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1免疫缺陷病的概念及分类免疫缺陷病(immunodeficiencydisease,IDD)是指免疫系统中任何一个成分或多个成分的缺乏或功能缺陷导致免疫功能障碍,引起机体防御功能下降或部分下降,并由此而引起的一组临床综合征。因遗传因素,如基因突变、缺失等所致免疫功能缺陷称为原发性免疫缺陷病(primaryimmu nodeficiencydisease,PID),因后天因素所致的免疫缺陷称为获得性和继发性免疫缺陷病(secondaryimmunodeficien cy,SID)[1,2]。PID包括原发性B细胞缺陷、原发性T细胞缺陷、联合免疫缺陷、补体系统缺陷和吞噬细胞缺陷等;SID由营养不良、感染、药…     

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??Thalassemia is a chronic hemolytic inherited disease through single-gene mutation. Thalassemia is caused by a decrease in the production of globin chains. Beta-thalassemia major is detrimental to health in patients and is considered as a major public health issue. It is of significance to standardize the diagnosis and treatment of β-thalassemia major in our country. In this article??aiming to provide information and references to help clinical doctors??we try to interpret the guidelines for diagnosis and treatment of β-thalassemia major??2017??.     

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1第一阶段病历资料患儿女,42d。因"发热、腹泻1d,抽搐1次"于2011-10-02就诊于天津市儿童医院。经急诊医生抗惊厥处理后于当晚转入儿童重症监护病房(PICU)。转入时查体:体温(肛表测试)36.8℃,呼吸20次/min,脉搏110次/min,血压80/50mmHg(1mmHg=0.133kPa)。     

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??Gene therapy for thalassemia is based on gene-modified autologous hematopoietic stem cell transplantation. At present??preclinical and clinical studies have proved the safety and efficacy of lentivirus vector gene therapy??but there are still many factors limiting its clinical application??such as the quantity and quality of effective stem cells??the efficiency of gene transduction??level of gene expression??and toxicity of pre-transplantation preconditioning regimen.     

Chronic diarrhea and soy formulas. Inhibition of diarrhea by lactose

Soy protein formulas are often poorly tolerated by infants with chronic nonspecific or postinfectious diarrhea syndrome. We found that these adverse responses may be prevented by using lactose, instead of sucrose or dextrimaltose, in soy formula. We studied 40 infants diagnosed as soy intolerant. They were given soy formula with differing carbohydrate contents in a randomized, blinded prospective study. Stool output, stool sodium content, and symptoms were significantly improved in infants receiving a soy-lactose formula; no difference was seen in formulas with sucrose or maltose. Improvement occurred in three to five days in most infants. Furthermore, the characteristic frequency distribution of the favorable response to lactose suggested a specific mechanism for the inhibition of water and electrolyte losses through the bowel. The results indicate that, in the absence of lactose intolerance, a soy-lactose formula could be useful in treating chronic diarrhea and secondary protein intolerance.     

LIG4基因突变导致慢性腹泻1例报告并文献复习

目的探讨LIG4综合征的发病机制和诊断。方法回顾分析1例LIG4综合征患儿的临床资料及基因检测结果。结果患儿,男,19个月,慢性腹泻病伴病毒、细菌和真菌混合感染;小头外貌,发育落后,营养不良;血常规示白细胞计数,尤其中性粒细胞和淋巴细胞数显著减少,T细胞和B细胞减少,考虑为免疫缺陷病。二代测序发现患儿存在LIG4致病基因的复合杂合变异,即错义突变c. 833 GT;p.Arg 278 Leu以及缺失突变c. 1271_1275 del, p.Lys 424 Argfs*20。结论慢性腹泻合并多重感染应警惕免疫缺陷病,基因检测有助确诊。     

感染所致慢性腹泻的防治

在发展中国家,5岁以下儿童每年约有450万人死于腹泻病,其中一半死于慢性腹泻的合并症。引起小儿慢性腹泻的常见感染为病毒、细菌、真菌、寄生虫等引起的肠道内感染,而抗生素相关性腹泻受到关注。免疫缺陷和营养不良是感染持续或反复的重要因素。治疗重点是补充热卡及营养素,纠正水、电解质平衡失调;抗菌药物应针对特异性病原、并依据药物敏感试验结果选用;同时应用蒙脱石粉、锌、微生态制剂、消旋卡多曲等。促进肠粘膜修复药物可能有助于缩短腹泻病程。提倡母乳喂养、妥善治疗急性腹泻、积极防治营养不良、接种疫苗等措施可有效预防慢性腹泻的发生。     

内分泌疾病相关的电解质紊乱及救治措施

内分泌疾病由于机体内分泌激素的异常可导致电解质紊乱,这将不同程度损害机体的健康,如不能及时正确认识疾病并给予有效的处理措施,严重者可危及生命。本文概述了内分泌疾病相关的电解质紊乱及相应的救治措施,希望引起临床医生的重视,有效提高临床医师的诊治能力。