Klinik: 

Definition: Als permanenter neonataler Diabetes mellitus (PNDM) wird eine Diabetesform bezeichnet, die sich in den ersten 6 Lebensmonaten manifestiert. Begleitet wird diese Erkrankung von einer antenatalen Wachstumsretardierung, Hyperglykämie, Glukosurie, osmotischer Diurese, Dehydratation und einer Wachstumsverzögerung. Mutationen verschiedener Gene können PNDM hervorrufen. Die Vererbung ist entweder autosomal dominant (KCNJ11 and INS), autosomal dominant oder rezessiv (ABCC8), oder autosomal rezessiv (GCK and PDX1).

Literatur: 

Arthur EI et al. () Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin.
Babenko AP et al. (2006) Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
Colombo C et al. (2008) Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.
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.
Gloyn AL et al. (2006) KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
Gloyn AL et al. (2002) Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
Gloyn AL et al. (2004) Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
Massa O et al. (2005) KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
Njølstad PR et al. (2001) Neonatal diabetes mellitus due to complete glucokinase deficiency.
Pearson ER et al. (2006) Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
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.
Proks P et al. (2006) A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
Shield JP et al. (2000) Neonatal diabetes: new insights into aetiology and implications.
Shimomura K et al. (2007) A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.
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.
Støy J et al. (2007) Insulin gene mutations as a cause of permanent neonatal diabetes.
Suzuki S et al. (2007) Molecular basis of neonatal diabetes in Japanese patients.
Zung A et al. (2004) Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.
Flechtner I et al. (2006) Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences.