Biliary Anomalies in Patients With HNF1B Diabetes

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dc.contributor.author Kettunen, Jarno L. T.
dc.contributor.author Parviainen, Helka
dc.contributor.author Miettinen, Päivi J.
dc.contributor.author Färkkilä, Martti
dc.contributor.author Tamminen, Marjo
dc.contributor.author Salonen, Pia
dc.contributor.author Lantto, Eila
dc.contributor.author Tuomi, Tiinamaija
dc.date.accessioned 2017-07-10T11:12:00Z
dc.date.available 2017-07-10T11:12:00Z
dc.date.issued 2017-06
dc.identifier.citation Kettunen , J L T , Parviainen , H , Miettinen , P J , Färkkilä , M , Tamminen , M , Salonen , P , Lantto , E & Tuomi , T 2017 , ' Biliary Anomalies in Patients With HNF1B Diabetes ' , Journal of Clinical Endocrinology and Metabolism , vol. 102 , no. 6 , pp. 2075-2082 . https://doi.org/10.1210/jc.2017-00061
dc.identifier.other PURE: 86764026
dc.identifier.other PURE UUID: df40d2e5-7780-49cc-b998-7266bb8f0891
dc.identifier.other WOS: 000403139100034
dc.identifier.other Scopus: 85020421154
dc.identifier.other ORCID: /0000-0002-0250-8559/work/39204256
dc.identifier.other ORCID: /0000-0002-5184-9616/work/39204353
dc.identifier.other ORCID: /0000-0002-8306-6202/work/52694940
dc.identifier.other ORCID: /0000-0002-9995-698X/work/64325504
dc.identifier.uri http://hdl.handle.net/10138/198893
dc.description.abstract Context: The clinical spectrum of organogenetic anomalies associated with HNF1B mutations is heterogeneous. Besides cystic kidney disease, diabetes, and various other manifestations, odd cases of mainly neonatal and posttransplantation cholestasis have been described. The biliary phenotype is incompletely defined. Objective: To systematically characterize HNF1B-related anomalies in the bile ducts by imaging with magnetic resonance imaging (MRI) or magnetic resonance cholangiopancreatography (MRCP). Setting and Patients: Fourteen patients with HNF1B mutations in the catchment area of the Helsinki University Hospital were evaluated with upper abdominal MRI and MRCP. Blood samples and clinical history provided supplemental data on the individual phenotype. Main Outcome Measure(s): Structural anomalies in the biliary system, medical history of cholestasis, other findings in abdominal organs, diabetes and antihyperglycemic treatment, hypomagnesemia, and hyperuricemia. Results: Structural anomalies of the bile ducts were found in seven of 14 patients (50%). Six patients had choledochal cysts, which are generally considered premalignant. Conclusions: Structural anomalies of the biliary system were common in HNF1B mutation carriers. The malignant potential of HNF1B-associated choledochal cysts warrants further studies. en
dc.format.extent 8
dc.language.iso eng
dc.relation.ispartof Journal of Clinical Endocrinology and Metabolism
dc.rights unspecified
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject HEPATOCYTE NUCLEAR FACTOR-1-BETA
dc.subject CHOLEDOCHAL CYSTS
dc.subject RENAL-TRANSPLANTATION
dc.subject KIDNEY-DISEASE
dc.subject MUTATIONS
dc.subject GENE
dc.subject YOUNG
dc.subject CLASSIFICATION
dc.subject MANAGEMENT
dc.subject LIVER
dc.subject 3121 General medicine, internal medicine and other clinical medicine
dc.title Biliary Anomalies in Patients With HNF1B Diabetes en
dc.type Article
dc.contributor.organization Research Programs Unit
dc.contributor.organization Diabetes and Obesity Research Program
dc.contributor.organization Endokrinologian yksikkö
dc.contributor.organization Department of Medicine
dc.contributor.organization Clinicum
dc.contributor.organization HUS Abdominal Center
dc.contributor.organization Department of Diagnostics and Therapeutics
dc.contributor.organization HUS Medical Imaging Center
dc.contributor.organization HUS Children and Adolescents
dc.contributor.organization Children's Hospital
dc.contributor.organization Lastentautien yksikkö
dc.contributor.organization Gastroenterologian yksikkö
dc.contributor.organization Institute for Molecular Medicine Finland
dc.contributor.organization Tiinamaija Tuomi Research Group
dc.description.reviewstatus Peer reviewed
dc.relation.doi https://doi.org/10.1210/jc.2017-00061
dc.relation.issn 0021-972X
dc.rights.accesslevel openAccess
dc.type.version publishedVersion

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