Biliary Anomalies in Patients With HNF1B Diabetes.
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.



To systematically characterize HNF1B-related anomalies in the bile ducts by imaging with magnetic resonance imaging (MRI) or magnetic resonance cholangiopancreatography (MRCP).



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.



Structural anomalies in the biliary system, medical history of cholestasis, other findings in abdominal organs, diabetes and antihyperglycemic treatment, hypomagnesemia, and hyperuricemia.



Structural anomalies of the bile ducts were found in seven of 14 patients (50%). Six patients had choledochal cysts, which are generally considered premalignant.



Structural anomalies of the biliary system were common in HNF1B mutation carriers. The malignant potential of HNF1B-associated choledochal cysts warrants further studies.
Department of Endocrinology, Abdominal Centre, Helsinki University Hospital, Helsinki 00029, Finland.|Folkhalsan Research Center; and Research Programs Unit, Diabetes and Obesity, University of Helsinki, Helsinki 00014, Finland.
Jarno L T
JLT
Kettunen
HUS Medical Imaging Center, Radiology, University of Helsinki and Helsinki University Hospital, Helsinki 00029, Finland.
Helka
H
Parviainen
Children's Hospital, University of Helsinki, and Helsinki University Hospital, Helsinki 00029, Finland.
Päivi J
PJ
Miettinen
University of Helsinki, Department of Gastroenterology, Abdominal Centre, and Helsinki University Hospital, Helsinki 00029, Finland.
Martti
M
Färkkilä
Department of Internal Medicine, Central Hospital of Kymenlaakso, Kotka 48210, Finland.
Marjo
M
Tamminen
Department of Pediatrics, Central Hospital of Päijät-Häme, Lahti 15850, Finland.
Pia
P
Salonen
HUS Medical Imaging Center, Radiology, University of Helsinki and Helsinki University Hospital, Helsinki 00029, Finland.
Eila
E
Lantto
Department of Endocrinology, Abdominal Centre, Helsinki University Hospital, Helsinki 00029, Finland.|Folkhalsan Research Center; and Research Programs Unit, Diabetes and Obesity, University of Helsinki, Helsinki 00014, Finland.|Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00014, Finland.
Tiinamaija
T
Tuomi
D000293:Adolescent; D000328:Adult; D000368:Aged; D001659:Biliary Tract / Q000002:abnormalities / Q000000981:diagnostic imaging; D002648:Child; D049448:Cholangiopancreatography, Magnetic Resonance; D015529:Choledochal Cyst / Q000000981:diagnostic imaging / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005387:Finland; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000000981:diagnostic imaging / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010179:Pancreas / Q000002:abnormalities* / Q000000981:diagnostic imaging; D010182:Pancreatic Diseases / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics; D010641:Phenotype; D014564:Urogenital Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D014599:Uterus / Q000002:abnormalities / Q000000981:diagnostic imaging; D055815:Young Adult
C496495:HNF1B protein, human; D051539:Hepatocyte Nuclear Factor 1-beta