Primary sucrase-isomaltase deficiency, originally thought to be a homozygous recessive disorder, has been found to have numerous genetic variants that alone or in combination (compound heterozygosity) express varying degrees of clinical illness, most commonly causing chronic diarrhea, abdominal pain, and bloating. These symptoms are also present with secondary sucrase-isomaltase deficiency. Recent investigations are providing evidence that sucrase-isomaltase deficiency is more prevalent and of greater clinical significance than previously suspected. Further research is required to correlate the specific genotypes and phenotypes with their clinical expressions and to determine the most appropriate treatment algorithm for these patients.

中文翻译：

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蔗糖酶-异麦芽糖酶缺乏症的临床后果

原发性蔗糖酶-异麦芽糖酶缺乏症，最初被认为是一种纯合隐性疾病，现已发现有许多单独或组合（复合杂合性）的遗传变异表现出不同程度的临床疾病，最常见的是引起慢性腹泻、腹痛和腹胀. 这些症状也存在于继发性蔗糖酶-异麦芽糖酶缺乏症中。最近的调查提供的证据表明，蔗糖酶-异麦芽糖酶缺乏症比以前怀疑的更为普遍且具有更大的临床意义。需要进一步研究将特定基因型和表型与其临床表现相关联，并确定最适合这些患者的治疗方案。