The evolving course of HNF4A hyperinsulinaemic hypoglycaemia-a case series

Diabetic Medicine

Volumn 31, Issue 1, 2014, Pages

  Mcglacken Byrne, S M ^a   Hawkes, C P ^a   Flanagan, S E ^b   Ellard, S ^b   Mcdonnell, C M ^a   Murphy, N P ^a  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

C PEPTIDE; CHLOROTHIAZIDE; DIAZOXIDE; GLUCOSE; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INSULIN;

ARTICLE; CASE REPORT; CASE STUDY; CONGESTIVE HEART FAILURE; ECHOCARDIOGRAPHY; FEBRILE CONVULSION; FEMALE; GLUCOSE BLOOD LEVEL; HIRSUTISM; HUMAN; HYPOGLYCEMIA; INFANT; MACROSOMIA; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ORAL GLUCOSE TOLERANCE TEST; PATENT DUCTUS ARTERIOSUS; PATENT FORAMEN OVALE; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; RESPIRATORY DISTRESS;

AGE OF ONSET; ANTIHYPERTENSIVE AGENTS; BIRTH WEIGHT; BLOOD GLUCOSE; CHILD; CHILD, PRESCHOOL; CONGENITAL HYPERINSULINISM; DIAGNOSIS, DIFFERENTIAL; DIAZOXIDE; FEMALE; FETAL MACROSOMIA; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; HYPOGLYCEMIA; INFANT; MALE; PEDIGREE; PHENOTYPE;

EID: 84890161513     PISSN: 07423071     EISSN: 14645491     Source Type: Journal    
DOI: 10.1111/dme.12259     Document Type: Article

References (20)

1. 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.
2. James C, Kapoor RR, Ismail D, Hussain K. The genetic basis of congenital hyperinsulinism. J Med Genet 2009; 46: 289-299.
3. Kapoor RR, Flanagan SE, James C, Shield J, Ellard S, Hussain K. Hyperinsulinaemic hypoglycaemia. Arch Dis Child 2009; 94: 450-457.
4. Bruun MF, Christoffersen SH, Brusgaard K, Detlefsen S, Christesen HT. Congenital hyperinsulinism-new causes and clinical variations. Ugeskr Laeger 2011; 173: 3026-3031. Review. Dannish.
5. ATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. Eur J Endocrinol 2011; 164: 733-740.
6. Flanagan SE, Kapoor RR, Hussain K. Genetics of congenital hyperinsulinemic hypoglycemia. Semin Pediatr Surg 2011; 20: 13-17.
7. Kapoor RR, Locke J, Colclough K, Wales J, Conn JJ, Hattersley AT, et al. Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. Diabetes 2008; 57: 1659-1663.
8. Kyithar MP, Bacon S, Pannu KK, Rizvi SR, Colclough K, Ellard S, et al. Identification of HNF1A-MODY and HNF4A-MODY in Irish families: phenotypic characteristics and therapeutic implications. Diabetes Metab 2011; 37: 512-519.
9. Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, et al. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med 2007; 4: e118.
10. Flanagan SE, Kapoor RR, Mali G, Cody D, Murphy N, Schwahn B, et al. Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. Eur J Endocrinol 2010; 162: 987-992.
11. Stanescu DE, Hughes N, Kaplan B, Stanley CA, De Leon DD. Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. J Clin Endocrinol Metab 2012; 97: E2026-2030.
12. Fajans SS, Bell GI. Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A). Diabetologia 2007; 50: 2600-2601.
13. Ellard S, Colclough K. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum Mutat 2006; 27: 854-869.
14. Huang T, Kelly A. Hypertrophic cardiomyopathy in neonates with congenital hyperinsulinism. Arch Dis Child Fetal Neonatal Ed 2013; 98: F351-F354.
15. Shield J, Scharfmann R. Development of the pancreas and neonatal diabetes. Endocr Dev 2007; 12: 33-45.
16. Gupta RK, Vatamaniuk M. The MODY1 gene HNF4α regulates selected genes involved in insulin secretion. J Clin Invest 2005; 115: 1006-1015.
17. Miura A, Yamagata K. Hepatocyte nuclear factor 4-alpha is essential for glucose-stimunlated insulin secretion by pancreatic beta-cells. J Biol Chem 2006; 281: 5246-5257.
18. Boj SF, Parrizas M. A transcription factor regulatory circuit in differentiated pancreatic cells. Proc Natl Acad Sci U S A 2001; 98: 14481-14486.
19. Yamagata K, Furata H. Mutations in the hepatocyte nuclear factor 4-alpha gene in maturity-onset diabetes of the young (MODY1). Nature 1996; 384: 458-460.
20. Byrne MM, Sturis J. Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20. Diabetes 1995; 44: 699-704.