甘露糖磷酸异构酶-先天性糖基化障碍(MPI-CDG)是一种表现为临床可识别的CDG,包括早期低血糖,凝血缺陷,以及胃肠道和肝脏症状。我们报道了一名在MPI基因中具有双等位基因致病性突变的女性患者,该患者反复出现呼吸道感染和IgM水平异常。但没有与MPI-CDG相关的经典症状。口服甘露糖治疗可快速改善患者的血清IgM水平和转铁蛋白糖基化。患者在开始治疗后没有出现严重感染。我们还回顾了迄今为止报道的MPI-CDG患者的免疫表型。
使用一种称为甘露糖的糖来增强患有一种罕见疾病的人的免疫系统,这种疾病称为MPI-糖基化先天性疾病磷酸异构酶-糖基化先天性疾病(简称MPI-CDG)是一种罕见的疾病,主要影响肝脏和消化系统的遗传性疾病。患有MPI-CDG的人通常在儿童期出现该病症的体征和症状。MPI-CDG的常见症状包括低血糖,血液凝固问题,增长不佳,低重量,小腿或手部肿胀,消化问题,还有肝脏问题.早期诊断对于MPI-CDG患者至关重要,因为这可能会危及生命,而是可以治疗的疾病.鉴于MPI-CDG患者数量较少,尤其是那些有免疫系统相关症状的人,重要的是突出具体案例以提高认识。本文总结了一名患有MPI-CDG的女性儿童的具体案例研究。该个体没有经历该疾病的通常体征和症状。然而,她的呼吸道受到多种感染,血液中的抗体水平异常.病人用甘露糖治疗,一种与果糖和葡萄糖有关的糖。经过12个月的治疗,抗体水平稳定。此外,她在开始甘露糖治疗后没有出现更严重的感染.旨在测量糖基化水平的测试,称为糖基化转铁蛋白测试,显示糖基化改善至几乎正常水平。总之,此病例报告增加了当前对该疾病的了解,并提高了人们对患者可能存在免疫问题的认识。它还显示甘露糖治疗可以是改善MPI-CDG中的免疫系统和糖基化的有效治疗。
Mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) is a CDG presenting with a clinically recognizable presentation, including early hypoglycemia, coagulation defects, and gastrointestinal and hepatic symptoms. We report on a female patient with biallelic pathogenic mutations in the MPI gene who presented with recurrent respiratory infections and abnormal IgM levels, but none of the classic symptoms associated with MPI-CDG. Oral
mannose therapy led to a fast improvement in serum IgM levels and transferrin glycosylation in our patient. The patient did not experience severe infections after the initiation of treatment. We also reviewed the immune phenotype in patients so far reported with MPI-CDG.
Using a type of sugar called mannose to strengthen the immune system of a person living with a rare disease called MPI-congenital disorder of glycosylation Mannose phosphate isomerase–congenital disorder of glycosylation (MPI-CDG for short) is a rare, inherited disease that mainly affects the liver and digestive system. People with MPI-CDG typically develop signs and symptoms of the condition during childhood. Common symptoms of MPI-CDG include low blood sugar, blood clotting problems, poor growth, low weight, swelling of the lower legs or hands, digestive problems, and liver problems. Early diagnosis is crucial for people with MPI-CDG, as it is a potentially life-threatening, but treatable disease. Given that there are a small number of people with MPI-CDG, especially those with symptoms related to their immune system, it is important to highlight specific cases to raise awareness. This article summarizes a specific
case study of a female child with MPI-CDG. This individual did not experience the usual signs and symptoms of the disease. However, she had multiple infections affecting her respiratory tract, and had abnormal levels of antibodies in her blood. The patient was treated with
mannose, a type of sugar that is related to fructose and glucose. After 12 months of treatment, levels of antibodies stabilized. Furthermore, she did not experience any more severe infections after starting treatment with mannose. Tests designed to measure levels of glycosylation, called glycosylation transferrin testing, showed improvement in glycosylation to almost normal levels. In conclusion, this
case report adds to the current knowledge about the disease and raises awareness that patients can present with immunological problems. It also shows that mannose treatment can be an effective treatment to improve the immune system and glycosylation in MPI-CDG.