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BioMed Central, Italian Journal of Pediatrics, 1(40), 2014

DOI: 10.1186/1824-7288-40-58

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Clinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation

Journal article published in 2014 by Maurizio Delvecchio, Rosa Di Paola, Davide Mangiacotti, Michele Sacco, Claudia Menzaghi ORCID, Vincenzo Trischitta ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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.