代谢综合征及其肾脏损伤研究进展

代谢综合征是一类以胰岛素抵抗为共同病理生理基础的代谢紊乱症侯群,其定义目前尚无统一的标准,胰岛素抵抗、中心性肥胖在其组分中仍占有重要地位.该综合征作为2型糖尿病及心血管疾病的高危因素已得到较多临床研究的证实,近年来大规模的流行病学调查还发现代谢综合征患者发生微量白蛋白尿以及慢性肾脏疾病的风险性明显高于正常人,且代谢异常组分越多.风险性越大.代谢综合征各个组分均可导致肾脏的损伤,其损伤的机制仍不完全清楚,包括微炎症反应、内皮细胞损伤、血流动力学改变、凝血机制的紊乱、脂质毒性等.代谢综合征的治疗及如何更有效的预防其肾脏的损伤需要更大规模的临床研究.     

脂代谢异常与多囊卵巢综合征

多囊卵巢综合征(PCOS)是一种异质性内分泌紊乱,与生殖异常(高雄激素血症、月经过少/闭经、不孕症、妊娠并发症增加)及代谢异常(脂代谢异常、代谢综合征和冠心病)有关。PCOS与代谢紊乱的关系已有大量研究,且大多研究表明PCOS妇女中的血脂异常较非PCOS的同龄妇女中更普遍,与肥胖及胰岛素抵抗密切相关。本文就肥胖相关的脂代谢异常与PCOS的关系做一综述,以便为PCOS的筛查、诊断、治疗及预防远期并发症提供临床指导。     

多囊卵巢综合征与复发性流产的研究进展

复发性流产(RSA)的发生与多种因素相关,包括年龄、遗传、内分泌与代谢障碍、免疫因素、子宫发育异常、血栓形成倾向、感染、精液质量和生活方式等。多囊卵巢综合征(PCOS)是一种以持续性无排卵、多卵泡不成熟、雄激素水平升高和胰岛素抵抗为主要特征的生殖功能障碍与糖代谢异常并存的内分泌紊乱综合征。PCOS患者RSA的发生率明显高于普通人群,30%~40%的PCOS患者存在自然流产史。目前,PCOS患者易发生RSA的具体发病机制尚不明确,可能与高黄体生成素血症、高雄激素血症、胰岛素抵抗、肥胖、高泌乳素血症、黄体功能不全、血栓形成等有关。本文从上述方面对PCOS患者发生RSA的常见原因及其预防进行综述。     

代谢综合征与肾脏疾病之间的关系

代谢综合征(MS)是常由肥胖启动、以胰岛素抵抗为基础、包括肥胖、糖代谢紊乱、脂质代谢异常及高血压等生理异常聚集的临床综合征,这些异常单独或者合并存在时均能够导致肾脏损害或加速原有肾脏疾病的进展,与单纯糖尿病、高血压或脂代谢紊乱等导致的肾损害不同,MS肾损害通常由肥胖启动并且是上述多重因素综合作用的结果。本文拟就MS肾脏损害的临床特点、发生机制及对MS的干预措施的研究进展作一综述。     

代谢综合征与肾脏疾病之间的关系

代谢综合征(MS)是常由肥胖启动、以胰岛素抵抗为基础、包括肥胖、糖代谢紊乱、脂质代谢异常及高血压等生理异常聚集的临床综合征，这些异常单独或者合并存在时均能够导致肾脏损害或加速原有肾脏疾病的进展，与单纯糖尿病、高血压或脂代谢紊乱等导致的肾损害不同，MS肾损害通常由肥胖启动并且是上述多重因素综合作用的结果。本文拟就MS肾脏损害的临床特点、发生机制及对MS的干预措施的研究进展作一综述。     

多囊卵巢综合征患者胰岛素抵抗的研究进展

多囊卵巢综合征(PCOS)是一种常见的影响生育功能的妇科内分泌疾病,被认为与遗传、代谢、内分泌及环境等多因素相关。PCOS患者的胰岛素抵抗增加了2型糖尿病、高血压、脂质代谢异常等发生的风险,越来越多的研究开始关注PCOS患者的胰岛素抵抗,本文从胰岛素抵抗的发生机制、评估、治疗等方面阐述其在PCOS中的研究进展。     

减重手术在多囊卵巢综合征治疗中的作用

多囊卵巢综合征（polycystic ovarian syndrome,PCOS）是女性常见内分泌紊乱性疾病,其发生率近10%。表现为无排卵、高雄激素血症及超声显示卵巢的多囊改变。多数患者伴有代谢综合征（metabolic syndrome,MS）,表现为高血压、高血脂、肥胖、胰岛素抵抗及糖耐量异常。     

脂联素在多囊卵巢综合征中作用机制的进展

多囊卵巢综合征(PCOS)是育龄期女性最常见的生殖内分泌疾病,主要特征为排卵功能障碍、卵巢多囊样改变、高雄激素血症。PCOS的临床特征具有复杂性和异质性,其发生发展与脂肪组织功能失常密切相关。脂联素是脂肪组织来源的脂肪因子,目前多项研究显示,在PCOS患者及DHEA诱导的PCOS大鼠模型中脂联素的水平显著降低,而脂联素水平与肥胖、胰岛素抵抗、炎症等密切相关。本文主要从激素合成、代谢、炎症等方面阐述脂联素在PCOS发生发展过程中的分子机制,以期为PCOS的诊断和治疗提供一定参考。     

