Congenital Hyperinsulinism in Ukraine: A 10-Year National Study
Author Information
Author(s): Evgenia Globa, Henrik Thybo Christesen, Michael Bau Mortensen, Jayne A. L. Houghton, Anne Lerberg Nielsen, Sönke Detlefsen, Sarah E. Flanagan
Primary Institution: Ukrainian Scientific and Practical Center of Endocrine Surgery, Transplantation of Endocrine Organs and Tissues of MoH of Ukraine
Hypothesis
What are the genetics, clinical phenotype, histological subtype, treatment, and long-term outcomes of Ukrainian patients with congenital hyperinsulinism?
Conclusion
A genetic diagnosis was achieved for 67.5% of the cohort, with subtype-targeted treatment leading to surgical cure in all individuals with focal disease.
Supporting Evidence
- Pathogenic variants were identified in 86.3% of individuals with persistent congenital hyperinsulinism.
- Complete recovery was observed in all patients with focal disease after surgery.
- Genetic testing was performed on 40 out of 41 patients, achieving a diagnosis in 67.5%.
Takeaway
This study looked at children in Ukraine with a condition called congenital hyperinsulinism, which causes low blood sugar. They found that many of these children had a genetic cause for their condition, and surgery helped most of them get better.
Methodology
The study involved recruiting 41 patients with congenital hyperinsulinism to a national registry, conducting genetic testing, imaging, and surgical treatment.
Limitations
Limited data was available for one patient who was lost to follow up.
Participant Demographics
56% female, all patients from Ukraine, diagnosed before 12 months of age.
Statistical Information
P-Value
0.007
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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