■先天性蔗糖酶-异麦芽糖酶缺乏症(CSID)是由蔗糖酶-异麦芽糖酶(SI)基因变体引起的一种罕见的遗传性碳水化合物吸收不良疾病。在CSID中,一种常染色体隐性遗传病,在具有杂合突变的个体中也可以看到症状。
■对2014年至2022年期间患有慢性腹泻的个体进行了回顾性评估,并且由于饮食相关投诉而考虑到CSID对SI基因进行了基因检测。
■对10例慢性腹泻患者进行SI基因测序。在诊断为CSID且其症状通过酶替代疗法改善的患者中,发现遗传突变的接合性为杂合性,率为90%。在10%的患者中,突变是纯合的。限制食用蔗糖和异麦芽糖食物减少了患者的投诉,但症状并没有完全消失。随着糖脂酶替代疗法的开始,病人的抱怨完全消失了。
■在CSID中,定义为常染色体隐性疾病,临床症状也可以在先前描述为携带者的杂合子病例中看到,这些患者也受益于糖糖苷酶替代治疗。根据这些发现,CSID的常染色体隐性定义不能完全表征该疾病.已知:CSID是一种罕见的遗传性碳水化合物吸收不良障碍,由蔗糖酶-异麦芽糖酶基因变体引起。在先天性蔗糖酶-异麦芽糖酶缺乏症中,一种常染色体隐性遗传性疾病,在具有杂合突变的个体中也可以看到症状。新功能:在杂合子病例中也可以看到严重的疾病症状,这被认为是携带者,因为这种疾病以前被描述为常染色体隐性遗传。糖糖苷酶替代疗法还消除了具有杂合CSID突变的患者的疾病症状。这是关于Türkiye和欧洲蔗糖酶-异麦芽糖酶缺乏症儿科组的第二项研究。
这是一项评估我国成人和儿童慢性腹泻病例中先天性蔗糖酶-异麦芽糖酶缺乏的研究,以及这些患者中检测到的变异的临床特征和治疗反应特征。此外,我们研究的另一个目的是在鉴别诊断中应考虑蔗糖酶-异麦芽糖酶缺乏,并应牢记,尤其是在儿童时期无法确定病因的慢性腹泻病例中。
UNASSIGNED: Congenital sucrase-isomaltase deficiency (CSID) is a rare inherited carbohydrate malabsorption disorder caused by sucrase-isomaltase (SI) gene variants. In CSID, an autosomal recessively inherited disease, symptoms can also be seen in individuals with heterozygous mutations.
UNASSIGNED: The variant spectrum was evaluated retrospectively in individuals who presented with chronic diarrhea between 2014 and 2022 and had undergone genetic testing of the SI gene considering CSID due to diet-related complaints.
UNASSIGNED: Ten patients with chronic diarrhea were genetically evaluated with SI gene sequencing. In patients diagnosed with CSID and whose symptoms improved with enzyme replacement therapy, the genetic mutation zygosity was found to be heterozygous at a rate of 90%. In 10% of the patients, the mutation was homozygous. Limiting consuming sucrose and isomaltose foods reduced the patients\' complaints, but the symptoms did not disappear completely. With the initiation of sacrosidase enzyme replacement therapy, the patient\'s complaints completely disappeared.
UNASSIGNED: In CSID, defined as an autosomal recessive disease, clinical symptoms can also be seen in heterozygous cases previously described as carriers, and these patients also benefit from sacrosidase enzyme replacement therapy. In light of these findings, the autosomal recessive definition of CSID does not fully characterize the disease.What is Known:CSID is a rare inherited carbohydrate malabsorption disorder caused by sucrase-isomaltase gene variants.In congenital sucrase-isomaltase deficiency, an autosomal recessively inherited disorder, symptoms can also be seen in individuals with heterozygous mutations.What is new:Severe disease symptoms can also be seen in heterozygous cases, which were thought to be carriers because the disease was previously described as autosomal recessive.Sacrosidase enzyme replacement therapy also eliminates the disease symptoms in patients with heterozygous CSID mutations.This is the second study on sucrase-isomaltase enzyme deficiency pediatric groups in Türkiye and Europe.
This is the study to evaluate the congenital sucrase-isomaltase enzyme deficiency in chronic diarrhea cases covering adults and childhood in our country and the clinical features and treatment response characteristics of the variants detected in these patients.In addition, another aim of our study is that sucrase–isomaltase enzyme deficiency should be considered in the differential diagnosis and should be kept in mind, especially in cases with chronic diarrhea whose cause cannot be determined in childhood.