hrp0086p2-p290 | Diabetes P2 | ESPE2016

Wolcott-Rallison Syndrome: Clinical Case Presentation

Furdela Viktoriya , Pavlishin Halina

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease characterised by neonatal/earlier-onset non-immune insulin –requiring diabetes associated with skeletal dysplasia and growth retardation. WRS is caused by mutations in the gene encoding eukaryoutic translation initiation factor 2 a kinase (EIF2AK3), which plays a key role in translation control during the unfolded protein response. In the endocrinological department of Ternopil Childrens’ Hospital ...