常染色体显性遗传性多囊肾病患者肾脏体积随访的临床意义

目的探讨常染色体显性遗传性多囊肾病(ADPKD)患者肾脏体积的变化与临床表现及肾功能预后的关系。方法B超测量ADPKD患者肾脏的长、宽、厚三径,计算肾脏平均体积。同时测血清肌酐,计算肾小球滤过率(GFR)。按随访期GFR变化分为GFR稳定和下降2组,观察各组肾脏体积变化与临床症状、肾功能预后的关系。结果患者平均每年肾脏体积增大(41±44)cm3,GFR下降(2.0±2.2)ml/min。2组间初始肾脏体积、随访期肾脏体积、肾体积增长率、随访期GFR和GFR下降率比较差异均有显著性(P<0.01)。相关性分析示GFR与肾脏体积显著相关(与初始肾脏体积,r=-0.46;与随访期肾脏体积,r=-0.51;与肾脏体积增长率,r=-0.45;均为P<0.01)。GFR下降率与初始肾脏体积、随访期肾脏体积及肾脏体积增长率间明显相关。随着肾脏体积的增加,肉眼血尿、蛋白尿、高血压、泌尿系感染、腹部症状等临床并发症明显增加。结论ADPKD患者肾脏体积越大肾功能预后越差,并发症明显增加。肾脏体积大小和增长率是疾病进展的指标。     

常染色体显性多囊肾病的预后评估及治疗

常染色体显性多囊肾病(autosomal dominant polycystic kidney disease, ADPKD)患病率为1‰~2‰, 属于罕见病, 临床主要表现为双侧肾囊肿且逐渐发展, 肾脏体积进行性增大, 肾功能逐步降低。PKD1基因突变约占81%, PKD2基因突变约占10.5%~22%。血管加压素(arginine vasopressin, AVP)和环磷酸腺苷(cyclic adenosine monophosphate, cAMP)信号通路在ADPKD囊肿发展过程中发挥重要作用。近年来发表的梅奥风险评估模型和PROPKD(predicting renal outcome in polycystic kidney disease)评分是ADPKD较好的预后评估模型, 已成为临床医生决策的重要依据。通过拮抗AVP受体, 抑制cAMP通路的托伐普坦已成为ADPKD首个特异治疗药物, 可有效抑制总肾脏体积的增长和保护肾功能。药物的长期安全性仍需进一步研究。     

常染色体显性遗传性多囊肾病诊治进展

常染色体显性多囊肾病(autosomaldominantpolycystickidneydisease,ADPKD)是一种以双肾出现无数液性囊泡为主要特征的疾病。该病发病率为1/400～1/1000,是人类最常见的遗传性肾病,我国有150～300万患者。但目前多囊肾病仍缺乏监测疾病进展的敏感方法,亦无有效的治疗手段,仍然严重危害着人类健康。ADPKD致病基因主要有2个,称为PKD1和PKD2,分别于1994年和1996年被克隆[1,2]。细胞学和分子生物学理论及技术的进步,以及多囊肾病发病机制研究的深入开展,促使新的诊断和治疗方法不断涌现。多囊肾病已经成为肾脏病研究领域的热点,本文对当前…     

多囊肾病患者肾脏体积与临床表现关系的研究

目的:探讨常染色体显性遗传性多囊肾病(autosomaldominantpolycystickidneydisease,ADPKD)肾脏体积与临床症状及肾功能预后的关系,以期指导临床治疗和随访。方法:确诊的ADPKD患者65例,平均病程7.8年。对照组为正常健康人40名。采用B超,由专人测量患者双侧肾脏的长、宽、厚三径,计算肾脏体积。同时测血清肌酐,记录体重、血压,肉眼血尿以及腹部症状等。计算肾小球滤过率(GFR),分为GFR正常、轻度、中度、重度减低、肾衰竭5组。另按两侧肾脏长径均值>150mm分组。观察各组肾脏体积和临床症状,肾功能预后的关系。结果:患者肾脏平均体积较正常对照组明显增大[分别为(625576±48076)和(117496±1475)mm3,P<0.001]。患者各组肾脏体积与正常对照组相比均明显增大(P均<0.01)。ADPKD其他各组肾脏体积与GFR正常组相比,除GFR轻度减低组外均显著增加(P<0.05)。ADPKD肾功能明显损害病例大多出现在肾脏长径均值>150mm组。ADPKD肾脏体积大小与GFR呈负相关(r=-0.51,P<0.01)。随着肾脏体积增大,腹部压迫、疼痛及肉眼血尿等并发症明显增加。高血压与肾脏体积无相关关系(r=-0.01,P>0.05)。结论:ADPKD患者的肾脏体积越大肾功能预后越差,并发症明显增加。肾脏体积大小和增长率是疾病进展的指标。定期B超随访观察,有助早期综合治     

