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Identification of GCK-maturity-onset diabetes of the young in cases of neonatal hyperglycemia: A case series and review of clinical features
Pediatric Diabetes ( IF 3.4 ) Pub Date : 2021-06-04 , DOI: 10.1111/pedi.13239
Alice E Hughes 1 , Elisa De Franco 1 , Evgenia Globa 2 , Nataliya Zelinska 2 , Dörte Hilgard 3 , Popi Sifianou 4 , Andrew T Hattersley 1 , Sarah E Flanagan 1
Affiliation  

Heterozygous mutations in GCK result in a persistent, mildly raised glucose from birth, but it is usually diagnosed in adulthood as maturity-onset diabetes of the young (MODY), where hyperglycemia is often an incidental finding. The hyperglycemia of GCK-MODY is benign and does not require treatment, but is important to be aware of, particularly in females where it has implications for managing pregnancy. We present three cases of neonatal hyperglycemia resulting from a heterozygous mutation in GCK, illustrating its clinical presentation and evolution in early life. In summary, as with adults, neonatal hyperglycemia is an incidental finding, does not require treatment and has no adverse consequences for health. Neonates and their parents should be referred for genetic testing to confirm the diagnosis, avoid a label of diabetes and enable pregnancy counseling for females found to be affected.

中文翻译:

新生儿高血糖病例中 GCK 成熟型糖尿病的鉴定:病例系列和临床特征回顾

GCK中的杂合突变导致出生时血糖持续轻度升高,但通常在成年期被诊断为青少年成年发病型糖尿病 (MODY),其中高血糖症通常是偶然发现的。GCK-MODY 的高血糖是良性的,不需要治疗,但重要的是要注意,特别是在对妊娠管理有影响的女性中。我们介绍了三例由GCK杂合突变引起的新生儿高血糖症,说明其在生命早期的临床表现和演变。总之,与成人一样,新生儿高血糖是偶然发现的,不需要治疗,对健康没有不良影响。应将新生儿及其父母转介进行基因检测以确认诊断,避免被贴上糖尿病标签,并为发现受影响的女性提供妊娠咨询。
更新日期:2021-06-04
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