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Biliary Anomalies in Patients With HNF1B Diabetes

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... Full description

Journal Title: The journal of clinical endocrinology and metabolism 2017-06, Vol.102 (6), p.2075-2082
Main Author: Kettunen, Jarno L. T
Other Authors: Parviainen, Helka , Miettinen, Päivi J , Färkkilä, Martti , Tamminen, Marjo , Salonen, Pia , Lantto, Eila , Tuomi, Tiinamaija
Format: Electronic Article Electronic Article
Language: English
Subjects:
NMR
Publisher: Washington, DC: Endocrine Society
ID: ISSN: 0021-972X
Link: https://www.ncbi.nlm.nih.gov/pubmed/28324003
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recordid: cdi_proquest_miscellaneous_1880084586
title: Biliary Anomalies in Patients With HNF1B Diabetes
format: Article
creator:
  • Kettunen, Jarno L. T
  • Parviainen, Helka
  • Miettinen, Päivi J
  • Färkkilä, Martti
  • Tamminen, Marjo
  • Salonen, Pia
  • Lantto, Eila
  • Tuomi, Tiinamaija
subjects:
  • 3121 Internal medicine
  • Abridged Index Medicus
  • 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
  • Ducts
  • 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
  • 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
ispartof: The journal of clinical endocrinology and metabolism, 2017-06, Vol.102 (6), p.2075-2082
description: 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. Imaging with MRI and/or MRCP revealed structural anomalies of the bile ducts in seven of 14 patients with HNF1B mutations. Six had choledochal cysts, which increase the risk for cholangiocarcinoma.
language: eng
source:
identifier: ISSN: 0021-972X
fulltext: no_fulltext
issn:
  • 0021-972X
  • 1945-7197
url: Link


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titleBiliary Anomalies in Patients With HNF1B Diabetes
creatorKettunen, Jarno L. T ; Parviainen, Helka ; Miettinen, Päivi J ; Färkkilä, Martti ; Tamminen, Marjo ; Salonen, Pia ; Lantto, Eila ; Tuomi, Tiinamaija
creatorcontribKettunen, Jarno L. T ; Parviainen, Helka ; Miettinen, Päivi J ; Färkkilä, Martti ; Tamminen, Marjo ; Salonen, Pia ; Lantto, Eila ; Tuomi, Tiinamaija
descriptionAbstract 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. Imaging with MRI and/or MRCP revealed structural anomalies of the bile ducts in seven of 14 patients with HNF1B mutations. Six had choledochal cysts, which increase the risk for cholangiocarcinoma.
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languageeng
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subject3121 Internal medicine ; Abridged Index Medicus ; 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 ; Ducts ; 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 ; 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
ispartofThe journal of clinical endocrinology and metabolism, 2017-06, Vol.102 (6), p.2075-2082
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0Copyright © 2017 Endocrine Society 2017
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7Tuomi, Tiinamaija
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descriptionAbstract 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. Imaging with MRI and/or MRCP revealed structural anomalies of the bile ducts in seven of 14 patients with HNF1B mutations. Six had choledochal cysts, which increase the risk for cholangiocarcinoma.
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03121 Internal medicine
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5Bile
6Bile ducts
7Biliary Tract - abnormalities
8Biliary Tract - diagnostic imaging
9Catchment areas
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14Choledochal Cyst - diagnostic imaging
15Choledochal Cyst - genetics
16Cholestasis
17Cysts
18Diabetes
19Diabetes mellitus
20Diabetes Mellitus, Type 2 - genetics
21Ducts
22Female
23Finland
24Gallbladder diseases
25Hepatocyte Nuclear Factor 1-beta - genetics
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28Hypomagnesemia
29Kidney Diseases, Cystic - diagnostic imaging
30Kidney Diseases, Cystic - genetics
31Kidney transplantation
32Liver
33Magnetic resonance
34Magnetic Resonance Imaging
35Male
36Medical wastes
37Middle Aged
38Mutation
39Neonates
40NMR
41Nuclear magnetic resonance
42Organs
43Pancreas - abnormalities
44Pancreas - diagnostic imaging
45Pancreatic Diseases - congenital
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titleBiliary Anomalies in Patients With HNF1B Diabetes
authorKettunen, Jarno L. T ; Parviainen, Helka ; Miettinen, Päivi J ; Färkkilä, Martti ; Tamminen, Marjo ; Salonen, Pia ; Lantto, Eila ; Tuomi, Tiinamaija
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03121 Internal medicine
1Abridged Index Medicus
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abstractAbstract 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. Imaging with MRI and/or MRCP revealed structural anomalies of the bile ducts in seven of 14 patients with HNF1B mutations. Six had choledochal cysts, which increase the risk for cholangiocarcinoma.
copWashington, DC
pubEndocrine Society
pmid28324003
doi10.1210/jc.2017-00061
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