Letter to the editor: congenital hyperinsulinism patient with <i>ABCC8</i> and <i>KCNJ11</i> double heterozygous variants: a case report with 6 years follow-up-Reference-Cited by-同舟云学术

Letter to the editor: congenital hyperinsulinism patient with ABCC8 and KCNJ11 double heterozygous variants: a case report with 6 years follow-up

Published:2024-01-01 Issue:0 Volume:0 Page:
ISSN:0334-018X
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:en
Short-container-title:

Author:

Hui Peipei¹,Chen Congli²,Sang Yanmei²^ORCID

Affiliation:

1. Department of Pediatrics, The Affiliated Hospital of Xuzhou Medical College , Xuzhou Medical College , Xuzhou , China

2. Department of Pediatric Endocrinology, Genetic, and Metabolism, Beijing Children’s Hospital , Capital Medical University, National Center for Children’s Health , Beijing , China

Abstract

Abstract Congenital hyperinsulinism (CHI) with variants in ABCC8 and KCNJ11 is highly correlated with poor responsiveness to diazoxide, a first-line medication of CHI. Currently, there is only one reported case of a patient with CHI due to double heterozygous variants of ABCC8 and KCNJ11. Little is known about the long-term prognosis of the CHI patient with ABCC8 and KCNJ11 double heterozygous variants. Herein, we report a CHI patient with ABCC8 and KCNJ11 double heterozygous variants after 6 years of follow-up.

Funder

Beijing Municipal Science & Technology Commission, Beijing Municipal Natural Science Foundation

Baoding Self-financing Project of Science and Technology Plan

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2023-0445/pdf

Reference7 articles.

1. Hopkins, JJ, Childs, AJ, Houghton, JA, Hewat, TI, Atapattu, N, Johnson, MB, et al.. Hyperinsulinaemic hypoglycaemia diagnosed in childhood can be monogenic. J Clin Endocrinol Metab 2022;108:680–7. https://doi.org/10.1210/clinem/dgac604.

2. Clemente, M, Cobo, P, Antolín, M, Campos, A, Yeste, D, Tomasini, R, et al.. Genetics and natural history of non-pancreatectomised patients with congenital hyperinsulinism due to variants in ABCC8. J Clin Endocrinol Metab 2023;108:e1316-28.

3. Rozenkova, K, Malikova, J, Nessa, A, Dusatkova, L, Bjørkhaug, L, Obermannova, B, et al.. High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism. J Clin Endocrinol Metab 2015;100:E1540–9. https://doi.org/10.1210/jc.2015-2763.

4. Snider, KE, Becker, S, Boyajian, L, Shyng, SL, MacMullen, C, Hughes, N, et al.. Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. J Clin Endocrinol Metab 2013;98:E355–63. https://doi.org/10.1210/jc.2012-2169.

5. Chen, X, Feng, L, Yao, H, Yang, L, Qin, Y. Efficacy and safety of diazoxide for treating hyperinsulinemic hypoglycemia: a systematic review and meta-analysis. PLoS One 2021;16:e0246463. https://doi.org/10.1371/journal.pone.0246463.