Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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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
Leprechaunismus
Mitchell-Riley-Syndrom
Neonataler Diabetes mellitus mit angeborener Hypothyreose
Nierenzysten und Diabetes (RCAD)
Pankreopriver Diabetes mellitus
Permanenter neonataler Diabetes mellitus
ABCC8
DEND-Syndrom
KCNJ11
GCK
INS
KCNJ11
Phosphoribosylpyrophosphat-Synthetase-Überaktivität
PRPS1
Wolcott-Rallison-Syndrom
EIF2AK3
Rabson-Mendenhall-Syndrom
Transienter neonataler Diabetes mellitus 1
Transienter neonataler Diabetes mellitus 2
Transienter neonataler Diabetes mellitus 3
X-chromosomale Immundysregulation, Polyendokrinopathie und Enteropathie

Referenzen:

1.

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

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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.

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3.

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

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4.

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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5.

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

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6.

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

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7.

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

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8.

None (2000) Neonatal diabetes: new insights into aetiology and implications.

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9.

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

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10.

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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11.

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

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12.

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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13.

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

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14.

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

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15.

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

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16.

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

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17.

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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18.

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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19.

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

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20.

OMIM.ORG article

Omim 606176 external link
21.

Orphanet article

Orphanet ID 99885 external link
Update: 14. August 2020
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