Castleman 病（CD）又称为血管滤泡性淋巴组织增生或巨大淋巴结增生，是由美国病理医生 Castleman 等［1］于1954年首次提出的一种较为少见的异质性淋巴组织增生性疾病。近来个案报道增多，引起学者们的关注［2］。CD 临床表现多样，既可表现为单个淋巴结区淋巴结肿大，亦可表现为多发淋巴结肿大，并可伴或不伴系统损害症状。

慢性肾脏疾病是严重威胁人类健康的常见疾病,2012年一项调查发现中国慢性肾病发病率达10.8%[1],成为继心脑血管病、肿瘤、糖尿病之后又一严重威胁人类健康的疾病,但目前还无有效治疗手段。肾纤维化是多种慢性肾脏疾病的主要病理改变,是终末期肾脏病的共同结局,其病理特点包括细胞外基质增多、肾小管扩张或萎缩、细胞凋亡等。因此,寻找肾纤维化新的治疗靶点,减缓和逆转慢性肾脏疾病进程,对于指导临床、改善肾病患者生活质量具有重要意义。

Objective: To make the presymptomatic diagnose on the Hans in Heilongjiang province with the microsatellite DNA makers tightly linked with PKD1gene.Methods: The microsatellite DNA makers tightly linked to PKD1 gene were amplified by PCR.Polyacrylamidegel electrophoresis(PAGE),silver staining and Gene linkage analysis were performed.Results: One individual from strip 1 was diagnosed as PKD1 mutation carrier who was in the pre-stage of cyst.Conclusion: Early diagnosis with united-application of mul-ti-microsatellite DNA makers are active,quick and accurate after linked analysis

Objectve To investigate the association between insertion/deletion (I/D) polymorphism of angiotensin converting enzyme (ACE) gene and autosomal dominant polycystic kidney disease (ADPKD). Methods Polymorphism of ACE gene was analyzed by polymease chain reavtion (PCR) in 103 ADPKD patients and 16 ADPKD family constellations including 35 patients and 30 non-ill people. Clinical data were collected and age of onset, hepatocyst, hypertension, urinary tract infecton, urinary concretion, hematuria were used as the main parameters to analyze the association between ACE gene polymorphism and ADPKD. Results The age of onset in DD genotype was 7.2 years younger than that in DI genotype [(31.90±11.41) vs (39.10±10.08) years, P<0.05] and was 14.25 years younger than that in Ⅱ gene type [(31.90±11.41) vs(46.15±14.74) years, P<0.05]. The age of onset in I/D genotype was 7.05 years younger than that in Ⅱ genotype [(39.10±10.08) vs (46.15±14.74) years, P<0.05]. There were significance differences of main clinical symptoms (hypertension, hematuria and urinary tract infection) among three genotype groups. In 11 family constellations, ACE gene polymorphism presented genetic linkage, but without significant difference (P>0.05); the genotype distribution was not significantly different between ADPKD and non-ill people (P>0.05), as well as between man and woman (P>0.05); the DD genotype frequency was significantly higher in ADPKD patients with chronic renal failure (P<0.05). Conclusions The age of onset in DD gentype is the youngest among three groups. The incidence of hypertension and hematuria in DI genotype is the highest. The ACE gene polymorphism in ADPKD family constellation does not provide diagnosis information. The ACE gene I/D polymorphism may not contribute to ADPKD. The DD genotype of ACE may be a risk factor of renal failure in the ADPKD.

目的 探讨同型半胱氨酸(Hcy)及其代谢因素与肾病综合征(NS)的关系.方法 选取40例肾病综合征患者为实验组,40名年龄、性别相匹配的健康人为对照组,比较两组间Hcy、叶酸(FA)、维生素B6(VB6)、维生素B12(VB12)、血脂、凝血及肾功能的异同,并分析实验组Hcy水平与其代谢因素的关系.结果 (1)两组Hcy、FA、VB6、VB12、部分凝血活酶时间(APTT)、纤维蛋白原(FIB)和低密度脂蛋白(LDL)等比较有显著性差异(P<0.01),实验组血脂及凝血机制显著异常;(2)Hcy与APTT、FA、VB6、VB12水平呈负相关,与FIB水平呈正相关,其中VB6对Hcy影响最大.结论 Hcy及其代谢因素与NS密切相关,Hcy与APTT、FA、VB6、VB12水平呈负相关,与FIB水平呈正相关,其中VB6对Hcy影响最大.

Objective To investigate the relationship between insertion/deletion(I/D) polymorphism of angiotension converting enzyme(ACE) gene and autosomal dominant polycystic kidney disease(ADPKD).Methods Polymerase chain reaction(PCR) was used to determine the ACE gene polymorphism in 62 patients with ADPKD and 96 healthy subjects as controls.Results The genotype distribution was not significantly different between ADPKD and normal controls.The DD genotype frequency was significantly higher in ADPKD patients of chronic renal failure.Conclusion The ACE gene I/D polymorphism may not contribute to the happen of ADPKD;The DD genotype of ACE may be a risk marker for the ADPKD to the renal failure stage.