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

Titel: Biliary Anomalies in Patients With HNF1B Diabetes
Författare: Kettunen, Jarno L. T.; Parviainen, Helka; Miettinen, Päivi J.; Färkkilä, Martti; Tamminen, Marjo; Salonen, Pia; Lantto, Eila; Tuomi, Tiinamaija
Upphovmannens organisation: Research Programs Unit
Diabetes and Obesity Research Program
Endokrinologian yksikkö
Department of Medicine
Clinicum
HUS Abdominal Center
Department of Diagnostics and Therapeutics
HUS Medical Imaging Center
HUS Children and Adolescents
Children's Hospital
Lastentautien yksikkö
Gastroenterologian yksikkö
Institute for Molecular Medicine Finland
Tiinamaija Tuomi Research Group
Datum: 2017-06
Språk: eng
Sidantal: 8
Tillhör serie: Journal of Clinical Endocrinology and Metabolism
ISSN: 0021-972X
DOI: https://doi.org/10.1210/jc.2017-00061
Permanenta länken (URI): http://hdl.handle.net/10138/198893
Abstrakt: 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
Referentgranskad: Ja
Licens: unspecified
Användningsbegränsning: openAccess
Parallelpublicerad version: publishedVersion


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