CODE Think！STX3的罕见突变导致微绒毛包涵体病

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2023-08-10 eCollection Date: 2023-12-01 DOI:10.1055/s-0043-1772207

Elizabeth Mary John, Sajina Sathyan, Femitha Pournami, Ajai Kumar Prithvi, Anand Nandakumar, Jyothi Prabhakar, Naveen Jain

引用次数: 0

摘要

先天性腹泻和肠病(CODEs)是罕见的腹泻疾病，以婴儿起病。基于重叠的初步症状，这些患病婴儿在被临床医生认为是CODE之前，经常被调查更常见的疾病，如败血症、肝炎和先天性代谢错误。我们以前报道过一个婴儿严重营养不良，不能茁壮成长。在接受了元素氨基酸配方、罗斯无碳水化合物(þ果糖)饮食试验和肠外营养试验后，经过数周的重症监护，婴儿死于疾病。新一代测序(NGS)的临床外显子组显示，在STX3基因的第9外显子上有一个碱基对插入，导致微绒毛包涵性疾病(MVID)。确诊后，家人寻求了富有同情心的护理。此外，据报道，通过桑格测序，父母双方都是致病突变的杂合携带者。此外，另一名受影响婴儿的病例报告进一步支持了上述STX3突变导致严重CODE的说法。第二个病例是多器官功能障碍综合征(肝功能衰竭，腹水，营养不良，电解质障碍，以及产前code的线索，即羊水过多和肠回声)。调查显示胎儿-新生儿腹泻与先前病例相似。婴儿大便渗透性间隙

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CODE Think! Rare Mutations of STX3 Causing Microvillus Inclusion Disease.

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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.