A specialized team approach to diagnosis and medical versus surgical treatment of infants with congenital hyperinsulinism

Seminars in Pediatric Surgery

Volumn 20, Issue 1, 2011, Pages 32-37

  Palladino, Andrew A ^a   Stanley, Charles A ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

18F DOPA PET scan; Diazoxide; Hyperinsulinism; KATP channel

Indexed keywords

6 FLUORODOPA F 18; DIAZOXIDE; FUROSEMIDE; GLUCAGON; GLUCOSE; GROWTH HORMONE; HYDROCORTISONE; NIFEDIPINE; OCTREOTIDE;

ABDOMINAL DISCOMFORT; APNEA; ARTICLE; CLINICAL FEATURE; CONGESTIVE HEART FAILURE; CONTINUOUS INFUSION; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DISEASE SEVERITY; DRUG DOSE TITRATION; DRUG TREATMENT FAILURE; EDEMA; ENDOCRINOLOGIST; FEEDING DISORDER; GENE MUTATION; GENETIC ASSOCIATION; GENETICIST; GROWTH HORMONE BLOOD LEVEL; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPERTRICHOSIS; HYPOGLYCEMIA; LETHARGY; MEDICAL SPECIALIST; NECROTIZING ENTEROCOLITIS; NONHUMAN; NURSE PRACTITIONER; PANCREAS ISLET BETA CELL; PANCREAS RESECTION; PATHOLOGIST; PERINATAL STRESS; PEROPERATIVE CARE; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; POSITRON EMISSION TOMOGRAPHY; PREOPERATIVE CARE; PRIORITY JOURNAL; RADIOLOGIST; SEIZURE; SIDE EFFECT; SODIUM RETENTION; SURGEON; SURGICAL APPROACH; TACHYPHYLAXIS; TREATMENT OUTCOME; TREATMENT RESPONSE; WATER RETENTION;

CLINICAL PROTOCOLS; DIAZOXIDE; FLUORINE RADIOISOTOPES; HUMANS; INFANT, NEWBORN; KATP CHANNELS; LEVODOPA; MUTATION; PANCREATECTOMY; PATIENT CARE TEAM; PERIOPERATIVE CARE; PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY; PHILADELPHIA; POSITRON-EMISSION TOMOGRAPHY; RADIOPHARMACEUTICALS; TREATMENT OUTCOME; VASODILATOR AGENTS;

EID: 78650455093     PISSN: 10558586     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.sempedsurg.2010.10.008     Document Type: Article

References (23)

1. 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.
2. Thomas P., Ye Y., Lightner E. Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet 1996, 11:1809-1812.
3. Stanley C.A., Lieu Y.K.Hsu B.Y., et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 1998, 338:1352-1357.
4. Glaser B., Kesavan P., Heyman M., et al. Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med 1998, 338:226-230.
5. Clayton P.T., Eaton S., Aynsley-Green A., et al. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of β-oxidation in insulin secretion. J Clin Invest 2001, 108:457-465.
6. Otonkoski T., Jiao H., Kaminen-Ahola N., et al. Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic β cells. Am J Hum Genet 2007, 81:467-474.
7. Kapoor R.R., Locke J., Colclough K., et al. Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the youth due to heterozygous HNF4A mutations. Diabetes 2008, 57:1659-1663.
8. González-Barroso M.M., Giurgea I., Bouillaud F., et al. Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. PLoS ONE 2008, 3:e3850.
9. Hoe F.M., Thornton P.S., Wanner L.A., et al. Clinical features and insulin regulation in infants with syndrome of prolonged neonatal hyperinsulinism. J Pediatr 2006, 148:207-212.
10. Finegold D.N., Stanley C.A., Baker L. Glycemic response to glucagon during fasting hypoglycemia: an aid in the diagnosis of hyperinsulinism. J Pediatr 1980, 96:257-259.
11. Kelly A., Tang R., Becker S., et al. Poor specificity of low growth hormone and cortisol levels during fasting hypoglycemia for the diagnoses of growth hormone deficiency and adrenal insufficiency. Pediatrics 2008, 122:e522-e528.
12. Laje P., Halaby L., Adzick N.S., et al. Necrotizing enterocolitis in neonates receiving octreotide for the management of congenital hyperinsulinism. Pediatr Diabetes 2010, 11:142-147.
13. Ribeiro M.J., De Lonlay P., Delzescaux T., et al. Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-l-DOPA. J Nucl Med 2005, 46:560-566.
14. Otonkoski T., Näntö-Salonen K., Seppänen M., et al. Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. Diabetes 2006, 55:13-18.
15. Hardy O.T., Hernandez-Pampaloni M., Saffer J.R., et al. Diagnosis and localization of focal hyperinsulinism by 18F-fluorodopa PET scan. J Pediatr 2007, 150:140-145.
16. Hardy O.T., Hernandez-Pampaloni M., Saffer J.R., et al. Accuracy of [18F]-fluorodopa PET for diagnosing and localizing focal congenital hyperinsulinism. J Clin Endocrinol Metab 2007, 92:4706-4711.
17. Dubois J., Brunelle F., Touati G., et al. Hyperinsulinism in children: diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases. Pediatr Radiol 1995, 25:512-516.
18. Stanley C.A., Thornton P.S., Ganguly A., et al. Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation. J Clin Endocrinol Metab 2004, 89:288-296.
19. Suchi M., Thornton P.S., Adzick N.S., et al. Congenital hyperinsulinism: intraoperative biopsy interpretation can direct the extent of pancreatectomy. Am J Surg Pathol 2004, 28:1326-1335.
20. Sempoux C., Guiot Y., Dahan K., et al. The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma. Diabetes 2003, 52:784-794.
21. DeLeón 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.
22. Gloyn A.L., Noordam K., Willemsen M.A., et al. Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations. Diabetes 2003, 52:2433-2440.
23. Cuesta-Munoz A.L., Huopio H., Otonkoski T., et al. Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. Diabetes 2004, 53:2164-2168.