Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Permanenter neonataler Diabetes mellitus

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).

Gliederung

Neonataler Diabetes mellitus
Mitchell-Riley-Syndrom
Neonataler Diabetes mellitus mit angeborener Hypothyreose
Permanenter neonataler Diabetes mellitus
ABCC8
DEND-Syndrom
KCNJ11
GCK
INS
KCNJ11
PDX1
Transienter neonataler Diabetes mellitus 1
Transienter neonataler Diabetes mellitus 2
Transienter neonataler Diabetes mellitus 3

Referenzen:

1.

Njølstad PR et. al. (2001) Neonatal diabetes mellitus due to complete glucokinase deficiency.

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2.

Støy J et al. (2007) Insulin gene mutations as a cause of permanent neonatal diabetes.

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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.

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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.

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5.

Colombo C et al. (2008) Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.

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6.

Suzuki S et al. (2007) Molecular basis of neonatal diabetes in Japanese patients.

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7.

Proks P et al. (2006) A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

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8.

Babenko AP et al. (2006) Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

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9.

Gloyn AL et al. (2004) Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

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10.

Massa O et al. (2005) KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

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11.

Gloyn AL et al. (2006) KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

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12.

Shimomura K et al. (2007) A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

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13.

Shield JP et al. (2000) Neonatal diabetes: new insights into aetiology and implications.

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14.

Gloyn AL et al. (2002) Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.

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15.

Zung A et al. (2004) Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.

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16.

Pearson ER et al. (2006) Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

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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.

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18.

Arthur EI et al. () Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin.

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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.

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