Departments of aGastroenterology bSurgery cPathology, Hospital Garcia de Orta, Almada dCEDE-FCM UNL, Neurogastroenterology and Gastrointestinal Motility Laboratory, Carnaxide, Portugal.
Eur J Gastroenterol Hepatol. 2013 Nov;25(11):1352-7. doi: 10.1097/MEG.0b013e328361dd17.
Alport syndrome (AS) is a hereditary disease characterized by glomerular nephropathy progressing to end-stage renal disease, frequently associated with sensorineural deafness and ocular abnormalities. Rarely, AS coexists with diffuse leiomyomatosis, a benign proliferation of smooth muscle in the gastrointestinal tract, mostly of the oesophagus, but also of the tracheobronchial tree and the female genital tract. Patients with this association have been shown to have contiguous gene deletion involving both COL4A5 and COL4A6 genes. The authors report the case of a 25-year-old man with AS and long-standing dysphagia. The patient received a renal transplant at the age of 23 because of end-stage renal disease. Clinical assessment as well as endoscopic, manometric and radiologic studies suggested the diagnosis of achalasia, which was treated by Heller's myotomy with Dor fundoplication. Postprocedure dysphagia led to an endoscopic ultrasound that showed diffuse thickening of the second layer, resulting in the hypothesis of oesophageal leiomyomatosis. The diagnosis was confirmed through histological study of endoscopic biopsies and genetic analysis.
Alport 综合征（AS）是一种遗传性疾病，其特征为肾小球肾病进展为终末期肾病，常伴有感觉神经性耳聋和眼部异常。罕见情况下，AS 与弥漫性平滑肌瘤病共存，这是一种胃肠道平滑肌良性增生，主要发生在食管，但也可发生在气管支气管树和女性生殖道。已有研究表明，存在涉及 COL4A5 和 COL4A6 基因的连续基因缺失的患者会出现这种合并症。作者报告了一例 25 岁男性 AS 患者，长期存在吞咽困难。该患者因终末期肾病于 23 岁时接受了肾移植。临床评估以及内镜、测压和影像学研究提示贲门失弛缓症的诊断，采用 Heller 肌切开术加 Dor 胃底折叠术进行治疗。术后吞咽困难导致内镜超声检查显示第二层弥漫性增厚，提示食管平滑肌瘤病的假设。通过内镜活检的组织学研究和遗传分析证实了该诊断。
