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Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register

Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register
Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register
Background: Neonatal diabetes mellitus (NDM) is a rare monogenic form of diabetes which is diagnosed in the first 6 months of life. Several studies in the last few years provide information on genetic causes for NDM.

Objective: The aim of this study was to identify all patients with diabetes in the first 6 months of life through the Austrian Diabetes Register, which is available since 1989. A retrospective data analyses was performed to calculate the current incidence of NDM.

Subjects and Methods: Ten patients were registered with diabetes onset within the first 6 months of life in the Austrian Diabetes Register. Evaluation of detailed clinical data was performed by sending a questionnaire to all diabetes centers.

Results: Ten patients from nine different families with NDM were diagnosed in Austria from 1989 until September 2007. Seven patients (one male, six females) had transient NDM (TNDM), three (two males, one female) showed a permanent course [permanent neonatal diabetes mellitus (PNDM)]. One had immunodeficiency, polyendocrinopathy and enteropathy X-linked (IPEX) syndrome and another showed aplasia of the pancreas; no genetic etiology was found in the third case. In three out of seven patients with a transient course of NDM a genetic diagnosis was possible. Two female siblings had activating point mutations in the ABCC8 gene, although one patient had paternal uniparental isodisomy of chromosome 6q24. One patient's family did not consent to genetic testing.

Conclusions: The incidence of NDM in Austria is 1/160 949, with an incidence of 1/ 536 499 for PNDM and 1/229 928 for TNDM.
18-23
Wiedemann, B.
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Schober, E.
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Waldhoer, T.
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Koehle, J.
af22bd3e-737c-40b1-824c-e93a254da540
Flanagan, S.E.
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Mackay, D.J.
588a653e-9785-4a00-be71-4e547850ee4a
Steichen, E.
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Meranzer, D.
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Zimmerhackl, L.B.
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Hattersley, A.T.
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Ellard, S.
e83de653-52c7-4706-9ddf-da5047a1cef5
Hofer, S.
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Wiedemann, B.
bb307beb-5aa2-4cd5-8b9e-a93360dca2c3
Schober, E.
2b7c9fa0-432b-4d92-bc2e-dfe8f4fc5bcd
Waldhoer, T.
ab798da2-1b42-4d88-9d13-13d2084bcb63
Koehle, J.
af22bd3e-737c-40b1-824c-e93a254da540
Flanagan, S.E.
1713096d-47b2-427d-980f-3c3450a743dd
Mackay, D.J.
588a653e-9785-4a00-be71-4e547850ee4a
Steichen, E.
89b17e00-ca15-4920-ab72-61d404b3f835
Meranzer, D.
0d7813fd-8a56-40e9-85cc-1cffd74af986
Zimmerhackl, L.B.
f455a1de-16f4-414e-8b46-e261056cc55e
Hattersley, A.T.
c555d835-dd08-415c-be14-26940d5c582d
Ellard, S.
e83de653-52c7-4706-9ddf-da5047a1cef5
Hofer, S.
e5eb5591-b416-40f6-ae17-cbf813979cba

Wiedemann, B., Schober, E., Waldhoer, T., Koehle, J., Flanagan, S.E., Mackay, D.J., Steichen, E., Meranzer, D., Zimmerhackl, L.B., Hattersley, A.T., Ellard, S. and Hofer, S. (2010) Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. Pediatric Diabetes, 11 (1), 18-23. (doi:10.1111/j.1399-5448.2009.00530.x).

Record type: Article

Abstract

Background: Neonatal diabetes mellitus (NDM) is a rare monogenic form of diabetes which is diagnosed in the first 6 months of life. Several studies in the last few years provide information on genetic causes for NDM.

Objective: The aim of this study was to identify all patients with diabetes in the first 6 months of life through the Austrian Diabetes Register, which is available since 1989. A retrospective data analyses was performed to calculate the current incidence of NDM.

Subjects and Methods: Ten patients were registered with diabetes onset within the first 6 months of life in the Austrian Diabetes Register. Evaluation of detailed clinical data was performed by sending a questionnaire to all diabetes centers.

Results: Ten patients from nine different families with NDM were diagnosed in Austria from 1989 until September 2007. Seven patients (one male, six females) had transient NDM (TNDM), three (two males, one female) showed a permanent course [permanent neonatal diabetes mellitus (PNDM)]. One had immunodeficiency, polyendocrinopathy and enteropathy X-linked (IPEX) syndrome and another showed aplasia of the pancreas; no genetic etiology was found in the third case. In three out of seven patients with a transient course of NDM a genetic diagnosis was possible. Two female siblings had activating point mutations in the ABCC8 gene, although one patient had paternal uniparental isodisomy of chromosome 6q24. One patient's family did not consent to genetic testing.

Conclusions: The incidence of NDM in Austria is 1/160 949, with an incidence of 1/ 536 499 for PNDM and 1/229 928 for TNDM.

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Published date: February 2010

Identifiers

Local EPrints ID: 69819
URI: http://eprints.soton.ac.uk/id/eprint/69819
PURE UUID: 20a435fa-99aa-4b88-b75e-dfc09cca0c35
ORCID for D.J. Mackay: ORCID iD orcid.org/0000-0003-3088-4401

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Date deposited: 08 Dec 2009
Last modified: 26 Nov 2019 01:54

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Contributors

Author: B. Wiedemann
Author: E. Schober
Author: T. Waldhoer
Author: J. Koehle
Author: S.E. Flanagan
Author: D.J. Mackay ORCID iD
Author: E. Steichen
Author: D. Meranzer
Author: L.B. Zimmerhackl
Author: A.T. Hattersley
Author: S. Ellard
Author: S. Hofer

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