Biliary Anomalies in Patients With HNF1B Diabetes

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http://hdl.handle.net/10138/198893

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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

Title: Biliary Anomalies in Patients With HNF1B Diabetes
Author: Kettunen, Jarno L. T.; Parviainen, Helka; Miettinen, Päivi J.; Färkkilä, Martti; Tamminen, Marjo; Salonen, Pia; Lantto, Eila; Tuomi, Tiinamaija
Contributor: University of Helsinki, Research Programs Unit
University of Helsinki, Clinicum
University of Helsinki, HUS Children and Adolescents
University of Helsinki, HUS Abdominal Center
University of Helsinki, Department of Diagnostics and Therapeutics
University of Helsinki, Institute for Molecular Medicine Finland
Date: 2017-06
Language: eng
Number of pages: 8
Belongs to series: Journal of Clinical Endocrinology and Metabolism
ISSN: 0021-972X
URI: http://hdl.handle.net/10138/198893
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.
Subject: HEPATOCYTE NUCLEAR FACTOR-1-BETA
CHOLEDOCHAL CYSTS
RENAL-TRANSPLANTATION
KIDNEY-DISEASE
MUTATIONS
GENE
YOUNG
CLASSIFICATION
MANAGEMENT
LIVER
3121 General medicine, internal medicine and other clinical medicine
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