Neonatal diabetes mellitus: a disease linked to multiple mechanisms
Identifieur interne : 000143 ( Pmc/Curation ); précédent : 000142; suivant : 000144Neonatal diabetes mellitus: a disease linked to multiple mechanisms
Auteurs : Michel Polak [France] ; Hélène Cavé [France]Source :
- Orphanet Journal of Rare Diseases [ 1750-1172 ] ; 2007.
Abstract
Transient (TNDM) and Permanent (PNDM) Neonatal Diabetes Mellitus are rare conditions occurring in 1:300,000–400,000 live births. TNDM infants develop diabetes in the first few weeks of life but go into remission in a few months, with possible relapse to a permanent diabetes state usually around adolescence or as adults. The pancreatic dysfunction in this condition may be maintained throughout life, with relapse initiated at times of metabolic stress such as puberty or pregnancy. In PNDM, insulin secretory failure occurs in the late fetal or early post-natal period and does not go into remission. Patients with TNDM are more likely to have intrauterine growth retardation and less likely to develop ketoacidosis than patients with PNDM. In TNDM, patients are younger at the diagnosis of diabetes and have lower initial insulin requirements. Considerable overlap occurs between the two groups, so that TNDM cannot be distinguished from PNDM based on clinical features. Very early onset diabetes mellitus seems to be unrelated to autoimmunity in most instances. A number of conditions are associated with PNDM, some of which have been elucidated at the molecular level. Among these, the very recently elucidated mutations in the
Url:
DOI: 10.1186/1750-1172-2-12
PubMed: 17349054
PubMed Central: 1847805
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<front><div type="abstract" xml:lang="en"><p>Transient (TNDM) and Permanent (PNDM) Neonatal Diabetes Mellitus are rare conditions occurring in 1:300,000–400,000 live births. TNDM infants develop diabetes in the first few weeks of life but go into remission in a few months, with possible relapse to a permanent diabetes state usually around adolescence or as adults. The pancreatic dysfunction in this condition may be maintained throughout life, with relapse initiated at times of metabolic stress such as puberty or pregnancy. In PNDM, insulin secretory failure occurs in the late fetal or early post-natal period and does not go into remission. Patients with TNDM are more likely to have intrauterine growth retardation and less likely to develop ketoacidosis than patients with PNDM. In TNDM, patients are younger at the diagnosis of diabetes and have lower initial insulin requirements. Considerable overlap occurs between the two groups, so that TNDM cannot be distinguished from PNDM based on clinical features. Very early onset diabetes mellitus seems to be unrelated to autoimmunity in most instances. A number of conditions are associated with PNDM, some of which have been elucidated at the molecular level. Among these, the very recently elucidated mutations in the <italic>KCNJ11 </italic>
and <italic>ABCC8 </italic>
genes, encoding the Kir6.2 and SUR1 subunit of the pancreatic K<sub>ATP </sub>
channel involved in regulation of insulin secretion, account for one third to half of the PNDM cases. Molecular analysis of chromosome 6 anomalies (found in more than 60% in TNDM), and the <italic>KCNJ11 </italic>
and <italic>ABCC8 </italic>
genes encoding Kir6.2 and SUR1, provides a tool to identify TNDM from PNDM in the neonatal period. This analysis also has potentially important therapeutic consequences leading to transfer some patients, those with mutations in <italic>KCNJ11 </italic>
and <italic>ABCC8 </italic>
genes, from insulin therapy to sulfonylureas. Recurrent diabetes is common in patients with "transient" neonatal diabetes mellitus and, consequently, prolonged follow-up is imperative. Realizing how difficult it is to take care of a child of this age with diabetes mellitus should prompt clinicians to transfer these children to specialized centers. Insulin therapy and high caloric intake are the basis of the treatment. Insulin pump may offer an interesting therapeutic tool in this age group in experienced hands.</p>
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<front><journal-meta><journal-id journal-id-type="nlm-ta">Orphanet J Rare Dis</journal-id>
<journal-title>Orphanet Journal of Rare Diseases</journal-title>
<issn pub-type="epub">1750-1172</issn>
<publisher><publisher-name>BioMed Central</publisher-name>
<publisher-loc>London</publisher-loc>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">17349054</article-id>
<article-id pub-id-type="pmc">1847805</article-id>
<article-id pub-id-type="publisher-id">1750-1172-2-12</article-id>
