基因中新型纯合 c.7734C>T(p.R228C)突变导致的短暂性新生儿糖尿病的长期随访：青春期前复发。
Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in gene: relapse at prepubertal age.
机构信息
Şanlıurfa Training and Research Hospital, Şanlıurfa, Turkey.
Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
出版信息
J Pediatr Endocrinol Metab. 2022 Feb 28;35(5):695-698. doi: 10.1515/jpem-2021-0538. Print 2022 May 25.
OBJECTIVES
Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes present within the first six months of life. NDM can be transient (TNdM) or permanent (PNDM). About 70% of TNDM cases have abnormalities in the imprinted region of chromosome 6q24. In TNDM, diabetes remits at infancy whilst may relapse later in life. Chromosome 6q24 related TNDM usually relapses at the pubertal period, while in some cases, relapse occurs earlier. It has been reported that these cases can respond to sulfonylurea treatment, while more evidence and experience are needed.
CASE PRESENTATION
Herein, we reported relapse of diabetes at prepubertal age and its response to sulphonylurea therapy in a case with TNDM due to a homozygous c.7734C>T (p.R228C) variant in the gene.
CONCLUSIONS
A response to the sulphonylurea monotherapy seems not optimal for relapsed TNDM due to chromosome 6q24 abnormalities.
目的
新生儿糖尿病（NDM）是一种罕见的单基因糖尿病，发生在生命的前六个月内。NDM 可以是短暂的（TNdM）或永久性的（PNDM）。约 70%的 TNDM 病例在染色体 6q24 的印迹区域存在异常。在 TNDM 中，糖尿病在婴儿期缓解，而在以后的生活中可能会复发。与染色体 6q24 相关的 TNDM 通常在青春期复发，而在某些情况下，复发更早发生。据报道，这些病例对磺酰脲类药物治疗有反应，而需要更多的证据和经验。
病例介绍
在此，我们报告了一例因 基因中的纯合 c.7734C>T（p.R228C）变异导致的 TNDM 在青春期前复发糖尿病，以及对磺酰脲类药物治疗的反应。
结论
对于因染色体 6q24 异常导致的复发 TNDM，磺酰脲类药物单药治疗的反应似乎并不理想。
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