Bobadilla MPV, Hinojosa CN, Núñez HJA, Sánchez CJL

Language: Spanish
References: 14
Page: 159-166
PDF size: 299.58 Kb.

ABSTRACT

The hyperinsulinism is the most common cause of persistent hypoglycemia in children (1 to 30,000 or 50,000), first described by Mac Quarrie and also known as leucine sensitive hypoglycaemia, islet dysregulation syndrome and nesidioblastosis. It is associated with mutations in 6 genes: SUR-1, Kir 6.2, glucokinase, glutamate dehydrogenase, 3-hydroxiacil deshidrogenase CoA of short chain and ectopic expression in the pancreatic β cell membrane of SCL16A1. According to the pancreatic histopathology it can be classified in two types of molecular etiology: focal and diffuse. The diffuse presentation of hyperplasia of islets is frequent in child of diabetic mothers for long exposure of the fetus to maternal hyperglycaemia, it also involves all the pancreatic β cells of the whole pancreas and it is resistant to medical treatment (octreotide, diazoxide, calcium antagonists and continuous feeding) may require subtotal pancreatectomy. The diagnosis must be based on evidence of excessive action of insulin and suppression of plasma hydroxybutirate levels and free fatty acids. An inadequate glycemic response to glucagon in the time of hypoglycemia is consistent with the excessive insulin action and is useful in confirming the diagnosis. The objective of the treatment is to avoid brain damages secondary to hypoglycemia and seizures maintaining plasma glucose levels above 70 mg/dL. In diffuse hyperinsulinism hypoglucemia often persists even after pancreatectomy of 95-98% and sometimes resolved in months or years or persists throughout life.

REFERENCES

1. Palladino A, Bennett M, Stanley C. Hiperinsulinismo en lactantes y niños: cuando el nivel de insulina no siempre es suficiente. Clin Chem, 2008; 54: 256-263.

2. Speranza N, Telechea H, Giachetto G, Pirez M. Hiperinsulinismo congénito: revisión de aspectos diagnósticos y terapéuticos. Arch Pediatr Urug, 2008; 79(3): 221-228.

3. Fernández LJ, Fernández MJ, Barreiro M. Perspectivas actuales en el tratamiento del hiperinsulinismo congénito. Acta Pediatr Esp, 2009; 67(3): 103-111.

4. Arnoux JB, de Lonlay P, Ribeiro MJ, Hussain K, Blankenstein O, Mohnike K, Valayannopoulos V et al. Congenital hyperinsulinism. Early Hum Dev, 2010; 86: 287-294.

5. Cosgrove K et al. Genetics and pathophysiology of hyperinsulinism in infancy. Horm Res, 2004; 61: 270-288.

6. Aynsley-Green A. Practical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal Ed, 2000; 82: 98-107.

7. Cotran R, Kumar V, Collins T. Patología estructural y funcional, 6ª ed. México: McGraw-Hill Interamericana, 2000: 966-967.

8. Hay W, Levin M et al. Diagnóstico y tratamiento pediátricos. 18ª ed. México: Mc Graw-Hill Interamericana, 2008: 957-959.

9. Kaleva N. Hyperinsulinemic hypoglycemias in infancy and childhood diagnostic therapeutic algorithm with contribution of two cases. Folia Medica, 2010; 52(3): 62-69.

10. Ismail D, Hussain K. Role of 18F-DOPA PET/CT imaging in congenital hyperinsulinism. Rev Endocr Metab Disord, 2010; 11: 165-169.

11. Stanley C. Advances in diagnosis and treatment of hyperinsulinism in infants and children. JCEM, 2002; 87(11): 4857-4859.

12. Bahi-Buisson N, Roze E, Dionisi C, Escande F, Valayannopoulos V, Feillet F et al. Neurological aspect of hyperinsulinism-hyperammonemia syndrome. Developmental medicine & child neurology, 2008; 50: 945-949.

13. Valayannopoulos V, Vaxillaire M, Aigrain Y, Jaubert F, Bellanné-Chantelot C, Ribeiro MJ et al. Coexistence in the same family of both focal and diffuse forms of hyperinsulinism. Diabetes Care, 2007; 30 (6): 1590-1592.

14. Palladino AA, Stanley CA. The hyperinsulinism/hyperammonemia syndrome. Rev Endocr Metab Disord, 2010; 11: 171-178.