Biliary Anomalies in Patients With HNF1B Diabetes

• Published in: The journal of clinical endocrinology and metabolism 2017-06, Vol.102 (6), p.2075-2082
• Main Authors: Kettunen, Jarno L T, Parviainen, Helka, Miettinen, Päivi J, Färkkilä, Martti, Tamminen, Marjo, Salonen, Pia, Lantto, Eila, Tuomi, Tiinamaija
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aged; Bile; Bile ducts; Biliary Tract - abnormalities; Biliary Tract - diagnostic imaging; Catchment areas; Catchments; Child; Cholangiocarcinoma; Cholangiopancreatography, Magnetic Resonance; Choledochal Cyst - diagnostic imaging; Choledochal Cyst - genetics; Cholestasis; Cysts; Diabetes; Diabetes mellitus; Diabetes Mellitus, Type 2 - genetics; Female; Finland; Gallbladder diseases; Hepatocyte Nuclear Factor 1-beta - genetics; Humans; Hyperuricemia; Hypomagnesemia; Kidney Diseases, Cystic - diagnostic imaging; Kidney Diseases, Cystic - genetics; Kidney transplantation; Liver; Magnetic Resonance Imaging; Male; Medical wastes; Middle Aged; Mutation; Neonates; NMR; Nuclear magnetic resonance; Organs; Pancreas - abnormalities; Pancreas - diagnostic imaging; Pancreatic Diseases - congenital; Pancreatic Diseases - diagnostic imaging; Pancreatic Diseases - genetics; Phenotype; Resonance; Urogenital Abnormalities - diagnostic imaging; Urogenital Abnormalities - genetics; Uterus - abnormalities; Uterus - diagnostic imaging; Young Adult
• ISSN: 0021-972X; 1945-7197
• DOI: 10.1210/jc.2017-00061

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.