PDF(Pubmed)
Abstract：
Multiple intestinal atresia with combined immune deficiency is a severe autosomal recessive disorder caused by the tetratricopeptide repeat domain 7A (TTC7A) gene deficiency, which is characterized by extensive intestinal defects with immune deficiency. This report describes a fetus with TTC7A deficiency who developed meconium peritonitis in utero. Evidence suggests that patients with TTC7A deficiency present with intestinal defects as early as in utero. In this case, intestinal abnormalities were considered during the prenatal examination at week 28, and chromosome and genetic tests were performed. The results indicated that the fetus had a TTC7A complex heterozygous mutation. The male infant underwent surgical treatment after birth and developed severe infection and sepsis, which confirmed the presence of multiple intestinal atresia with combined immune deficiency. Our case suggests an association between meconium peritonitis and the TTC7A gene deficiency, indicating the possibility of severe intestinal defects and immune deficiencies after birth and guiding subsequent fetal treatment choices.
摘要：
合并免疫缺陷的多发性肠闭锁是由四肽重复结构域7A（TTC7A）基因缺陷引起的严重常染色体隐性遗传疾病，其特征是广泛的肠道缺陷和免疫缺陷。该报告描述了患有TTC7A缺乏症的胎儿在子宫内发生胎粪腹膜炎。证据表明，TTC7A缺乏症患者早在子宫内就存在肠道缺陷。在这种情况下,在第28周的产前检查中考虑了肠道异常，并进行了染色体和基因检测。结果表明胎儿具有TTC7A复合杂合突变。男婴出生后接受手术治疗，出现严重感染和败血症，这证实了多发性肠闭锁与联合免疫缺陷的存在。我们的病例提示胎粪腹膜炎与TTC7A基因缺陷之间存在关联，表明出生后严重肠道缺陷和免疫缺陷的可能性，并指导随后的胎儿治疗选择。
