Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report
Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report
We report for the first time a patient with both transient neonatal diabetes mellitus (TNDM) and idiopathic neonatal cholestasis, with both features resolving over a similar time course. Cholestasis was due to paucity of interlobular bile ducts (PILBD). Genetic analysis was consistent with a uniparental disomy of chromosome 6. Paucity of interlobular bile ducts is common in Alagille syndrome but also occurs by unknown mechanisms in a wide spectrum of other diseases. We propose a shared explanation for this patient's TNDM and PILBD mediated by the noted chromosomal abnormality. We suggest that hepatobiliary function be evaluated in patients with TNDM to determine the prevalence and course of cholestasis of the disease
cholestasis, chromosome 6q24, methylation defect, paucity of interlobular bile ducts, transient neonatal diabetes mellitus, uniparental isodisomy
417-420
Kenny, Alan P.
4afee073-bb94-4bdc-b3b3-b5a0f356d696
Crimmins, Nancy A.
74a2dae7-960b-43ca-be8e-901a437f4ff3
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Hopkin, Robert J.
a1c020e9-5413-4347-9a58-8601b3a202ed
Bove, Kevin E.
b0c3bab3-3c23-4ef7-ba0c-9d4bd65b1d45
Leonis, Mike A.
5e3f5ce4-a469-4642-ae3f-b0dd9bac00c4
September 2009
Kenny, Alan P.
4afee073-bb94-4bdc-b3b3-b5a0f356d696
Crimmins, Nancy A.
74a2dae7-960b-43ca-be8e-901a437f4ff3
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Hopkin, Robert J.
a1c020e9-5413-4347-9a58-8601b3a202ed
Bove, Kevin E.
b0c3bab3-3c23-4ef7-ba0c-9d4bd65b1d45
Leonis, Mike A.
5e3f5ce4-a469-4642-ae3f-b0dd9bac00c4
Kenny, Alan P., Crimmins, Nancy A., Mackay, Deborah J.G., Hopkin, Robert J., Bove, Kevin E. and Leonis, Mike A.
(2009)
Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report.
Pediatric and Developmental Pathology, 12 (5), .
(doi:10.2350/09-03-0628-CR.1).
Abstract
We report for the first time a patient with both transient neonatal diabetes mellitus (TNDM) and idiopathic neonatal cholestasis, with both features resolving over a similar time course. Cholestasis was due to paucity of interlobular bile ducts (PILBD). Genetic analysis was consistent with a uniparental disomy of chromosome 6. Paucity of interlobular bile ducts is common in Alagille syndrome but also occurs by unknown mechanisms in a wide spectrum of other diseases. We propose a shared explanation for this patient's TNDM and PILBD mediated by the noted chromosomal abnormality. We suggest that hepatobiliary function be evaluated in patients with TNDM to determine the prevalence and course of cholestasis of the disease
This record has no associated files available for download.
More information
Published date: September 2009
Keywords:
cholestasis, chromosome 6q24, methylation defect, paucity of interlobular bile ducts, transient neonatal diabetes mellitus, uniparental isodisomy
Identifiers
Local EPrints ID: 69672
URI: http://eprints.soton.ac.uk/id/eprint/69672
ISSN: 1093-5266
PURE UUID: d761ef51-b611-45de-9b0e-fc4a0bacddae
Catalogue record
Date deposited: 08 Dec 2009
Last modified: 14 Mar 2024 02:42
Export record
Altmetrics
Contributors
Author:
Alan P. Kenny
Author:
Nancy A. Crimmins
Author:
Robert J. Hopkin
Author:
Kevin E. Bove
Author:
Mike A. Leonis
Download statistics
Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.
View more statistics
