Diabetes mellitus associated with the mutation of the ABCC8 gene (MODY 12): features of clinical course and therapy

Maturity-Onset Diabetes of the Young (MODY) is a heterogeneous group of diseases associated with genes mutations leading to dysfunction of pancreatic β-cells. Among the 14 identified MODY variants, MODY 1–5 are the most studied. The article reports a MODY 12 clinical case, with mu...

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Autores principales:	Alla K. Ovsyannikova, Oksana D. Rymar, Elena V. Shakhtshneider, Vadim V. Klimontov, Elena A. Koroleva, Mikhail I. Voevoda
Formato:	article
Lenguaje:	EN RU
Publicado:	Endocrinology Research Centre 2019
Materias:	mody diabetes mutations clinical case abcc8 molecular-genetic investigation sglt2 inhibitors Nutritional diseases. Deficiency diseases RC620-627
Acceso en línea:	https://doaj.org/article/948b836d2f294e77b3cc083993c40b71
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spelling	oai:doaj.org-article:948b836d2f294e77b3cc083993c40b712021-11-14T09:00:22ZDiabetes mellitus associated with the mutation of the ABCC8 gene (MODY 12): features of clinical course and therapy2072-03512072-037810.14341/DM9600https://doaj.org/article/948b836d2f294e77b3cc083993c40b712019-03-01T00:00:00Zhttps://www.dia-endojournals.ru/jour/article/view/9600https://doaj.org/toc/2072-0351https://doaj.org/toc/2072-0378Maturity-Onset Diabetes of the Young (MODY) is a heterogeneous group of diseases associated with genes mutations leading to dysfunction of pancreatic β-cells. Among the 14 identified MODY variants, MODY 1–5 are the most studied. The article reports a MODY 12 clinical case, with mutation in ABCC8, encoding the sulphonylurea receptor. Diabetes mellitus manifested in a 27-year-old man with hyperglycaemia up to 24 mmol/L, without ketosis. Non-proliferative diabetic retinopathy, microalbuminuria, dyslipidaemia and carotid atherosclerosis were revealed upon initial examination. The levels of pancreatic islet cell antibodies and glutamate decarboxylase antibodies were negative, while the level of C-peptide was within the normal range. Insulin therapy in the basal-bolus regimen was provided with a gradual dose reduction due to frequent hypoglycaemia. The preproliferative retinopathy with macular oedema was revealed after 4 months of therapy, and panretinal photocoagulation of both eyes was performed. A molecular genetics study revealed a mutation in the gene ABCC8, the same mutation was found in patient’s mother and uncle. Insulin therapy was cancelled, and the treatment of gliclazide MR 60 mg/day was initiated, which resulted in extreme glycaemic excursions. Thereby, sodium–glucose cotranporter-2 (SGLT2) inhibitor dapagliflozin 10 mg/day was added. A reduction in glucose variability parameters were observed on combination therapy. After 6 months till 1.5 years of treatment, glycaemic control was optimal, no hypoglycaemic episodes were observed. This case study demonstrates clinical features of MODY 12, and the potential of combination of sulfonylurea and SGLT2 inhibitor in the treatment of this disease.Alla K. OvsyannikovaOksana D. RymarElena V. ShakhtshneiderVadim V. KlimontovElena A. KorolevaMikhail I. VoevodaEndocrinology Research Centrearticlemody diabetesmutationsclinical caseabcc8molecular-genetic investigationsglt2 inhibitorsNutritional diseases. Deficiency diseasesRC620-627ENRUСахарный диабет, Vol 22, Iss 1, Pp 88-94 (2019)
institution	DOAJ
collection	DOAJ
language	EN RU
topic	mody diabetes mutations clinical case abcc8 molecular-genetic investigation sglt2 inhibitors Nutritional diseases. Deficiency diseases RC620-627
spellingShingle	mody diabetes mutations clinical case abcc8 molecular-genetic investigation sglt2 inhibitors Nutritional diseases. Deficiency diseases RC620-627 Alla K. Ovsyannikova Oksana D. Rymar Elena V. Shakhtshneider Vadim V. Klimontov Elena A. Koroleva Mikhail I. Voevoda Diabetes mellitus associated with the mutation of the ABCC8 gene (MODY 12): features of clinical course and therapy
description	Maturity-Onset Diabetes of the Young (MODY) is a heterogeneous group of diseases associated with genes mutations leading to dysfunction of pancreatic β-cells. Among the 14 identified MODY variants, MODY 1–5 are the most studied. The article reports a MODY 12 clinical case, with mutation in ABCC8, encoding the sulphonylurea receptor. Diabetes mellitus manifested in a 27-year-old man with hyperglycaemia up to 24 mmol/L, without ketosis. Non-proliferative diabetic retinopathy, microalbuminuria, dyslipidaemia and carotid atherosclerosis were revealed upon initial examination. The levels of pancreatic islet cell antibodies and glutamate decarboxylase antibodies were negative, while the level of C-peptide was within the normal range. Insulin therapy in the basal-bolus regimen was provided with a gradual dose reduction due to frequent hypoglycaemia. The preproliferative retinopathy with macular oedema was revealed after 4 months of therapy, and panretinal photocoagulation of both eyes was performed. A molecular genetics study revealed a mutation in the gene ABCC8, the same mutation was found in patient’s mother and uncle. Insulin therapy was cancelled, and the treatment of gliclazide MR 60 mg/day was initiated, which resulted in extreme glycaemic excursions. Thereby, sodium–glucose cotranporter-2 (SGLT2) inhibitor dapagliflozin 10 mg/day was added. A reduction in glucose variability parameters were observed on combination therapy. After 6 months till 1.5 years of treatment, glycaemic control was optimal, no hypoglycaemic episodes were observed. This case study demonstrates clinical features of MODY 12, and the potential of combination of sulfonylurea and SGLT2 inhibitor in the treatment of this disease.
format	article
author	Alla K. Ovsyannikova Oksana D. Rymar Elena V. Shakhtshneider Vadim V. Klimontov Elena A. Koroleva Mikhail I. Voevoda
author_facet	Alla K. Ovsyannikova Oksana D. Rymar Elena V. Shakhtshneider Vadim V. Klimontov Elena A. Koroleva Mikhail I. Voevoda
author_sort	Alla K. Ovsyannikova
title	Diabetes mellitus associated with the mutation of the ABCC8 gene (MODY 12): features of clinical course and therapy
title_short	Diabetes mellitus associated with the mutation of the ABCC8 gene (MODY 12): features of clinical course and therapy
title_full	Diabetes mellitus associated with the mutation of the ABCC8 gene (MODY 12): features of clinical course and therapy
title_fullStr	Diabetes mellitus associated with the mutation of the ABCC8 gene (MODY 12): features of clinical course and therapy
title_full_unstemmed	Diabetes mellitus associated with the mutation of the ABCC8 gene (MODY 12): features of clinical course and therapy
title_sort	diabetes mellitus associated with the mutation of the abcc8 gene (mody 12): features of clinical course and therapy
publisher	Endocrinology Research Centre
publishDate	2019
url	https://doaj.org/article/948b836d2f294e77b3cc083993c40b71
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Diabetes mellitus associated with the mutation of the ABCC8 gene (MODY 12): features of clinical course and therapy

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