Gitelman syndrome (GS) is an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. The disorder is named for Gitelman, an American nephrologist. He first described it in 1966, after observing a pair of sisters with the disorder. The disorder is caused by inactivating mutations in the SLC12A3 gene, resulting in improper function of the thiazide-sensitive sodium-chloride co-transporter located in the distal convoluted tubule of the kidney. GS was formerly considered a subset of Bartter syndrome until the distinct genetic and molecular bases of these disorders were identified. GS is usually managed by a liberal salt intake together with oral magnesium and potassium supplements. This review aims to establish an initial framework to enable clinical auditing and thus improve quality control of care.
目的：探討毒蕈中毒所致中毒性肝炎的臨床表現、治療與預后關系。方法：對3例急性毒蕈中毒患者進行回顧性臨床分析。結果：3例患者均出現中毒性肝炎，2例經治療后好轉，1例因多器官功能衰竭死亡。結論：中毒性肝炎如導致多臟器損害，預后差；及早洗胃，徹底清除毒物是救治關鍵；血漿置換治療有一定療效，肝移植是最有效的治療手段。
目的:總結群體性急治療提供了可供借鑒的經驗。性山豆根中毒的臨床救治經驗。方法:回顧性分析我院收治的56例群體性急性山豆根中毒的患者臨床資料。所有患者均進行了補液、利尿治療,有肝功能損害者行保肝治療,有心臟損害者與營養心肌治療。結果:56例中,以頭昏(47例,占83.93%)和胃腸道癥狀為主,表現為惡心54例(96.43%),嘔吐43例(76.79%),腹痛47例(83.93%)和腹瀉21例(37.5%)。部分患者出現心肌損害和肝功能損害。電解質紊亂較為普遍。經1～2天治療,所有患者自覺癥狀消失、肝功能和心肌酶譜恢復正常,治愈出院。經2年隨訪,未發現不良癥狀。結論:山豆根中毒目前沒有特殊解毒藥,經對癥支持治療效果良好。為群體性急性山豆根中毒的
ObjectiveThe aim of this study was to investigate the pathogenesis of AED-induced SJS/TEN across the spectrum of HLA-A, -B and -DRB1 alleles, and to explore the different clinical characteristics of patients with and without the HLA-B*15:02 allele in the SJS/TEN group. MethodsA total of twenty-three patients exhibiting AED-induced SJS/TEN (16 CBZ-SJS/TEN, seven LTG-SJS/TEN) and fifty-two patients who exhibited tolerance to AEDs were recruited. High-resolution HLA genotyping was performed to estimate the prevalence of the HLA-A, -B and -DRB1 alleles for each subject. Patients in the SJS/TEN group were further divided to positive HLA-B*15:02 allele group and negative HLA-B*15:02 allele group depending on whether carrying the HLA-B*15:02 allele, and the clinical feathers were compared between the two groups. ResultsNine of twenty-three patients (39%) in the SJS/TEN group were male, and the mean age of this group was 32 (8-68) years old. Twenty-eight of fifty-four (54%) patients in the tolerant group were male, and the mean age of the tolerant group was 28 (9-64) years old.Fourteen subjects in the SJS/TEN group carried the HLA-B*15:02 allele, whereas only four subjects (7.7%) in the AED-tolerant group carried this allele; the carrier rate of HLA-B*15:02 was significantly different between the groups (P<0.001). Among the fourteen patients who carried the HLA-B*15:02 allele in the SJS/TEN group, composing the positive HLA-B*15:02 allele group, eight patients (57.1%) were female, whereas six of nine patients in the negative HLA-B*15:02 allele group were female. The difference of the gender didn't have statistical significance between the two groups, nor did the other clinical characteristics, including mean age, the dosage of the AEDs, the interval from the drug administration to the onset of the SJS/TEN, fever, allergic history, abnormal MRI and abnormal EEG results. ConclusionsThe pathogenesis of AED-induced SJS/TEN is a complex process, which may involve one or more alleles. The HLA-B*15:02 allele may be a genetic susceptibility factor of the AED-induced SJS/TEN. However, we didn't find significant difference of the clinical characteristics of SJS/TEN between the patients with and without the HLA-B*15:02 allele. Notably, further studies using larger samples are required to confirm these conclusions.