insulin-dependent diabetes mellitus type 20

insulin-dependent diabetes mellitus type 20

A disorder (OMIM:612520) of glucose homeostasis, which is characterised by susceptibility to ketoacidosis in the absence of insulin therapy.

Clinical findings
Polydipsia, polyphagia and polyuria due to hyperglycaemia-induced osmotic diuresis and secondary thirst. Long-term diabetic complications affect the eyes, kidneys, nerves and blood vessels.

Molecular pathology
Defects in HNF1A, which encodes a transcription activator that regulates tissue-specific expression of multiple genes, cause diabetes mellitus insulin-dependent type 20.
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