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Volume 04 Journal of Clinical Infectious Diseases & Practice
ISSN: 2476-213X Rare Diseases Congress 2019
June 17-18, 2019
June 17-18, 2019 | Berlin, Germany
9th World Congress on
Rare Diseases and Orphan Drugs
Clinical case of congenital hyperinsulinism in infant born by mother with type 2 diabetes
N B Belykh, A Yu Philimonova and A D Bazhenova
Omsk State Medical University, Russian Federation
Relevance: Congenital hyperinsulinism (CHI) is a rare hereditary disease characterized by insulin hypersecretion
and severe persistent hypoglycemia in children.
Aim: The aim of the study is to present a clinical case of CHI in a child born of mother with type 2 diabetes.
Patients & Methods: Analysis of the clinical case and medical documentation.
Results: The girl from the 3rd pregnancy proceeding against the background of type 2 diabetes, 3 preterm births
(35-36 weeks), weigh is 3410 g. After birth, the glycaemia was 0.1 mmol/l and then stabilized (5.0-4.3 mmol/l). In the
first year of life glycaemia was in the range of 3.0-4.0 mmol/l, the neurodevelopment corresponded to the age. At 11
months of age, the level of insulin was 17.4 μE/ml. At the age of one year on the background of a long hungry pause
glycaemia was 1.6 mmol/l; the child became lethargic, convulsions were noted. The girl was urgently hospitalized in
the hospital with suspected CHI. The diagnosis was confirmed in the National Research Center for Endocrinology,
where during the examination the glycaemia was 2.7 mmol/l, insulin-3.78 μE/ml, C-peptide-0.731 ng/ml. On the
background of diazoxide intake in a dose of 5.6 mg/kg/day after a hungry period of 11.5 hours, glycaemia-2.9 mmol/l,
ketonemia-1.1 mmol/l, insulin-1.56 μE/ml. To clarify the variant of the disease is carried out molecular genetic study.
The child was prescribed diazoxide therapy (5.6 mg/kg/day), against which persistent euglycaemia and adequate
insulin suppression are achieved. The girl is currently under the supervision of a pediatrician and endocrinologist
at the place of residence. The tolerability of the therapy is satisfactory. Glycaemia rates correspond to the norm; the
child does not lag behind his peers in neurodevelopment.
Conclusion: The disease manifested itself as a hypoglycemic state on the 2nd day, but later, due to the absence of
signs of hypoglycemia, the condition was regarded as transient. The manifestation at the age of one year required an
in-depth examination of the child, during which the CHI was diagnosed.
Biography
N. B Belykh is a pediatrician. She is working as an Associate Professor in Department of Pediatrics at State Pediatric Medical University, Russia. She published
several articles in many journals.
N B Belykh et al., J Clin Infect Dis Pract 2019, Volume 04