Congenital Hyperinsulinism: the Possibilities of Modern Diagnosis and Treatment

Ye.V. Hloba


Congenital hyperinsulinism (CHI) — one of the main causes underlying the development of persistent hypoglycemic conditions in childhood. The article presents the experience of diagnosis and treatment in patients with CHI. We have examined 7 children diagnosed with СHI aged 1 month to 1.5 years. For diagnosing CHI, we have used routine clinical and laboratory investigations, as well as molecular genetic and instrumental diagnostics (18F-DOPA positron emission tomography). Molecular genetic testing confirmed the diagnosis of CHI in 6 children. All 7 children with CHI had various resistance to conservative treatment, had a different degree of psychomotor development and seizures. Of them, 6 children underwent surgery with achievement of normoglycemia. Genetic testing and 18F-DOPA positron emission tomography should be carried out in all children with hypoglycemia and increased or normal levels of C-peptide and insulin to clarify the type of CHI. Further development of genetic diagnostics is necessary to find new CHI genes. Surgical treatment may be a treatment of choice in children with CHI, particularly in its focal form.


congenital hyperinsulinism; hypoglycemia; children; diagnosis and treatment


James C., Kapoor R.R., Ismail D. et al. The genetic basis of congenital hyperinsulinism // J. Med. Genet. — 2009. — 46. — 289-299.

Otonkoski T., Ammala C., Huopio H. et al. A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland // Diabetes. — 1999. — 48. —408-415.

De Leon D.D., Stanley C.A. Mechanisms of disease: advances in diagnosis and treatment of hyperinsulinism in neonates // Nat. Clin. Pract. Endocrinol. Metab. — 2007. — 3. — 57-68.

McQuarrie I. Idiopathic spontaneously occurring hypoglycemia in infants: clinical significance of problem and treatment // AMA Am. J. Dis. Child. — 1954. — 87. — 399-428.

Rahier J., Guiot Y., Sempoux C. Persistent hyperinsulinaemic hypoglycaemia of infancy: a heterogeneous syndrome unrelated to nesidioblastosis // Arch. Dis. Child Fetal. Neonatal. — 2000. — 82. — F108-F112.

Wolfsdorf J.I., Weinstein D.A. Hypoglycemia in Children // Pediatric Endocrinology. — 5th Ed. — NY: Blackwell Munksgaard, 2007. — 1. — 291-327.

Kapoor R.R., Flanagan S.E., James C. et al. Hyperinsulinaemic hypoglycaemia // Arch. Dis. Child. — 2009. — 94. — 450-457.

Kapoor R.R., James C., Hussain K. Advances in the diagnosis and management of hyperinsulinemic hypoglycemia // Nat., Clin. Pract. Endocrinol. Metab. — 2009. — 5, 2. — 101-112.

Thomas P., Ye Y., Lightner E. Mutation of the pancreatic islet inward rectifi er Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy // Hum. Mol. Genet. — 1996. — 5. — 1809-1812.

Thomas P.M., Cote G.J., Wohllk N. et al. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy // Science. — 1995. — 268. — 426-429.

Nestorowicz A., Inagaki N., Gonoi T. et al. A nonsense mutation in the inward rectifi er potassium channel gene, Kir6.2, is associated with familial hyperinsulinism // Diabetes. — 1997. — 46. — 1743-1748.

Dunne M.J., Kane C., Shepherd R.M. et al. Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor // N. Engl. J. Med. — 1997. — 336. — 703-706.

Christesen H.B., Brusgaard K., Beck Nielsen H., Brock Jacobsen B. Non-insulinoma persistent hyperinsulinaemic hypoglycaemia caused by an activating glucokinase mutation: hypoglycaemia unawareness and attacks // Clin. Endocrinol. (Oxford). — 2008. — 68. — 1011.

Hussain K., Blankenstein O., De Lonlay P., Christesen H.T. Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of maintaining normoglycaemia during management // Arch. Dis. Child. — 2007. — 92. — 568-570.

Suchi М., MacMullen С.М., Thornton P.S., Adzick N.S. Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism // Modern Pathology. — 2006. — 19. — 122-129.

Lonlay P., Simon-Carre A., Ribeiro М.-J. et al. Congenital Hyperinsulinism: Pancreatic [18F] Fluoro LDihydroxyphenylalanine (DOPA) Positron Emission Tomography and Immunohistochemistry Study of DOPA Decarboxylase and Insulin // J. Clin. Endocrinol. Metab. — 2006 Mar. — 91 (3). — 933-40.

de Lonlay P., Fournet J.C., Touati G. et al. Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases // Eur. J. Pediatr. — 2002. — 161. — 37-48.

Cherubini V., Bagalini L.S., Ianilli A. et al. Rapid genetic analysis, imaging with 18F-DOPA-PET/CT scan and laparoscopic surgery in congenital hyperinsulinism // J. Pediatr. Endocrinol. Metab. — 2010. — 23 (1–2). — 171-177.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.


© "Publishing House "Zaslavsky", 1997-2019


   Seo анализ сайта