A clinical case of neonatal diabetes caused by INS gene mutation
Neonatal diabetes mellitus (NDM) is a severe endocrine pathology diagnosed in children during the first months of life. It comprises rare (1:300 000–1:400 000 newborns) metabolic disorders with postnatal pancreatic β-cell dysfunction, manifested by hyperglycaemia and hypoinsulinae...
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| Format: | Article |
| Language: | English |
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Endocrinology Research Centre
2019-06-01
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| Series: | Сахарный диабет |
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| Online Access: | https://www.dia-endojournals.ru/jour/article/view/9876 |
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| author | Rosa A. Atanesyan Tatyana A. Uglova Tatyana M. Vdovina Leonid Ya. Klimov Marina U. Kostanova Victoriya A. Kuryaninova Marina V. Stoyan Lilit S. Alaverdyan Svetlana V. Dolbnya |
| author_facet | Rosa A. Atanesyan Tatyana A. Uglova Tatyana M. Vdovina Leonid Ya. Klimov Marina U. Kostanova Victoriya A. Kuryaninova Marina V. Stoyan Lilit S. Alaverdyan Svetlana V. Dolbnya |
| author_sort | Rosa A. Atanesyan |
| collection | DOAJ |
| description | Neonatal diabetes mellitus (NDM) is a severe endocrine pathology diagnosed in children during the first months of life. It comprises rare (1:300 000–1:400 000 newborns) metabolic disorders with postnatal pancreatic β-cell dysfunction, manifested by hyperglycaemia and hypoinsulinaemia. It is currently established that molecular genetic diagnosis of neonatal diabetes forms can influence treatment and prognosis. Interestingly, most identified mutations in the insulin gene are not inherited, but are sporadic. There is evidence that, in addition to heterozygous INS mutations, NDM can be caused by homozygous or compound-heterozygous mutations. The present article presents the clinical case of a girl with NDM associated with an INS gene mutation. INS gene mutations cause permanent diabetes and require children to undergo genetic examination, especially patients with type 1 diabetes in the absence of antibodies. Currently, there are no data that allow to determine a phenotypic and genotypic ‘portrait’ of NDM forms or to explain the factors determining their occurrence. Further studies of clinical cases of neonatal diabetes are therefore required to determine the characteristics of NDM subtypes with subsequent disease prognosis. |
| format | Article |
| id | doaj-art-752e9da87603460985a3aaa39fa93caf |
| institution | OA Journals |
| issn | 2072-0351 2072-0378 |
| language | English |
| publishDate | 2019-06-01 |
| publisher | Endocrinology Research Centre |
| record_format | Article |
| series | Сахарный диабет |
| spelling | doaj-art-752e9da87603460985a3aaa39fa93caf2025-08-20T01:57:08ZengEndocrinology Research CentreСахарный диабет2072-03512072-03782019-06-0122217017610.14341/DM98768683A clinical case of neonatal diabetes caused by INS gene mutationRosa A. Atanesyan0Tatyana A. Uglova1Tatyana M. Vdovina2Leonid Ya. Klimov3Marina U. Kostanova4Victoriya A. Kuryaninova5Marina V. Stoyan6Lilit S. Alaverdyan7Svetlana V. Dolbnya8<p>Stavropol state medical University; Regional endocrinological dispensary</p><p>Municipal child's clinical hospital of a name of G. K. Filippsky</p><p>Stavropol state medical University</p><p>Stavropol state medical University</p><p>Stavropol state medical University</p><p>Stavropol state medical University; Municipal child's clinical hospital of a name of G. K. Filippsky</p><p>Stavropol state medical University; Municipal child's clinical hospital of a name of G. K. Filippsky</p><p>Stavropol state medical University</p><p>Stavropol state medical University</p>Neonatal diabetes mellitus (NDM) is a severe endocrine pathology diagnosed in children during the first months of life. It comprises rare (1:300 000–1:400 000 newborns) metabolic disorders with postnatal pancreatic β-cell dysfunction, manifested by hyperglycaemia and hypoinsulinaemia. It is currently established that molecular genetic diagnosis of neonatal diabetes forms can influence treatment and prognosis. Interestingly, most identified mutations in the insulin gene are not inherited, but are sporadic. There is evidence that, in addition to heterozygous INS mutations, NDM can be caused by homozygous or compound-heterozygous mutations. The present article presents the clinical case of a girl with NDM associated with an INS gene mutation. INS gene mutations cause permanent diabetes and require children to undergo genetic examination, especially patients with type 1 diabetes in the absence of antibodies. Currently, there are no data that allow to determine a phenotypic and genotypic ‘portrait’ of NDM forms or to explain the factors determining their occurrence. Further studies of clinical cases of neonatal diabetes are therefore required to determine the characteristics of NDM subtypes with subsequent disease prognosis.https://www.dia-endojournals.ru/jour/article/view/9876neonatal diabetespermanent formpump insulin therapy |
| spellingShingle | Rosa A. Atanesyan Tatyana A. Uglova Tatyana M. Vdovina Leonid Ya. Klimov Marina U. Kostanova Victoriya A. Kuryaninova Marina V. Stoyan Lilit S. Alaverdyan Svetlana V. Dolbnya A clinical case of neonatal diabetes caused by INS gene mutation Сахарный диабет neonatal diabetes permanent form pump insulin therapy |
| title | A clinical case of neonatal diabetes caused by INS gene mutation |
| title_full | A clinical case of neonatal diabetes caused by INS gene mutation |
| title_fullStr | A clinical case of neonatal diabetes caused by INS gene mutation |
| title_full_unstemmed | A clinical case of neonatal diabetes caused by INS gene mutation |
| title_short | A clinical case of neonatal diabetes caused by INS gene mutation |
| title_sort | clinical case of neonatal diabetes caused by ins gene mutation |
| topic | neonatal diabetes permanent form pump insulin therapy |
| url | https://www.dia-endojournals.ru/jour/article/view/9876 |
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