中国X连锁视网膜色素变性家系RPGR新突变

目的 检测分析被诊断为X连锁视网膜色素变性（XLRP）的三个中国家系内的基因突变。设计 基因研究。研究对象 三个中国XLRP家系共27位受试者（其中18人为男性）。方法 由同一医生收集家系成员的详细临床资料并进行眼部检查，采集三个家系的先证者及有条件采血者的外周静脉血，提取基因组DNA。应用PCR技术扩增RPGR和RP2基因的全部外显子和内含子交界区序列，包括RPGR基因15号外显子开放阅读框，产物直接测序进行突变分析。主要指标 临床特征及基因测序结果。结果 基因筛查证实了两个RPGR基因的新型无义突变(c.1541C>G;p.S514X 和 c.2833G>T;p.E945X) 及一个错义突变(c.607G>C;p.A203P)。基因型-表型的相关性分析表明家系3患者在接近ORF15下游位置存在突变，这种突变导致视锥细胞功能的早期丧失。ORF15无义突变的女性携带者临床表型重，呈现出部分显性遗传的特点。结论 本研究证实了三种RPGR基因的新型突变，这一结果扩展了RPGR的突变谱及表型谱。     

肝移植术后巨细胞病毒性肺炎的临床特点和治疗方法

目的 探讨肝移植术后巨细胞病毒（CMV）性肺炎的临床特点和治疗方法。方法 回顾性分析2003年10月至2005年6月间施行肝移植的451例患者的临床资料，对肝移植术后CMV性肺炎的临床特点和治疗方法进行总结。结果 在451例患者中，发生CMV性肺炎7例，感染率为1．66％。CMV性肺炎的症状明显早于体征，7例患者均无明显诱因出现高热，约1周后逐渐出现干咳、气促、呼吸困难等；血氧饱和度降低，血气分析提示低氧血症；CMV pp65抗原检测均为阳性。CMV性肺炎患者采用更昔洛韦联合膦甲酸钠抗病毒治疗，同时采取停用免疫抑制剂、加用较大剂量的丙种球蛋白和适量的胸腺肽等的个体化免疫调节方案以及广谱抗生素等综合治疗方法，6例治愈，治愈率为85．7％。结论 CMV性肺炎的早期临床表现虽然缺乏特异性，但仍有规律可循，CMV pp65抗原检测法具有特异性和敏感性高的特点。采取联合抗病毒和个体化免疫调节等综合措施治疗CMV性肺炎效果确切。     

Oral Valganciclovir Is Noninferior to Intravenous Ganciclovir for the Treatment of Cytomegalovirus Disease in Solid Organ Transplant Recipients

Intravenous ganciclovir is the standard treatment for cytomegalovirus disease in solid organ transplant recipients. Oral valganciclovir is a more convenient alternative. In a randomized, international trial, recipients with cytomegalovirus disease were treated with either 900 mg oral valganciclovir or 5 mg/kg i.v. ganciclovir twice daily for 21 days, followed by 900 mg daily valganciclovir for 28 days. A total of 321 patients were evaluated (valganciclovir [n = 164]; i.v. ganciclovir [n = 157]). The success rate of viremia eradication at Day 21 was 45.1% for valganciclovir and 48.4% for ganciclovir (95% CI -14.0% to +8.0%), and at Day 49; 67.1% and 70.1%, respectively (p = NS). Treatment success, as assessed by investigators, was 77.4% versus 80.3% at Day 21 and 85.4% versus 84.1% at Day 49 (p = NS). Baseline viral loads were not different between groups and decreased exponentially with similar half-lives and median time to eradication (21 vs. 19 days, p = 0.076). Side-effects and discontinuations of assigned treatment (18 of 321 patients) were comparable. Oral valganciclovir shows comparable safety and is not inferior to i.v. ganciclovir for treatment of cytomegalovirus disease in organ transplant recipients and provides a simpler treatment strategy, but care should be taken in extrapolating to organ transplant recipients not properly represented in the present study.     

Nephrotic syndrome in a mother and her infant: relationship with cytomegalovirus infection

This case report describes infantile nephrotic syndrome (NS) in a baby girl with a clinically severe cytomegalovirus (CMV) infection. Culture of the baby's urine was positive for CMV and IgM anti-CMV antibodies were detected. After an unsuccessful course of corticosteroids, gancyclovir treatment was started and a remission of cutaneous, pulmonary, and renal symptoms was achieved. As the mother also developed NS at the end of pregnancy, a common etiology could be postulated, although there were no signs of recent CMV infection in the mother, only anti-CMV IgG. The relationship between CMV infection and glomerular disease is still unclear: NS may represent another manifestation of CMV disease.     

巨细胞病毒肝炎患儿血清细胞因子水平测定及其临床意义

目的　研究巨细胞病毒 (CMV)肝炎患儿血清干扰素 α(IFN α)、白细胞介素 8(IL 8)和肿瘤坏死因子 α(TNF α)水平的变化及其临床意义。方法　应用ELISA法检测 35例CMV肝炎患儿血清中上述三种细胞因子的含量 ,并对其两两之间进行了相关性分析。结果　CMV肝炎组患儿IFN α、IL 8、TNF α的含量分别为 (770 .3± 2 0 5 .4 )ng/L、(41.9± 2 2 .5 )ng/L和 (10 33.2± 388.5 )ng/L ,非常显著高于正常对照组 (P <0 .0 1)。相关性研究发现IFN α与TNF α呈显著正相关 (r =0 .35 6 ,P <0 .0 5 )。结论　血清细胞因子明显增高与CMV肝炎的病理变化和病损程度有着密切的联系     