<article-id pub-id-type="doi">10.1186/1750-1172-2-12</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Review</subject>
</subj-group>
</article-categories>
<title-group><article-title>Neonatal diabetes mellitus: a disease linked to multiple mechanisms</article-title>
</title-group>
<contrib-group><contrib id="A1" corresp="yes" contrib-type="author"><name><surname>Polak</surname>
<given-names>Michel</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
<email>michel.polak@nck.aphp.fr</email>
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<contrib id="A2" contrib-type="author"><name><surname>Cavé</surname>
<given-names>Hélène</given-names>
</name>
<xref ref-type="aff" rid="I2">2</xref>
<email>helene.cave@rdb.aphp.fr</email>
</contrib>
</contrib-group>
<aff id="I1"><label>1</label>
Faculty of medicine Paris René Descartes, Paediatric endocrinology and INSERM U845, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, Paris, France</aff>
<aff id="I2"><label>2</label>
Département de Génétique, Hôpital Robert Debré, 48 Boulevard Sérurier, 75019 Paris, France</aff>
<pub-date pub-type="collection"><year>2007</year>
</pub-date>
<pub-date pub-type="epub"><day>9</day>
<month>3</month>
<year>2007</year>
</pub-date>
<volume>2</volume>
<fpage>12</fpage>
<lpage>12</lpage>
<ext-link ext-link-type="uri" xlink:href="http://www.OJRD.com/content/2/1/12"></ext-link>
<history><date date-type="received"><day>5</day>
<month>2</month>
<year>2007</year>
</date>
<date date-type="accepted"><day>9</day>
<month>3</month>
<year>2007</year>
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<permissions><copyright-statement>Copyright © 2007 Polak and Cavé; licensee BioMed Central Ltd.</copyright-statement>
<copyright-year>2007</copyright-year>
<copyright-holder>Polak and Cavé; licensee BioMed Central Ltd.</copyright-holder>
<license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by/2.0"><p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/2.0"></ext-link>
), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</p>
<pmc-comment>
Polak
Michel
michel.polak@nck.aphp.fr
Neonatal diabetes mellitus: a disease linked to multiple mechanisms
2007 Orphanet Journal of Rare Diseases 2(1): 12-. (2007) 1750-1172(2007)2:1<12> urn:ISSN:1750-1172 </pmc-comment>
</license>
</permissions>
<abstract><p>Transient (TNDM) and Permanent (PNDM) Neonatal Diabetes Mellitus are rare conditions occurring in 1:300,000–400,000 live births. TNDM infants develop diabetes in the first few weeks of life but go into remission in a few months, with possible relapse to a permanent diabetes state usually around adolescence or as adults. The pancreatic dysfunction in this condition may be maintained throughout life, with relapse initiated at times of metabolic stress such as puberty or pregnancy. In PNDM, insulin secretory failure occurs in the late fetal or early post-natal period and does not go into remission. Patients with TNDM are more likely to have intrauterine growth retardation and less likely to develop ketoacidosis than patients with PNDM. In TNDM, patients are younger at the diagnosis of diabetes and have lower initial insulin requirements. Considerable overlap occurs between the two groups, so that TNDM cannot be distinguished from PNDM based on clinical features. Very early onset diabetes mellitus seems to be unrelated to autoimmunity in most instances. A number of conditions are associated with PNDM, some of which have been elucidated at the molecular level. Among these, the very recently elucidated mutations in the <italic>KCNJ11 </italic>
and <italic>ABCC8 </italic>
genes, encoding the Kir6.2 and SUR1 subunit of the pancreatic K<sub>ATP </sub>
channel involved in regulation of insulin secretion, account for one third to half of the PNDM cases. Molecular analysis of chromosome 6 anomalies (found in more than 60% in TNDM), and the <italic>KCNJ11 </italic>
and <italic>ABCC8 </italic>
genes encoding Kir6.2 and SUR1, provides a tool to identify TNDM from PNDM in the neonatal period. This analysis also has potentially important therapeutic consequences leading to transfer some patients, those with mutations in <italic>KCNJ11 </italic>
and <italic>ABCC8 </italic>
genes, from insulin therapy to sulfonylureas. Recurrent diabetes is common in patients with "transient" neonatal diabetes mellitus and, consequently, prolonged follow-up is imperative. Realizing how difficult it is to take care of a child of this age with diabetes mellitus should prompt clinicians to transfer these children to specialized centers. Insulin therapy and high caloric intake are the basis of the treatment. Insulin pump may offer an interesting therapeutic tool in this age group in experienced hands.</p>
</abstract>
</article-meta>
</front>
</pmc>
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