Wolcott-Rallison综合征:三个患者的病例系列。

Q3 Medicine
Fozia Memon, Muzna Arif, Salman Kirmani, Khadija Humayun
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引用次数: 0

摘要

新生儿糖尿病是一种罕见疾病,发病率估计为30万分之一至40万分之一。walcottt - rallison综合征被认为是近亲家族中由真核翻译起始因子2-α激酶3 (EIF2AK3)突变引起的永久性新生儿糖尿病的最常见原因,其特征是永久性新生儿糖尿病伴有肝功能障碍、多发性骨骺发育不良和发育迟缓。我们在此报告3例遗传证明Wolcott-Rallison综合征与可变表型表现。病例系列:所有病例均表现为高血糖水平并接受胰岛素治疗。遗传分析均发现EIF2AK3纯合突变。对相关合并症的初步筛查测试是正常的,包括x线检查,所有病例均未显示任何骨骺发育不良的迹象。病例2和病例3均未能随访,后来在其所在城镇的医院分别因肝功能衰竭与并发呼吸道疾病死亡,分别在18个月和2岁时死亡。病例1现在2岁,在儿科内分泌和神经病学诊所定期随访,到目前为止情况良好。结论:WRS新生儿糖尿病患儿的发病率和死亡率都很高。对6个月前确诊的糖尿病患者进行基因突变筛查是至关重要的。由于有急性低血糖和酮症酸中毒发作的风险,建议在WRS中密切监测治疗。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Wolcott-Rallison syndrome: a case series of three patients.

Introduction: Neonatal diabetes is a rare disease with incidence estimated at 1 in 300,000 to 1 in 400,000 live births. Walcott-Rallison syndrome has been identified as the most common cause of permanent neonatal diabetes in consanguineous families caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3), characterized by permanent neonatal diabetes associated with liver dysfunction, multiple epiphyseal dysplasia, and developmental delay. We herein report 3 cases of genetically proven Wolcott-Rallison syndrome with variable phenotype presentation.

Case series: All cases presented with high glucose levels and were treated with insulin. EIF2AK3 homozygous mutation was identified in all 3 on genetic analysis. Initial screening testing for associated comorbidities was normal, including X-ray examination, which did not show any signs of epiphyseal dysplasia in all cases. Case 2 and case 3 were both lost to follow-up and were later found to have expired at the ages of 18 months and 2 years, respectively, due to liver failure associated with intercurrent respiratory illness in hospitals in their native towns. Case one is now 2 years old on regular follow-up in paediatric Endocrine and neurology clinics and doing well so far.

Conclusions: Morbidity, as well as mortality, is high among children with WRS neonatal diabetes. It is crucial to screen for gene mutation in patients with diabetes diagnosed before 6 months. Close therapeutic monitoring is recommended in WRS because of the risk of acute episodes of hypoglycaemia and ketoacidosis.

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来源期刊
Pediatric Endocrinology, Diabetes and Metabolism
Pediatric Endocrinology, Diabetes and Metabolism Medicine-Pediatrics, Perinatology and Child Health
CiteScore
2.00
自引率
0.00%
发文量
36
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