Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations.

Caused by biallelic mutations of the gene encoding the transcription factor Clinical records were analyzed and described in detail. The functional impact of two RFX6 All four patients were small for gestational age (SGA) and prenatally diagnosed with duodenal atresia. They presented with neonatal diabetes early in life and were treated with intravenous insulin therapy before switching to subcutaneous insulin pump therapy. All patients faced recurrent hypoglycemic episodes, exacerbated when parenteral nutrition (PN) was disconnected. A sensor-augmented insulin pump therapy with a predictive low-glucose suspension system was installed with good results. One patient had a homozygous c.1517T>G (p.Val506Gly) mutation, two patients had a homozygous p.Arg181Trp mutation, and one patient presented with new compound heterozygosity. The RFX6 Multidisciplinary and intensive disease management improved the clinical outcomes in four patients with MRS, including adjustment of parenteral/oral nutrition progression and advanced diabetes technologies. A better understanding of

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Copyright © 2022 Passone, Vermillac, Staels, Besancon, Kariyawasam, Godot, Lambe, Talbotec, Girard, Chardot, Berteloot, Hachem, Lapillonne, Poidvin, Storey, Neve, Stan, Dugelay, Fauret-Amsellem, Capri, Cavé, Ybarra, Chandra, Scharfmann, Bismuth, Polak, Carel, Pigneur and Beltrand.

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The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.