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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
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
1093-5266
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
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), 417-420. (doi:10.2350/09-03-0628-CR.1).

Record type: Article

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

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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
ORCID for Deborah J.G. Mackay: ORCID iD orcid.org/0000-0003-3088-4401

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Date deposited: 08 Dec 2009
Last modified: 20 Jul 2019 01:10

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Contributors

Author: Alan P. Kenny
Author: Nancy A. Crimmins
Author: Robert J. Hopkin
Author: Kevin E. Bove
Author: Mike A. Leonis

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