| Autor: |
Melikyan MA; Endocrinology Research Centre., Ivannikova TE; Endocrinology Research Centre., Milovanova NV; Research Centre for medical genetics., Kolodkina AA; Endocrinology Research Centre., Bezlepkina OB; Endocrinology Research Centre., Mokryshevа NG; Endocrinology Research Centre. |
| Jazyk: |
ruština |
| Zdroj: |
Problemy endokrinologii [Probl Endokrinol (Mosk)] 2022 Jun 22; Vol. 68 (5), pp. 79-86. Date of Electronic Publication: 2022 Jun 22. |
| DOI: |
10.14341/probl13121 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
|
