Neonataler Diabetes mellitus
Die Gruppe von Erkrankungen, die als neonataler Diabetes mellitus zusammengefasst werden, manifestieren sich in der pränatalperiode oder innerhalb der ersten 6 Monate nach der Geburt. Transiente und permanente formen können unterschieden werden.
Gliederung
Referenzen:
1. |
Njølstad PR et. al. (2001) Neonatal diabetes mellitus due to complete glucokinase deficiency. [^] |
2. |
Støy J et al. (2007) Insulin gene mutations as a cause of permanent neonatal diabetes. [^] |
3. |
Edghill EL et al. (2008) Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. [^] |
4. |
Polak M et al. (2008) Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group. [^] |
5. |
Colombo C et al. (2008) Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus. [^] |
6. |
Suzuki S et al. (2007) Molecular basis of neonatal diabetes in Japanese patients. [^] |
7. |
Proks P et al. (2006) A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. [^] |
8. |
Babenko AP et al. (2006) Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. [^] |
9. |
Gloyn AL et al. (2004) Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. [^] |
10. |
Massa O et al. (2005) KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. [^] |
11. |
Gloyn AL et al. (2006) KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. [^] |
12. |
Shimomura K et al. (2007) A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. [^] |
13. |
Shield JP et al. (2000) Neonatal diabetes: new insights into aetiology and implications. [^] |
14. |
Gloyn AL et al. (2002) Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. [^] |
15. |
Zung A et al. (2004) Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2. [^] |
16. |
Pearson ER et al. (2006) Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. [^] |
17. |
Stanik J et al. (2007) Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. [^] |
18. |
Arthur EI et al. () Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin. [^] |
19. |
Flechtner I et al. (2006) Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences. [^] |