新生儿糖尿病因INS基因突变伴母体嵌合体及不典型表现1例。

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-05-12 DOI:10.1055/s-0040-1710341

Varuna Vyas, Deepthi K, Kuldeep Singh

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引用次数: 0

摘要

新生儿糖尿病是一种单基因缺陷，可在出生后6个月内导致糖尿病。我们报告一个孩子谁被诊断为高血糖在13个月的生活和假设有1型糖尿病，并开始使用胰岛素。这个孩子在两岁半的时候来到我们这里。他的血糖控制得特别好。他的病史显示，他的症状是食欲旺盛，体重增加缓慢，从婴儿的后半期开始。基因检测显示INS基因(编码胰岛素的基因)发生杂合突变。该病具有常染色体显性遗传。对父母的测试显示，母亲的淋巴细胞DNA中有7.8%的嵌合性。虽然这并没有改变对患者的管理，但它确实有助于就未来怀孕复发的风险向父母提供咨询。

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A Case of Neonatal Diabetes Mellitus Due to INS Gene Mutation with Maternal Mosaicism and Atypical Presentation.

Neonatal diabetes mellitus is a single gene defect that results in diabetes mellitus in the first 6 months of life. We report a child who was diagnosed to be hyperglycemic at 13 months of life and assumed to have type 1 diabetes mellitus and started on insulin. The child came to us at 2 and 1/2 years of age. He had exceptionally good blood glucose control. His history revealed that he was symptomatic with a voracious appetite and poor weight gain since the second half of infancy. Genetic testing revealed a heterozygous mutation of the INS gene (the gene that codes for insulin). The condition has autosomal dominant inheritance. Testing the parents revealed that the mother had 7.8% mosaicism for this variant in her lymphocyte DNA. Though this did not alter the management of the patient, it did help in counseling the parents regarding risk of recurrence in future pregnancies.

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来源期刊

Journal of pediatric genetics PEDIATRICS-

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期刊介绍： The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.