ABSTRACT
Donohue syndrome (DS), also called Leprechaunism, is the most severe form of insulin resistance associated with biallelic mutations in INSR gene (OMIM: 147670). The approximate incidence of this syndrome is 1 per 1000000 births. Patients are present with typical clinical features such as intrauterine growth retardation, facial dysmorphism, severe metabolic disturbances, hepatomegaly and hypertrophic cardiomyopathy. Most DS patients die within the first two years of life due to respiratory infections, severe hypoglycemia or progressive cardiomyopathy. Treatment options are limited and no specific therapy exist for DS. Given the similarities between insulin and insulin-like growth factor 1 (IGF-1) receptors, recombinant human IGF-1 (rhIGF-1) has been used to treat severe insulin resistance including DS.We report the case of a male patient with genetically confirmed Donohue syndrome, successfully treated with continuous subcutaneous IGF1 infusion via insulin pump. We observed improvement of glycemic control, liver function and cardiac hypertrophy regression following 15-month IGF1 therapy.
Subject(s)
Donohue Syndrome , Insulin Resistance , Humans , Male , Donohue Syndrome/complications , Donohue Syndrome/drug therapy , Donohue Syndrome/genetics , Insulin-Like Growth Factor I/therapeutic use , Insulin Resistance/genetics , Receptor, Insulin/genetics , Receptor, Insulin/metabolism , Receptor, Insulin/therapeutic use , Insulin/therapeutic useABSTRACT
Cell cultures isolated by the enzymatic method from the terminal placenta amnion consist mainly from epithelial cells, expressing cytokeratin-7, CD90, and CD73, are characterized by high viability and low proliferative potential. Adhesive cultures of umbilical (Wharton's jelly) cells, despite the fibroblast-like shape of the cells and expression of surface markers, intrinsic to mesenchymal stromal cells, are also characterized by high heterogeneity during the initial stages of culturing, judging by an appreciable share of cytokeratin-expressing cells. The terminal placenta chorionic villi can be a source of cells with the most typical morphology and immunophenotypical profile of the resident multipotent mesenchymal stromal cells, which retain high viability in vitro and have a high proliferative potential.
