Sirolimus precipitating diabetes mellitus in a patient with congenital hyperinsulinaemic hypoglycaemia due to autosomal dominant ABCC8 mutation
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Antonia Dastamani
Abstract
Background:
Sirolimus (mTOR inhibitor) is proven to be effective in children with congenital hyperinsulinism (CHI). Studies in animals suggest that sirolimus may have diabetogenic actions. However, its role in precipitating diabetes mellitus (DM) in children with CHI has not been reported.
Case presentation:
A 16-year-old female with CHI due to a dominant ABCC8 gene mutation was switched from diazoxide therapy to sirolimus, due to the hypertrichosis side effect of diazoxide. She developed facial cellulitis that was treated with clarithromycin and a month later, once the infection was resolved, she was found to have persistent hyperglycaemia, and was diagnosed with DM. She was unresponsive to oral sulfonylurea therapy and is currently managed with metformin. Her mother, who had the same ABCC8 mutation, developed DM at her 30s.
Conclusions:
Patients with dominant ABCC8 gene mutations are prone to DM in adulthood, but Sirolimus therapy might increase the risk of developing diabetes at an early age, as this case illustrates.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2017 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Mini Review
- Severe complications after initial management of hyperglycemic hyperosmolar syndrome and diabetic ketoacidosis with a standard diabetic ketoacidosis protocol
- Original Articles
- Markers influencing the presence of partial clinical remission in patients with newly diagnosed type 1 diabetes
- Oral health status of children with type 1 diabetes: a comparative study
- The relationship between non-alcoholic fatty liver disease and small intestinal bacterial overgrowth among overweight and obese children and adolescents
- High attainment of optimal nutritional and growth status observed among Greek pediatric cystic fibrosis patients: results from the GreeCF study
- Secular trends in height, weight and body mass index of primary school children in Turkey between 1993 and 2016
- Effects of 1-year growth hormone replacement therapy on thyroid volume and function of the children and adolescents with idiopathic growth hormone deficiency
- Thyroid hormone levels in late preterm, early term and term infants: a study with healthy neonates revealing reference values and factors affecting thyroid hormones
- Makorin ring finger 3 gene analysis in Koreans with familial precocious puberty
- Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families
- Reassessing the significance of the PAH c.158G>A (p.Arg53His) variant in patients with hyperphenylalaninemia
- Case Reports
- Sirolimus precipitating diabetes mellitus in a patient with congenital hyperinsulinaemic hypoglycaemia due to autosomal dominant ABCC8 mutation
- Persistent de Quervain tenosynovitis induced by somatotropin treatment
- Early-onset severe obesity due to complete deletion of the leptin gene in a boy
- Congenital cataract with LSS gene mutations: a new case report
Artikel in diesem Heft
- Frontmatter
- Mini Review
- Severe complications after initial management of hyperglycemic hyperosmolar syndrome and diabetic ketoacidosis with a standard diabetic ketoacidosis protocol
- Original Articles
- Markers influencing the presence of partial clinical remission in patients with newly diagnosed type 1 diabetes
- Oral health status of children with type 1 diabetes: a comparative study
- The relationship between non-alcoholic fatty liver disease and small intestinal bacterial overgrowth among overweight and obese children and adolescents
- High attainment of optimal nutritional and growth status observed among Greek pediatric cystic fibrosis patients: results from the GreeCF study
- Secular trends in height, weight and body mass index of primary school children in Turkey between 1993 and 2016
- Effects of 1-year growth hormone replacement therapy on thyroid volume and function of the children and adolescents with idiopathic growth hormone deficiency
- Thyroid hormone levels in late preterm, early term and term infants: a study with healthy neonates revealing reference values and factors affecting thyroid hormones
- Makorin ring finger 3 gene analysis in Koreans with familial precocious puberty
- Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families
- Reassessing the significance of the PAH c.158G>A (p.Arg53His) variant in patients with hyperphenylalaninemia
- Case Reports
- Sirolimus precipitating diabetes mellitus in a patient with congenital hyperinsulinaemic hypoglycaemia due to autosomal dominant ABCC8 mutation
- Persistent de Quervain tenosynovitis induced by somatotropin treatment
- Early-onset severe obesity due to complete deletion of the leptin gene in a boy
- Congenital cataract with LSS gene mutations: a new case report
