Clinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation
2014
We describe a diabetic child and her relatives carrying the HNF4A R311H mutation. The proband was diagnosed with insulin-dependent diabetes when 9.1 year-old. Three weeks later, a complete remission occurred. She underwent genetic testing showing the HNF4A-R311H mutation, which was found also in the brother (with impaired glucose tolerance), the mother (with gestational diabetes), and the maternal uncle (with type 2 diabetes). This case suggests that the HNF4A R311H mutation may play a role on hyperglycaemia since childhood and may be associated with clinical heterogeneity of abnormal glucose homeostasis. Transient diabetes might warrant the screening for MODY when indicated.
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