Erythrocyte membrane acetylcholinesterase, Na+, K+-ATPase and Mg2+-ATPase activities in patients with classical galactosaemia

BACKGROUND: Classical galactosaemia is commonly presented by high blood galactose (Gal) and galactose-1-phosphate (Gal-1-P) levels followed by mental retardation, seizures, etc. dependent on the mutation of the patients. AIM: To evaluate Gal and Gal-1-P in the blood of patients and to correlate their levels with their erythrocyte membrane acetylcholinesterase (AChE), Na+,K+-ATPase and Mg2+-ATPase activities. METHODS: Blood was obtained from nine patients on poor diet (group B) followed by a 30-d strict diet (group A) and controls (group C) in order to evaluate Gal and Gal-1-P in Guthrie cards and to correlate their concentrations with the above enzyme activities, which were measured spectrophotometrically. RESULTS: With the patients on a "loose" diet, AChE, Na+,K+-ATPase and Mg2+-ATPase activities were found to be decreased, as compared with those on strict diet and controls. Significantly (p<0.01) inverse correlation coefficients of the enzyme activities were found with Gal-1-P levels. CONCLUSION: (a) AChE, Na+,K+-ATPase and Mg2+-ATPase activities were determined to be decreased in poorly controlled patients with classical galactosaemia. (b) The enzyme activities were inversely correlated with the Gal-1-P blood levels. (c) Since Na+,K+-ATPase in the erythrocyte membranes is the isomer of Na+,K+-ATPase distributed in many tissues and in the brain, evaluation of the enzyme activity in the erythrocytes could be a useful peripheral marker of Gal-1-P toxicity.     

单纯性肥胖儿童血脂类、内皮素、糖耐量变化的意义

目的研究不同程度单纯性肥胖儿童血总胆固醇(TC)、三酰甘油(TG)、低密度脂蛋白(LDL)、内皮素(ET)及糖耐量变化。方法选择单纯性肥胖儿童436例,其中轻度单纯肥胖242例、中度单纯肥胖138例、重度单纯肥胖56例。对照组儿童80例。检测各组儿童血TC、TG、LDL、ET、糖耐量。结果单纯肥胖患儿血TC、TG、LDL、ET明显高于对照组,各项之间均有显著性差异,且增高程度与体质量呈正相关;重度单纯肥胖患儿中4例糖耐量异常,对照组无异常。结论单纯性肥胖儿童血脂类和ET表达水平均有增高,个别重度肥胖患儿有糖耐量下降情况,应对单纯性肥胖儿童进行早期干预。     

多器官功能障碍综合征危重患儿血促胃液素、胃动素及胰岛素生长因子水平变化

目的对危重患儿多器官功能障碍(MODS)时血促胃液素(GAS)、胃动素(MTL)及胰岛素样生长因子-1(IGF-1)进行检测,探讨其水平变化与器官功能障碍或衰竭的关系。方法采用放射免疫法对危重患儿50例及非危重患儿30例血GAS、MTL及IGF-1进行检测,并与30例正常对照组进行比较。结果危重患儿血GAS、MTL及IGF-1各组均数差异有显著性(F=49.61,55.18,18.23 P均<0.001),胃肠功能障碍组血GAS、MTL及IGF-1水平变化与非胃肠功能障碍组比较差异有显著性(t=4.455、4.241、2.672 P均<0.001)。危重患儿器官功能障碍中4个器官功能障碍与2个器官功能障碍比较,MTL与IGF-1差异有显著性,GAS差异无显著性。危重患儿治疗前后血GAS、MTL及IGF-1水平及非危重组与正常对照组比较差异有显著性(t=3.232、4.352、4.706 P均<0.001)。结论危重患儿MODS时血GAS、MTL及IGF-1可能参与危重症病情的发展,且与胃肠功能障碍及MODS发生有关,结合患儿临床对其血GAS、MTL及IGF-1进行监测,对估计患儿病情严重程度及治疗有重要指导意义。     

多器官功能障碍综合征危重患儿血促胃液素、胃动素及胰岛素样生长因子变化的意义

目的对危重患儿多器官功能障碍（MODS）时血促胃液素（GAS）、胃动素（MTL）及胰岛素样生长因子-1（IGF-1）进行检测，探讨其水平变化与器官功能障碍或衰竭的关系。方法采用放射免疫法对危重患儿50例及非危重患儿30例血GAS、MTL及IGF-1进行检测，并与30例正常对照组进行比较。结果危重患儿血GAS、MTL及IGF-1各组均数差异有显著性（F=49．61，55.18，18．23 P均〈0．001）。胃肠功能障碍组血GAS、MTL及IGF-1水平变化与非胃肠功能障碍组比较差异有显著性（t=4．455，4．241，2．672 P均〈0．001）。危重患儿器官功能障碍中4个器官功能障碍与2个器官功能障碍比较，MTL与IGF-1差异有显著性，GAS差异无显著性。危重患儿治疗前后血GAS、MTL及IGF-1水平及非危重组与正常对照组比较差异有显著性（t=3．232，4．352，4．706 P均〈0．001）。结论危重患儿MODS时血GAS、MTL及IGF-1可能参与危重症病情的发展，且与胃肠功能障碍及MODS发生有关，结合患儿临床对其血GAS、MTL及IGF-I进行监测，对估计患儿病情严重程度及治疗有重要指导意义。