未经证实:新生儿糖尿病(NDM)是一种罕见的糖尿病形式。我们分析了一名中国永久性新生儿糖尿病(PNDM)患者的新胰岛素基因(INS)突变,以探讨其临床和遗传特征,并对治疗和长期管理提出了一些意见。
UNASSIGNED:招募了一名先证者,他在出生后的第一天就被诊断出患有永久性新生儿糖尿病。他的临床和随访数据收集了10年。对所有家庭成员进行口服葡萄糖耐量试验。对先证者进行全外显子组测序,并利用第一代Sanger测序技术对家族成员的基因组DNA进行验证。根据美国医学遗传学和基因组学学会分类指南和患者的临床表型筛选致病变异体。
未经证实:先证者在出生后的第一天被确诊,呈现低出生体重,进行性高血糖,胰岛素缺乏。他的父母和祖父被证实血糖水平正常。在先证中检测到INS基因c.1T>C的新纯合突变,位于起始密码子。在四个家族成员中发现了杂合突变,包括他的母亲,父亲,和祖父。定期注射胰岛素,长期定期随访,密切监测血糖,均衡的运动和饮食,以及心理和家庭互助,血糖水平得到了很好的控制;在这十年中没有急性或慢性并发症。患者的成长和神经系统发育现在与同龄者没有什么不同。
UNASSIGNED:在中国,患有INS基因新突变的永久性新生儿糖尿病(PNDM)患者预后良好。目前的研究结果表明,基因诊断,早期使用胰岛素,密切监测血糖,INS突变患者的心理和家庭互助对其良好的长期预后是必要的。
Neonatal diabetes mellitus (NDM) is a rare form of diabetes. We analyzed a novel insulin gene (
INS) mutation of a Chinese permanent neonatal diabetes mellitus (PNDM) patient to explore the clinical and genetic characteristics and put forward some opinions on treatment and its long-term management.
A proband was recruited who was diagnosed with permanent neonatal diabetes on his first day after birth. His clinical and follow-up data were collected for 10 years. All of the family members were given an oral glucose tolerance test. Whole exome sequencing was performed on the proband, and the genomic DNA of family members was used for verification by first-generation Sanger sequencing technology. The pathogenic variant was screened according to the American College of Medical Genetics and Genomics classification guidelines and the clinical phenotype of the patient.
The proband was diagnosed on the first day after birth, presenting with low birth weight, progressive hyperglycemia, and insulin deficiency. His parents and grandfathers were confirmed to have normal blood sugar levels. A novel homozygous mutation of c.1T>C in the
INS gene was detected in the proband, located in the initiation codon. The heterozygous mutations were found in four family members, including his mother, father, and grandfathers. With regular insulin injections, long-term regular follow-up, close monitoring of blood glucose, balanced exercise and diet, and psychological and mutual family support, the blood glucose level was well controlled; there were no acute or chronic complications during this decade. The patient\'s growth and nervous system development are now no different to those of the same age.
A favorable prognosis is presented for a permanent neonatal diabetes mellitus (PNDM) patient with a novel mutation in the
INS gene in China. The present findings indicate that the genetic diagnosis, early use of insulin, close monitoring of blood glucose, and psychological and mutual family support for patients with
INS mutation are necessary for their favorable long-term prognosis.