Assay of cytomegalovirus susceptibility to ganciclovir in renal and heart transplant recipients

Ganciclovir (GCV) prophylaxis or pre-emptive therapy significantly reduce the rate of cytomegalovirus (CMV) disease and viremia, but increase the potential for emergence of ganciclovir-resistant CMV strains. The inhibitor concentration at 50% (IC(50)) of GCV from 156 CMV isolates from 59 renal or heart transplant recipients was calculated by means of a rapid phenotypic susceptibility assay. Twenty-seven strains were from 14 patients undergoing GCV therapy. The IC(50) was higher in patients under the prophylaxis regimen. One CMV strain, from a heart transplant recipient, became GCV-resistant after 1 month of therapy (IC(50)=13.7 micromol/l). These data, together with clinical and virological markers, suggested that a switch to foscarnet was necessary, and good evolution was observed. Thus, assay of CMV susceptibility to GCV could be helpful in clinical management.     

血浆巨细胞病毒多聚酶链反应检测用于指导干预性治疗

目的：分析用血浆巨细胞病毒（cytomegalovirus,CMV)多聚酶链反应（plymerase chain reaction,PCR)检测结果指导抗CMV干预性治疗的临床意义。方法：1999年8月至2001年7月行异基因造血干细胞移植（hematopoietic stem cell transplantation,HSCT)的所有患者自预处理开始，常规用PCR法检测血浆的CMV－DNA（采用华美公司生产的巨细胞病毒4℃ PCR检测试剂盒），每周1次。其中尚无CMV病的临床表现而检测到血浆CMV阳性的患者89例。随机选取52例阳性患者给予干预性治疗。将上述89例患者分为3组（分别为停止治疗时血浆CMV－PCR转阴组、停止治疗时未转阴组、血浆CMV阳性未治疗组）比较各组CMV病的发生率。CMV病的发生率采用Kaplan-Meier曲线表示，曲线间的比较用Log-Rank（曲线无交叉）或Breslow（曲线交叉）检验，某时点率的比较采用RXC列联表或χ^2检验。结果：100d内CMV病的发生率，在治疗后血浆CMV－PCR由阳性转为阴性组为10．26％，治疗结束时血浆CMV－PCR仍为阳性组为66.67%，血浆CMV－PCR阳性未治疗组为36．24％（P＝0.0000)。上述3组中任两组移植后100d CMV病的发生率差异均有显著性。移植后1年时上述3例CMV病累积发生率分别为30.65%、75.00%、42.95%(P=0.0009)，治疗未转阴组与治疗转阴组和阳性未治疗组相比，CMV病的发生率明显升高。结论：血浆CMV－PCR检测结果用来指导干预性治疗有一定临床意义。干预性治疗后血浆CMV－DNA仍未转阴者，应考虑换药或联合用药治疗。     

The progressive outer retinal necrosis syndrome

The progressive outer retinal necrosis (PORN) syndrome is a recently described clinical variant of necrotizing herpetic retinopathy in patients with the acquired immunodeficiency syndrome (AIDS). It is caused by varicellazoster virus infection of the retina. Its course and clinical features distinguish it from the acute retinal necrosis syndrome and CMV retinopathy. Early disease is characterized by multifocal deep retinal opacification. Lesions rapidly coalesce and progress to total retinal necrosis over a short period of time. Despite aggressive therapy with intravenous antivirial drugs, prognosis is poor; disease progression and/or recurrence is common, and the majority of patients develop no light perception vision. Total retinal detachments are common. Prophylaxis against retinal detachment using laser retinopexy has not been useful in most cases. PORN syndrome is an uncommon, but devastating complication of AIDS.     

Tubulointerstitial nephritis caused by the antiviral agent foscarnet

The antiviral agent foscarnet has long been used in our unit to treat cytomegalovirus (CMV) infections in renal transplant patients. The clinical effect has been convincing and, apart from changes in serum calcium levels, very few side effects have been noted. We have, however, observed a nephrotoxic reaction in a series of patients with initially good renal function who therefore received high doses of foscarnet. Transplant biopsies performed in five of those patients revealed degenerative changes in the tubular epithelial cells as well as tubular calcium deposits and an infiltration of the interstitium by mixed mononuclear and polymorphonuclear leucocytes. Renal insufficiency was accompanied by high fever. After withdrawal of the drug, the temperature rapidly normalized, whereas serum creatinine continued to rise for about 3 days and then fell back towards previous levels. We conclude that transplant biopsies are of great value in distinguishing between a foscarnet nephrotoxic effect and CMV nephritis, various forms of rejection, and other causes of impaired renal function.     

实质器官移植术后血浆IL-18、IL-10、IL-4检测在人巨细胞病毒感染中的意义

目的 探讨实质器官移植术后血浆中白介素18（IL－18）、白介素10（IL－10）、白介素4（IL－4）水平的检测在人巨细胞病毒（HCMV）感染中的意义。方法 对24例实质器官移植受者，用免疫组化法监测HCMV抗原血症。然后采用ELISA法测定血浆中IL－18、IL－10及IL－4的水平。结果 HCMV抗原阳性组IL－18的水平高于阴性组（P＜0.01），IL－10及IL－4的水平低于阴性组（均P＜0.05）。结论 血浆IL－18的水平可作为预测移植患者HCMV感染的一个有效指标，IL－10及IL－4的水平则可作为患者HCMV感染后体内免疫抑制程度的监测指标之一。