Basilisco G
Cattedra di Gastroenterologia, Università degli Studi di Milano, IRCCS-Ospedale Maggiore di Milano, Italy.
Am J Gastroenterol. 1997 Jan;92(1):150-3.
Hereditary megaduodenum is a rare disease with autosomal dominant transmission characterized by visceral myopathy that involves the digestive and urinary tracts, and usually presents as intestinal pseudo-obstruction. Recently, a high rate of spontaneous chromosomal damage was found in blood lymphocytes of patients with hereditary megaduodenum, predictive of an increased cancer risk. Clinical manifestations of the disease vary, ranging from severe pseudo-obstruction to asymptomatic family members; recurrent urinary tract infections are common. Histology reveals vacuolar degeneration and fibrosis of the longitudinal layer of gastrointestinal muscle. This disease should be suspected in patients with an enlarged duodenum but no mechanical obstruction. Treatment is symptomatic and based on diet and control of bacterial overgrowth. Enteral or parenteral nutrition may be needed. Laterolateral duodenojejunostomy and gastrojejunostomy may sometimes be helpful to relieve obstructive symptoms. The risk of cancer in patients with hereditary megaduodenum is still unknown. This paper describes a family with hereditary megaduodenum in which one of the three affected members died of esophageal carcinoma and reviews the literature on the disease with particular attention to reports of cancer.
遗传性巨十二指肠是一种罕见的常染色体显性遗传病，其特征为累及消化和泌尿系统的内脏肌病，通常表现为肠道假性梗阻。最近发现，遗传性巨十二指肠患者的血液淋巴细胞中存在较高的自发性染色体损伤率，这预示着癌症风险增加。该病的临床表现各异，从严重的假性梗阻到无症状的家庭成员；反复发生的尿路感染很常见。组织学检查显示胃肠道肌肉纵层有空泡变性和纤维化。十二指肠扩大但无机械性梗阻的患者应怀疑患有此病。治疗以对症治疗为主，基于饮食和控制细菌过度生长。可能需要肠内或肠外营养。有时，十二指肠空肠侧侧吻合术和胃空肠吻合术可能有助于缓解梗阻症状。遗传性巨十二指肠患者的癌症风险仍不清楚。本文描述了一个患有遗传性巨十二指肠的家族，其中三名受影响成员之一死于食管癌，并回顾了关于该病的文献，特别关注癌症报告。
