Chiruvella Varsha, Cheema Ayesha, Arshad Hafiz Muhammad Sharjeel, Chan Jacqueline T, Yap John Erikson L
Internal Medicine, Medical College of Georgia at Augusta University, Augusta, USA.
Gastroenterology and Hepatology, Medical College of Georgia at Augusta University, Augusta, USA.
Cureus. 2021 Apr 7;13(4):e14349. doi: 10.7759/cureus.14349.
Congenital sucrase isomaltase deficiency (CSID) is an autosomal recessive disorder which leads to chronic intestinal malabsorption of nutrients from ingested starch and sucrose. Symptoms usually present after consumption of fruits, juices, grains, and starches, leading to failure to thrive and malnutrition. Diagnosis is suspected on detailed patient history and confirmed by a disaccharidase assay using small intestinal biopsies or sucrose hydrogen breath test. Treatment of CSID consists of limiting sucrose in diet and replacement therapy with sacrosidase. Due to its nonspecific symptoms, CSID may be undiagnosed in many patients for several years. We present a case of a 50-year-old woman with persistent symptoms of bloating in spite of extensive evaluation and treatment.
先天性蔗糖酶异麦芽糖酶缺乏症（CSID）是一种常染色体隐性疾病，可导致对摄入的淀粉和蔗糖中的营养物质出现慢性肠道吸收不良。症状通常在食用水果、果汁、谷物和淀粉后出现，导致发育不良和营养不良。根据详细的患者病史怀疑诊断，并通过使用小肠活检或蔗糖氢呼气试验的双糖酶测定来确诊。CSID的治疗包括限制饮食中的蔗糖以及用蔗糖酶替代疗法。由于其症状不具特异性，许多患者的CSID可能多年未被诊断出来。我们报告一例50岁女性患者，尽管经过广泛评估和治疗，但仍持续存在腹胀症状。
