The Journal of clinical endocrinology and metabolism · 2017
Biliary Anomalies in Patients With HNF1B Diabetes.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Kettunen Jarno L T, Parviainen Helka, Miettinen Päivi J, Färkkilä Martti, Tamminen Marjo, Salonen Pia, Lantto Eila, Tuomi Tiinamaija
Аннотация
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.
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.
Предметные рубрики MeSH
AdolescentAdultAgedBiliary TractChildCholangiopancreatography, Magnetic ResonanceCholedochal CystDiabetes Mellitus, Type 2FemaleFinlandHepatocyte Nuclear Factor 1-betaHumansKidney Diseases, CysticMagnetic Resonance ImagingMaleMiddle AgedMutationPancreasPancreatic DiseasesPhenotypeUrogenital AbnormalitiesUterusYoung Adult