Department of Pediatrics and Adolescent Medicine, Division of Pediatric Endocrinology and Diabetes, Ulm University, Ulm, Germany.
College of Medicine and Health, University of Exeter Medical School, Exeter, UK.
J Pediatr Endocrinol Metab. 2020 Nov 13;34(2):273-276. doi: 10.1515/jpem-2020-0462. Print 2021 Feb 23.
Neonatal diabetes mellitus (NDM) is a rare monogenic diabetes form, occurring mainly from ATP-binding cassette subfamily C member 8 () and mutations. mutations have also been found to cause adult-onset diabetes. What is new?: •Novel mutation in an NDM case •Heterogeneous clinical presentation of diabetes and response to sulfonylurea therapy among family members with the same mutation.
We report the case of a newborn with NDM and a heterozygous novel variant (c.3835G>A), successfully treated with sulfonylurea. The same variant was found in two other family members, already treated for type 2 diabetes.
This case demonstrates the variable phenotypic presentation of diabetes due to a novel mutation (c.3835G>A), ranging from transient NDM to adult-onset, insulin-demanding diabetes, among family members. Genetic testing in young individuals with a strong family history of diabetes, presenting with non-autoimmune diabetes is recommended as it can determine prognosis and treatment of affected family members.
新生儿糖尿病（NDM）是一种罕见的单基因糖尿病形式，主要由 ATP 结合盒亚家族 C 成员 8（ABCC8）和 KCNJ11 基因突变引起。KCNJ11 突变也已被发现可导致成年发病型糖尿病。新发现：•NDM 病例中的新型 KCNJ11 突变•携带相同 KCNJ11 突变的家庭成员中糖尿病的临床表现存在异质性和磺脲类药物治疗反应存在差异。
我们报告了一例新生儿 NDM 伴杂合性新型 KCNJ11 变异（c.3835G>A）的病例，该患儿经磺脲类药物治疗后成功治愈。该变异还存在于另外两名家庭成员中，他们已经接受了 2 型糖尿病的治疗。
该病例表明，由于新型 KCNJ11 突变（c.3835G>A），糖尿病的表型表现存在差异，从短暂的 NDM 到成年发病、需要胰岛素的糖尿病不等，这种差异存在于家庭成员之间。对于有强烈糖尿病家族史且表现为非自身免疫性糖尿病的年轻个体，建议进行基因检测，因为这可以确定受影响家庭成员的预后和治疗。
