背景:肺泡包虫病(AE),由多房棘球蚴的幼虫形式引起,是一种影响肝脏的人畜共患疾病,肺,淋巴结,肾脏,大脑,骨头,甲状腺,和其他器官。在非流行区诊断AE通常具有挑战性。近年来随着测序技术的迅速发展和应用,宏基因组下一代测序(mNGS)已成为诊断罕见传染病的有力工具。
方法:一名45岁女性因肺部阴影出现超过3个月而入院。当地医院的肺部计算机断层扫描(CT)显示左上叶分散的实性和准圆形结节,左下叶,右中叶,和右下叶。最大结节位于右肺背侧,尺寸为2.0×1.7×1.5厘米。此外,腹部CT显示左叶和右叶各一个占位病变。肺活检标本的病理分析显示淋巴细胞浸润,浆细胞,和嗜酸性粒细胞在肺泡壁和间质区。痰涂片和培养试验均未见病原菌。粪便中没有寄生虫卵。肺穿刺组织的mNGS显示6156个序列读数匹配多房性大肠杆菌;因此,诊断为AE。阿苯达唑400毫克,每天两次,患者在随访期间保持稳定。
结论:本病例强调了mNGS在诊断AE中的作用。作为小说,敏感,和准确的诊断方法,mNGS可能是促进早期诊断和及时治疗传染病的一种有吸引力的方法,特别是当感染是由罕见的病原体引起时。
BACKGROUND: Alveolar echinococcosis (AE), caused by the larval forms of Echinococcus multilocularis, is a zoonotic disease affecting the liver, lungs, lymph nodes, kidneys, brain, bones, thyroid, and other organs. Diagnosing AE in a non-endemic area is usually challenging. With the rapid development and increasing application of sequencing techniques in recent years, metagenomic next-generation sequencing (mNGS) has become a powerful tool for diagnosing rare infectious diseases.
METHODS: A 45-year-old woman was admitted to the hospital for the presence of pulmonary shadows for more than 3 months. The lung computed tomography (CT) at a local hospital revealed scattered solid and quasi-circular nodules in the left upper lobe, left lower lobe, right middle lobe, and right lower lobe. The largest nodule was located in the dorsal part of the right lung, measuring 2.0 × 1.7 × 1.5 cm. Moreover, abdominal CT revealed one space-occupying lesion each in the left and right lobes. The pathological analysis of the lung biopsy specimen revealed infiltration of lymphocytes, plasma cells, and eosinophils in the alveolar wall and interstitial area. No pathogenic bacteria were observed in the sputum smear and culture tests. There were no parasite eggs in the stool. The mNGS of the lung puncture tissue revealed 6156 sequence reads matching E. multilocularis; thus, the condition was diagnosed as AE. Albendazole 400 mg was administered twice daily, and the patient was stable during follow-up.
CONCLUSIONS: This
case emphasizes the role of mNGS in diagnosing AE. As a novel, sensitive, and accurate diagnostic method, mNGS could be an attractive approach for facilitating early diagnosis and prompt treatment of infectious diseases, especially when the infection was caused by rare pathogens.