基于蛋白质组学技术的多囊卵巢综合征患者卵泡液研究

多囊卵巢综合征(PCOS)是一种临床表现多样、病因复杂的内分泌代谢疾病,也是引起育龄期女性继发性闭经和无排卵性不孕的主要原因。PCOS发病率高,然而其发病机制尚不清楚,现运用蛋白质组学技术筛选PCOS患者卵泡液中的差异蛋白,发现PCOS患者卵泡液中的差异蛋白主要与类固醇的生成、卵丘-卵母细胞复合体(COC)基质的扩增、细胞外基质(ECM)的稳定、血管生成、细胞凋亡、炎症反应及凝血功能等有关。现就基于蛋白质组学技术下的PCOS患者卵泡液的研究做一综述,以期为临床治疗寻找新的潜在治疗靶点提供一定思路。     

多囊卵巢综合征相关microRNAs的研究进展

多囊卵巢综合征(PCOS)是一种以高雄激素血症、稀发排卵或无排卵、卵巢多囊样改变为特征的内分泌疾病,可伴有高血脂、高血压、2型糖尿病、心血管疾病等远期并发症,这种代谢紊乱及功能障碍严重危害了女性的身心健康。microRNAs(miRNAs)作为表观遗传学领域的重要分支,是一种由19～25个核苷酸组成的单链非编码RNA,能够抑制靶mRNA转录、翻译或剪切靶mRNA并促进其降解,具有间接调节基因表达的能力。本文主要阐述PCOS患者的血液、卵巢组织、外泌体中异常表达miRNAs的研究进展,以期为PCOS发病机制、临床诊断治疗及预后改善提供理论依据。     

Combined Alport syndrome,Klinefelter syndrome and Fanconi syndrome in a Chinese boy

Alport syndrome (AS) is a progressive renal disease characterized by hematuria and progressive renal failure. X-linked dominant (XLAS) is the major inheritance form, accounting for almost 80% of the cases, caused by mutations in COL4A5 genes. Klinefelter syndrome (KS) is the most common genetic cause of human male gonadal dysgenesis. AS and KS are both rare disease, there are only three cases of combined AS and KS in the literatures. Fanconi syndrome (FS) caused by AS is also very rare. We report here the first case combined AS, KS and FS in a Chinese boy. We suggest that the severe renal phenotype and FS might be due to the two homozygous COL4A5 variants in our boy, and cases of AS combined KS will be good research objects for X chromosome inactivation.     

Steroid-responsive nephrotic syndrome in a patient with nail-patella syndrome

Nail-patella syndrome (NPS) is a rare disorder with autosomal dominant mode of inheritance. We report a child with NPS and steroid-responsive, frequently relapsing nephrotic syndrome. The child had dystrophic nails, flexion contractures of both elbows and normal renal functions. X-rays of the knees and pelvis showed hypoplastic patellae and iliac horns. Renal histology was unremarkable with mild focal increase in mesangial cellularity compatible with minimal change disease. Ultrastructural features of NPS including thickening of the glomerular basement membrane with electron-lucent areas were not found.     

Mesenteric thrombosis causing short bowel syndrome in nephrotic syndrome

Nephrotic patients are at risk of developing venous and arterial thrombotic complications. Pulmonary embolism due to affected deep leg veins is by far the most common event. Renal or cerebral vein thromboses have been described. Thrombosis of arterial vessels is less frequent. Mesenteric infarction is a rare but severe complication in patients with nephrotic syndrome (NS). We report a 7-year-old boy with a steroid-dependent (SD) NS and a homozygous mutation of methylenetetrahydrofolate reductase, increasing the risk of thromboembolic events. He developed a thrombosis of his superior mesenteric artery during his ninth relapse, which was responsible for a necrosis of 240 cm of his small bowel, necessitating resection of necrotic parts and double external ostomy diversion. Remission was achieved with pulse prednisolone therapy. Corticoids were reduced over 4 months progressively. Oral cyclosporin A (CyA) was initiated for long-term treatment. Due to a short bowel syndrome with severe malabsorption, even oral administration of 22.5 mg/kg per day CyA did not lead to sufficient plasma levels. Intravenous cyclophosphamide pulse therapy over 6 months led to a complete remission. No relapse occurred over a period of more than 5 months after the last cyclophosphamide pulse. Anticoagulation and screening for increased susceptibility for thrombotic events are necessary in every nephrotic patient. Intravenous cyclophosphamide pulse therapy is a useful alternative in SDNS with impaired intestinal absorption of applied immunosuppressive drugs.     

Vascular insufficiency in Okihiro's syndrome secondary to hypothenar hammer syndrome

The presence of Okihiro's syndrome (congenital thenar hypoplasia and Duane's anomaly) in a patient became clinically significant when a hypothenar hammer syndrome developed. The ulnar artery occlusion resulted in a compromise of the hand's vascular supply because of a congenital hypoplastic radial artery. Resection of the thrombosed ulnar artery and insertion of an interposition vein graft restored circulation to the hand. Anatomic features in this case include a hypoplastic radial artery and double motor branch of the median nerve. Clinicians should consider Okihiro's syndrome in the differential diagnosis of thenar muscle atrophy since there are genetic, diagnostic, and clinical implications.