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A clinical case of neonatal diabetes caused by INS gene mutation

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Abstract


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.


Rosa A. Atanesyan

Stavropol state medical University; Regional endocrinological dispensary

Author for correspondence.
Email: roza.atanesyan@yandex.ru
ORCID iD: 0000-0001-5811-0024
SPIN-code: 8508-1027
http://www.stgmu.ru/

Russian Federation, 310, Mira street, Stavropol, 355017; 127, Dzerzhinskogo str., Stavropol, Stavropol Region, 355035

MD, PhD, assistant

Tatyana A. Uglova

Municipal child's clinical hospital of a name of G. K. Filippsky

Email: uglova@mail.ru
ORCID iD: 0000-0003-4934-929X
SPIN-code: 8257-2477

Russian Federation, 355012, Stavropol, st. Ponomarova 5a

MD

Tatyana M. Vdovina

Stavropol state medical University

Email: vdovina.71.71@mail.ru
ORCID iD: 0000-0002-0355-3116

Russian Federation, 310, Mira street, Stavropol, 355017

MD, PhD

Leonid Ya. Klimov

Stavropol state medical University

Email: klimov_leo@mail.ru
ORCID iD: 0000-0001-7248-1614
SPIN-code: 5396-7746

Russian Federation, 310, Mira street, Stavropol, 355017

MD, PhD, associate professor

Marina U. Kostanova

Stavropol state medical University

Email: marka3010@yandex.ru
ORCID iD: 0000-0003-4402-8331
SPIN-code: 7257-7260

Russian Federation, 310, Mira street, Stavropol, 355017

MD

Victoriya A. Kuryaninova

Stavropol state medical University; Municipal child's clinical hospital of a name of G. K. Filippsky

Email: vichkak@mail.ru
ORCID iD: 0000-0002-0731-7153
SPIN-code: 6261-1238

Russian Federation, 310, Mira street, Stavropol, 355017; 355012, Stavropol, st. Ponomarova 5a

MD, PhD, assistant

Marina V. Stoyan

Stavropol state medical University; Municipal child's clinical hospital of a name of G. K. Filippsky

Email: marina-stoyan@mail.ru
ORCID iD: 0000-0002-7390-6204
SPIN-code: 7835-8760

Russian Federation, 310, Mira street, Stavropol, 355017; 355012, Stavropol, st. Ponomarova 5a

MD, PhD, assistant

Lilit S. Alaverdyan

Stavropol state medical University

Email: samvelovnaa@mail.ru
ORCID iD: 0000-0001-7641-4267
SPIN-code: 6987-5163

Russian Federation, 310, Mira street, Stavropol, 355017

MD, assistant

Svetlana V. Dolbnya

Stavropol state medical University

Email: svet-lana.dolbnya@yandex.ru
ORCID iD: 0000-0002-2056-153X
SPIN-code: 7835-8760

Russian Federation, 310, Mira street, Stavropol, 355017

MD, PhD

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Supplementary files

Supplementary Files Action
1. Fig. 1. Regulation of insulin secretion by pancreatic β-cells: SUR - sulfonylurea receptor; PSM - sulfonylurea drug; ATP - adenosine triphosphate; ADP - adenosine diphosphate. View (293KB) Indexing metadata

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Copyright (c) 2019 Atanesyan R.A., Uglova T.A., Vdovina T.M., Klimov L.Y., Kostanova M.U., Kuryaninova V.A., Stoyan M.V., Alaverdyan L.S., Dolbnya S.V.

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