Open AccessA clinical case of congenital hyperinsulinism in an early child
Author(s) -
С. Б. Бережанская,
AA Afonin,
Е. А. Папшева,
Н. Н. Вострых,
Г. А. Галкина,
Д. И. Созаева,
Е. А. Лукьянова
Publication year - 2020
Publication title -
medicinskij vestnik ûga rossii
Language(s) - English
Resource type - Journals
eISSN - 2618-7876
pISSN - 2219-8075
DOI - 10.21886/2219-8075-2020-11-3-54-59
Subject(s) - congenital hyperinsulinism , pediatrics , hyperinsulinism , hypoglycemia , medicine , disease , quality of life (healthcare) , intensive care medicine , diabetes mellitus , endocrinology , insulin resistance , nursing
A clinical case of congenital hyperinsulinism, diffuse form, pharmacoresistant course (heterozygous mutation of p. 1361 1363 dup CGG in the GCK gene) in an early child is presented as an example of an orphan severe disease with an extremely unfavorable course and a probability of deterioration of the long-term prognosis. The goal was to highlight the clinical manifestations, course options, and complexity of treatment of this pathology to a wide range of doctors of different specialties in the field of Pediatrics in terms of improving the quality and timeliness of diagnosis, reducing the number of complications with the formation of irreparable consequences. Attention is drawn to the most severe course of hypoglycemic conditions in the early neonatal period, the dependence of the formation of a pronounced neurological deficit on the degree and duration of hypoglycemia, which emphasizes the importance of their timely correction to preserve the quality of life of this contingent of children.