A novel mutation associated with congenital hyperinsulinism

American Journal of Perinatology

Volumn 24, Issue 7, 2007, Pages 401-404

  Natarajan, Girija ^a,b   Aggarwal, Sanjeev ^b   Merritt, T Allen ^c  

^a WAYNE STATE UNIVERSITY   (United States)

^b CHILDREN'S HOSPITAL OF MICHIGAN   (United States)

^c LOMA LINDA UNIVERSITY CHILDREN S HOSPITAL   (United States)

Author keywords

Genetic; Hyperinsulinism; Hypoglycemia; Mutation

Indexed keywords

DIAZOXIDE; GLUCAGON; OCTREOTIDE;

ABCC8 GENE; ARTICLE; CASE REPORT; DRUG DOSE INCREASE; ECHOCARDIOGRAPHY; GENE; GENE MUTATION; GENETIC ANALYSIS; HEART VENTRICLE HYPERTROPHY; HUMAN; HYPERTRICHOSIS; HYPOGLYCEMIA; LARGE FOR GESTATIONAL AGE; MALE; MISSENSE MUTATION; NEWBORN; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PHENOTYPE; PRIORITY JOURNAL;

ATP-BINDING CASSETTE TRANSPORTERS; HUMANS; HYPOGLYCEMIA; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY; POTASSIUM CHANNELS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG;

EID: 34547909292     PISSN: 07351631     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-984408     Document Type: Article

References (20)

1. Schaefer-Graf UM, Rossi R, Buhrer C, et al. Rate and risk factors of hypoglycemia in large-for-gestational-age newborn infants of non-diabetic mothers. Am J Obstet Gynecol 2002;187:913-917
2. Holtrop PC. The frequency of hypoglycemia in full-term large and small for gestational age newborns. Am J Perinatol 1993;10:150-154
3. Jones KL. Smith's Recognizable Patterns of Human Malformations. 6th ed. Philadelphia: Saunders; 2006
4. Otonkoski T, Nanto-Salonen K, Seppanen M, et al. Non-invasive diagnosis of focal hyperinsulinism of infancy with 18 F DOPA positron emission tomography. Diabetes 2006;55:13-18
5. Hussain K, Hindmarsh P, Aynsley-Green A. Neonates with symptomatic hyperinsulinemic hypoglycemia generate inappropriately low serum Cortisol counterregulatory hormonal responses. J Clin Endocrinol Metab 2003;88:4342-4347
6. Touati G, Poggi-Travert F, Ogier de Baulny H, et al. Long term treatment of persistent hyperinsulinemic hypoglycemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria. Eur J Pediatr 1998;157:628-633
7. Aynsley-Green A, Hussain K, Hall J, et al. Practical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal Ed 2000;82:98-107
8. de Lonlay P, Giurgea I, Sempoux C, et al. Dominantly inherited hyperinsulinemic hypoglycemia. J Inherit Metab Dis 2005;28:267-276
9. Fournet JC, Junien C. Genetics of congenital hyperinsulinism. Endocr Pathol 2004;15:233-240
10. Meissner T, Beinbreach B, Mayatepek E. Congenital hyperinsulinism: molecular basis of a heterogenous disease. Hum Mutat 1999;13:351-361
11. Ohkubo K, Nagashima M, Naito Y, et al. Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycemia of infancy. Clin Endocrinol (Oxf) 2005;62:458-465
12. Fernandez-Marmiesse A, Salas A, Vega A, Fernandez-Lorenzo JR, Barreiro J, Carracedo A. Mutation spectra of ABCC8 gene in Spanish patients with hyperinsulinism of infancy (HI). Hum Mutat 2006;27:214
13. Hussain K, Cosgrove KE. From congenital hyperinsulinism to diabetes mellitus: the role of pancreatic beta-cell KATP channels. Pediatr Diabetes 2005;6:103-113
14. Huopio H, Otonkoski T, Vauhkonen I, Reimann F, Ashcroft FM, Laakso M. A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1. Lancet 2003;361:272-273
15. Mehta A, Hussain K. Transient hyperinsulinism associated with macrosomia, hypertrophic obstructive cardiomyopathy, hepatomegaly and nephromegaly. Arch Dis Child 2003;88:822-824
16. Massin MM, Van Elmbt G, Soyeur D. Reversible hypertrophic cardiomyopathy in congenital hyperinsulinism. Acta Cardiol 1999;54:359-361
17. Breitweser JA, Meyer RA, Sperling MA, Tsang RC, Kaplan S. Cardiac septal hypertrophy in hyperinsulinemic infants. J Pediatr 1980;96:535-539
18. Steinkrauss L, Lipman TH, Hendell CD, Gerdes M, Thornton PS, Stanley CA. Effects of hypoglycemia on developmental outcome in children with congenital hyperinsulinism. J Pediatr Nurs 2005;20:109-118
19. Menni F, de Lonlay P, Sevin C, et al. Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia. Pediatrics 2001;107:476-479
20. De Leon DD, Stanley CA. Mechanisms of disease: advances in diagnosis and treatment of hyperinsulinism in neonates. Nat Clin Pract Endocrinol Metab 2007;3:57-68