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).
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OMIM.ORG article Omim 606176 |
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Orphanet article Orphanet ID 99885 |