CAJ | 학술논문

Alport综合征是遗传性肾小球基底膜疾病,血尿、感音神经性耳聋及进行性肾功能减退是主要临床症状,可伴有眼部异常,此外极少数患者伴有弥漫性平滑肌瘤.Alport综合征伴弥漫性平滑肌瘤发生率低,受累部位常为食管、气管和女性生殖道等,并可出现吞咽困难、餐后呕吐,反复发作性支气管炎等呼吸困难的症状,其中以弥漫性食管平滑肌瘤最常见.同时伴有食管及胃巨大平滑肌瘤的Alport综合征的患者罕见,通过分析临床资料,总结该病的影像学表现,旨在提高对该病的认识及诊断水平.
Alport종합정시유전성신소구기저막질병,혈뇨、감음신경성이롱급진행성신공능감퇴시주요림상증상,가반유안부이상,차외겁소수환자반유미만성평활기류.Alport종합정반미만성평활기류발생솔저,수루부위상위식관、기관화녀성생식도등,병가출현탄인곤난、찬후구토,반복발작성지기관염등호흡곤난적증상,기중이미만성식관평활기류최상견.동시반유식관급위거대평활기류적Alport종합정적환자한견,통과분석림상자료,총결해병적영상학표현,지재제고대해병적인식급진단수평.
Alport syndrome is a hereditary glomerular basement membrane disease.Hematuria,sensorineural deafness and progressive renal function impairment is the main clinical symptoms.Alport syndrome can be associated with ocular abnormalities,and a few of patients were complicated with diffuse leiomyoma.The incidence of Alport syndrome with diffuse leiomyoma is low,and it mainly invades esophagus,the trachea and female genital tract,et al.Patients with Alport syndrome and diffuse leiomyoma have difficulty in swallowing and postprandial vomiting,recurrent bronchitis symptoms and dyspnea.Diffuse leiomyoma is commonly seen in the esophagus.Alport syndrome with huge esophageal and gastric leiomyoma is rarely seen in clinical practice.In this article,the imaging manifestations of Alport syndrome combined with huge esophageal and gastric leiomyoma is summarized to improve the understanding and diagnostic accuracy of this disease.