Hereditary Multiple Intestinal Atresia With a Novel TTC7A Pathogenic Variant: Gastrointestinal Manifestations in Two Cases.

IF 1.3 4区 医学 Q3 PATHOLOGY
Mohamed Abouseif Badawi, Amal Alkhoori, Anoud Saeed Alkaabi, Mona Khalaf, Hayam Mohamed, Saeeda Almarzooqi
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引用次数: 0

Abstract

Hereditary multiple intestinal atresia (HMIA) with TTC7A mutation is caused by homozygous or compound heterozygous TTC7A gene mutation. It is characterized by multiple small and large intestinal atresias and/or stenoses. TTC7A mutation is described in some patients with inflammatory bowel disease and mild-severe forms of severe combined immunodeficiency without intestinal atresia or stenosis. We present 2 cases of intestinal atresia and documented TTC7A mutation with a novel variant. Both cases had different clinical and pathological manifestations. The first case is a male infant born at 35 weeks of gestation with failure to pass meconium. Intestinal biopsy reveals apoptotic enteropathy with villous atrophy and increased mucosal eosinophils. The second case is referred at birth for antenatally detected umbilical hernia, polyhydramnios and possible upper intestinal obstruction. The resected specimen reveals ileal atresia with partial villous atrophy, decreased number of lamina propria inflammatory cells and absence of plasma cells. In conclusion, these cases reflect an emerging TTC7A pathogenic variant with different histological manifestations and leads to characterization as immune dysregulation disorder. There is a need to differentiate TTC7A mutation associated ones from cases labeled as very early onset IBD and rule out other hereditary immunodeficiencies.

带有新型 TTC7A 致病变体的遗传性多发性肠闭锁:两个病例的胃肠道表现
TTC7A 基因突变的遗传性多发性肠闭锁(HMIA)是由同卵或复合杂合子 TTC7A 基因突变引起的。其特征是多发性小肠和大肠闭锁和/或狭窄。TTC7A 基因突变在一些炎症性肠病和轻度-重度重症联合免疫缺陷患者中也有描述,但这些患者没有肠闭锁或狭窄。我们报告了两例肠闭锁病例,并记录了TTC7A突变的新型变体。两个病例的临床和病理表现各不相同。第一个病例是一名男婴,妊娠35周时出生,未能排出胎粪。肠道活组织检查发现该婴儿患有凋亡性肠病,绒毛萎缩,粘膜嗜酸性粒细胞增多。第二个病例在出生时因产前检查发现脐疝、多羊水和可能的上肠梗阻而转诊。切除的标本显示回肠闭锁,部分绒毛萎缩,固有膜炎性细胞数量减少,没有浆细胞。总之,这些病例反映了一种新出现的TTC7A致病变异体,具有不同的组织学表现,因此被定性为免疫调节失调性疾病。有必要将与 TTC7A 基因突变相关的病例与标记为极早发性 IBD 的病例区分开来,并排除其他遗传性免疫缺陷的可能性。
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来源期刊
CiteScore
3.70
自引率
5.30%
发文量
59
审稿时长
6-12 weeks
期刊介绍: The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.
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