Mild Congenital Hyperinsulinism Caused by Mutation in Human Glucokinase Gene.

Autor:	Sozaeva LS; Endocrinology Research Centre, Moscow, 117036, Russian Federation., Ismailova SK; Endocrinology Research Centre, Moscow, 117036, Russian Federation., Chernyak IY; Children's Regional Clinical Hospital, Krasnodar, 350007, Russian Federation., Popov SV; Endocrinology Research Centre, Moscow, 117036, Russian Federation., Zakharova VV; Endocrinology Research Centre, Moscow, 117036, Russian Federation., Chugunov IS; Endocrinology Research Centre, Moscow, 117036, Russian Federation.
Jazyk:	angličtina
Zdroj:	JCEM case reports [JCEM Case Rep] 2024 Dec 04; Vol. 2 (12), pp. luae226. Date of Electronic Publication: 2024 Dec 04 (Print Publication: 2024).
DOI:	10.1210/jcemcr/luae226
Abstrakt:	Congenital hyperinsulinism (CHI) is a rare hereditary disease characterized by the development of hypoglycemia in both infants and adult patients. CHI may be induced by activating mutations in the glucokinase ( GCK ) gene, which encodes the human glucokinase enzyme. This form of the disease is characterized by considerable phenotypic heterogeneity and may vary in severity of its course. We present a familial case report of mild CHI caused by a novel variant, c.212T > C (p.Val71Ala), in the GCK gene in a 41-year-old mother and a 15-year-old daughter. The clinical picture of hypoglycemia in the patients was not pronounced, which makes this clinical case remarkable. Moreover, a variant of uncertain clinical significance, с.1903G > A (p.Ala635Thr), in the ABCC8 gene was detected, which may also have contributed to the course of the disease in these patients. (© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society.)
Databáze:	MEDLINE
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