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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Autores principales:	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
Formato:	article
Lenguaje:	EN RU
Publicado:	Endocrinology Research Centre 2019
Materias:	neonatal diabetes permanent form pump insulin therapy Nutritional diseases. Deficiency diseases RC620-627
Acceso en línea:	https://doaj.org/article/752e9da87603460985a3aaa39fa93caf
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spelling	oai:doaj.org-article:752e9da87603460985a3aaa39fa93caf2021-11-14T09:00:22ZA clinical case of neonatal diabetes caused by INS gene mutation2072-03512072-037810.14341/DM9876https://doaj.org/article/752e9da87603460985a3aaa39fa93caf2019-06-01T00:00:00Zhttps://www.dia-endojournals.ru/jour/article/view/9876https://doaj.org/toc/2072-0351https://doaj.org/toc/2072-0378Neonatal 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.Rosa A. AtanesyanTatyana A. UglovaTatyana M. VdovinaLeonid Ya. KlimovMarina U. KostanovaVictoriya A. KuryaninovaMarina V. StoyanLilit S. AlaverdyanSvetlana V. DolbnyaEndocrinology Research Centrearticleneonatal diabetespermanent formpump insulin therapyNutritional diseases. Deficiency diseasesRC620-627ENRUСахарный диабет, Vol 22, Iss 2, Pp 170-176 (2019)
institution	DOAJ
collection	DOAJ
language	EN RU
topic	neonatal diabetes permanent form pump insulin therapy Nutritional diseases. Deficiency diseases RC620-627
spellingShingle	neonatal diabetes permanent form pump insulin therapy Nutritional diseases. Deficiency diseases RC620-627 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
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
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
title	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_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_sort	clinical case of neonatal diabetes caused by ins gene mutation
publisher	Endocrinology Research Centre
publishDate	2019
url	https://doaj.org/article/752e9da87603460985a3aaa39fa93caf
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A clinical case of neonatal diabetes caused by INS gene mutation

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