儿童青少年新诊断糖尿病酮症酸中毒临床、遗传学及随访分析

赵武; 马里奥; 孙琦; 杭航; 高科; 刘义

doi:10.13898/j.cnki.issn.1000-2200.2023.03.007

儿童青少年新诊断糖尿病酮症酸中毒临床、遗传学及随访分析

Clinical, genetic and follow-up analysis of newly diagnosed diabetic ketoacidosis in children and adolescents

摘要

摘要:
目的分析儿童青少年新诊断糖尿病酮症酸中毒(DKA)的临床表现、遗传学及随访结局。
方法回顾分析23例DKA患儿的临床和随访资料，自愿接受基因检查者给予二代测序。
结果男6例，女17例，中位年龄10.1岁。1型糖尿病(T1DM)22例，2型糖尿病(T2DM)1例。烦渴多饮多尿22例，呼吸深长16例，腹痛恶心呕吐12例，发热5例，意识障碍12例，休克15例。中位随机血糖25.0 mmol/L(11.48~34.72 mmol/L)，平均糖化血红蛋白13.62%(9.80%~17.40%)，C肽降低22例，平均0.18 ng/mL(0.05~0.37 ng/mL)，平均静脉pH 7.06(6.80~7.23)，糖尿病自身抗体阳性10例。所有患儿给予补液、小剂量胰岛素持续静脉泵入治疗，1例转院，22例抢救成功。DKA纠正后T1DM患儿给予胰岛素治疗，T2DM患儿口服二甲双胍。随访18例，平均随访26.5月(5~57个月)，1例T2DM患儿HbA1c 6.8%，17例T1DM患儿平均HbA1c 8.79%(5.5%~14.4%)，中位C肽0.09 ng/mL(0.05~0.50 ng/mL)，3例T1DM患儿糖尿病自身抗体转阳性。2例T1DM患儿接受二代测序，其中1例PDE11A外显子2存在c.20_21delGA杂合缺失变异，导致阅读框改变，蛋白质截短(p.Arg7ThrfsTer30)，父亲为野生型，母亲为杂合携带。
结论儿童青少年新诊断DKA多见于T1DM，临床表现多样，HbA1c达标率低，PDE11A基因突变可能与T1DM有关。

Abstract:
ObjectiveTo analyze the clinical features, genetics and follow-up outcomes of newly diagnosed diabetic ketoacidosis(DKA) in children and adolescents.
MethodsThe clinical and follow-up data of 23 newly diagnosed DKA patients were retrospectively analyzed.Those who were willing to undergo gene examination were given second-generation sequencing.
ResultsAmong the 23 patients, there were 6 males and 17 females with a median age of 10.1 years.There were 22 cases of type 1 diabetes mellitus(T1DM) and 1 case of type 2 diabetes mellitus(T2DM).There were 22 cases of polydipsia, 16 cases of prolonged breathing, 12 cases of abdominal pain, nausea and vomiting, 5 cases of fever, 12 cases of disturbance of consciousness and 15 cases of shock.The median random blood glucose was 25.0 mmol/L(11.48-34.72 mmol/L), and the mean HbA1c was 13.62%(9.80%-17.40%).The C peptide decreased in 22 cases, the level of which was 0.18 ng/mL(0.05-0.37 ng/mL).The mean of venous pH was 7.06(6.80-7.23), and the diabetes autoantibody in 10 patients were positive.All children were treated with fluid rehydration and continuous intravenous pumping of low-dose insulin.One case was transferred to hospital, and 22 cases were successfully rescued.After DKA correction, T1DM patients were treated with insulin, and T2DM patients were treated with metformin orally.Eighteen patients were followed up for an average of 26.5 months(5-57 months).The HbA1c was 6.8% in 1 patient with T2DM, and 8.79%(5.5%-14.4%) in 17 patients with T1DM.The median C-peptide was 0.09 ng/mL(0.05-0.50 ng/mL).The diabetes autoantibody in 3 T1DM children were positive.The second-generation sequencing in two children with T1DM were performed, the c.20_21delGA heterozygous deletion mutation in exon 2 of PDE11A in 1 cases was found, which leaded to the reading frame changes and protein truncation(p.Arg7ThrfsTer30).The father was wild-type, and the mother was heterozygous carrier.
ConclusionsThe newly diagnosed DKA in children and adolescents is mostly found in T1DM, with various clinical manifestations and low HbA1c compliance rate.The PDE11A gene mutation may be related to T1DM.

HTML全文

参考文献(10)

施引文献

资源附件(0)