed diffuse cytoplasmic staining in the affected patients. CONCLUSIONS: Caroli disease is a major extra-renal phenotype associated with mutations in WDR19 in the Korean population. In this study, we visually validated the expression pattern of mutant WDR19 protein in the kidneys of NPHP 13 patients. More data are needed to identify the true frequency of p.R1178Q. Functional studies including transfection assay will provide solid grounds for the pathogenicity of each mutation.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1508
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1007/s00467-015-3068-8

  8 / 789 MEDLINE  
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[PMID]: 26157755
[Au] Autor:Gu DH; Park MS; Jung CH; Yoo YJ; Cho JY; Lee YH; Seo YS; Yim HJ; Um SH; Ryu HS
[Ad] Address:Department of Internal Medicine, Korea University College of Medicine, Seoul, Korea....
[Ti] Title:Caroli's disease misdiagnosed as intraductal papillary neoplasm of the bile duct.
[So] Source:Clin Mol Hepatol;21(2):175-9, 2015 Jun.
[Is] ISSN:2287-285X
[Cp] Country of publication:Korea (South)
[La] Language:eng
[Ab] Abstract:Caroli's disease is a rare autosomal-recessive disorder caused by malformation of the ductal plate during embryonic development. Although it is present at birth, Caroli's disease is typically not diagnosed until between the second and fourth decades of life, as it was in the present patient. Here we report a rare case of Caroli's disease limited to one liver segment, which was initially misdiagnosed as an intraductal papillary neoplasm of the bile duct. The asymptomatic patient was treated with liver segmentectomy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1507
[Cu] Class update date: 150711
[Lr] Last revision date:150711
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.3350/cmh.2015.21.2.175

  9 / 789 MEDLINE  
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[PMID]: 25115876
[Au] Autor:Chandar J; Garcia J; Jorge L; Tekin A
[Ad] Address:Department of Pediatrics, Division of Pediatric Nephrology, Holtz Children's Hospital, University of Miami Miller School of Medicine, PO Box 016960 (M-714), Miami, FL, 33101, USA, jchanda2@med.miami.edu.
[Ti] Title:Transplantation in autosomal recessive polycystic kidney disease: liver and/or kidney?
[So] Source:Pediatr Nephrol;30(8):1233-42, 2015 Aug.
[Is] ISSN:1432-198X
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Autosomal recessive polycystic kidney disease (ARPKD) is characterized by enlarged kidneys with dilated collecting ducts and congenital hepatic fibrosis. There is a variable rate of progression of kidney and liver disease. Portal hypertension and Caroli's disease occur from liver involvement that contributes to morbidity and mortality. Approximately 40 % of patients have a severe disease phenotype leading to rapid onset of end-stage kidney disease (ESKD) and signs of portal hypertension and the rest may have predominant involvement of either the kidney or liver. It is important for the physician to establish the extent of organ involvement before deciding on the ultimate plan of management, especially when transplantation is required. Isolated renal transplantation can be considered when liver involvement is minimal. If hepatobiliary disease is prominent, and kidney function is preserved, management options are based on individual characteristics. In the presence of significant liver disease and ESKD, consideration should be given to combined liver kidney transplantation, which can be beneficial in eliminating the consequences of both kidney and liver disease. However, this is a complex surgical procedure that needs to be performed at experienced transplant centers. Improvement in surgical techniques has considerably improved short-term graft survival with the added advantage of the liver offering immunologic protection to the kidney allograft.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1506
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1007/s00467-014-2887-3

  10 / 789 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; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1506
[Cu] Class update date: 150604
[Lr] Last revision date:150604
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.3748/wjg.v21.i20.6296


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