常染色体显性遗传性多囊肾病患者行腹膜透析的疗效分析

目的观察腹膜透析在治疗进入终末期肾脏病（ESRD）常染色体显性遗传性多囊肾病（ADPKD）患者中的临床疗效。方法临床纳入于我院行腹膜透析的ADPKD患者20例,对患者的临床资料进行回顾性研究。观察患者腹膜透析前后肾功能及电解质情况,术中及术后并发症、导管相关性并发症、腹膜透析相关并发症、尿毒症症状改善情况、生存时间、退出透析或死亡等结局等。结果患者透析前尿素氮（BUN）、血肌酐（Scr）、血钾（K）、血磷（P）、二氧化碳结合力（CO_2CP）分别为（32.2±17.1）mmol/L、（935.2±311.7）μmol/L、（4.9±2.0）mmol/L、（1.93±0.81）mmol/L、（19.8±6.9）mmol/L,透析后分别为（19.3±7.1）mmol/L、（654.8±202.5）μmol/L、（4.0±1.1）mmol/L、（1.51±0.66）mmol/L、（23.2±4.7）mmol/L,差异均有显著性（P〈0.05）;20例ADPKD患者手术均顺利完成,未发生术中及术后并发症;患者术后住院时间为（12.1±3.2）d;对20例患者进行2~57（30.2±7.6）个月的临床随访。随访期间,患者尿毒症症状均得到明显的改善,有2例患者发生死亡,平均生存时间为32.7个月,1例患者因消化道大出血死亡,1例患者因心力衰竭死亡;1例患者因负超滤,于腹膜透析后14个月改为血液透析治疗。结论腹膜透析治疗ADPKD具有较好的临床效果,能够显著改善尿毒症症状,可以作为ADPKD患者肾脏替代治疗的初始选择之一。     

常染色体显性遗传性多囊肾病的基因诊断方法及其临床应用

常染色体显性遗传性多囊肾病（autosomal dominant polyeystic kidney disease，ADPKD）是一种常见的单基因遗传性疾病．发病率约为1／1000。ADPKD主要在中年以后发病，临床表现为肾脏皮、髓质可有多个液性囊肿形成和增大，约50％患者在60岁左右发展成终末期肾功能衰竭，需要反复透析治疗或肾脏移植。ADPKD可累及多个器官和系统，如发生肝囊肿、颅内动脉瘤、心脏瓣膜异常等。     

9例常染色显性遗传性多囊肾病病人并发囊肿感染的护理

总结9例常染色显性遗传性多囊肾病病人并发囊肿感染的护理经验。护理要点包括:动态病情观察,容量监控,囊肿穿刺辅助诊断治疗,药物治疗及不良反应处理,健康指导。9例病人均康复出院。     

肾移植后常染色体显性遗传性多囊肾的基因表达谱变化

目的研究肾移植后常染色体显性遗传性多囊肾病（ADPKD）肾组织基因表达谱的变化，探讨免疫抑制药物对ADPKD的影响。方法将等量的未经肾脏移植的ADPKD肾组织和肾移植后ADPKD肾组织mRNA分另4用Cy3和Cy5逆转录荧光标记，制作cDNA探针，混合后与加96点人cDNA表达谱芯片进行杂交，Scan Array4000扫描仪扫描芯片荧光信号图像，数字化处理和分析后比较两种组织基因表达谱的差异。结果与一般ADPKD肾组织相比，肾移植后ADPKD肾组织中存在130条差异表达基因，其中70条基因低表达，特别是lumiean、TGF-beta基因等；60条高表达，特别是B细胞易住基因（BTG2）、双特异磷酸酶基因（DUSP5）等。结论部分差异表达的基因强烈提示与肾移植后ADPKD肾脏的病理生理学改变相符，表明免疫抑制药物对ADPKD确有治疗作用。     

Wnt信号通路与常染色体显性多囊肾病发病关系的研究进展

Wnt信号通路是一条保守的信号途径,其生物学效应非常广泛,对细胞的黏附、迁移、增殖和凋亡具有调控作用,与多种疾病的发生发展均有关系。近年研究发现,在常染色体显性多囊肾病的发病过程中,Wnt信号通路扮演着非常重要的角色。本文就Wnt信号通路与常染色体显性多囊肾病发病的研究进展做一综述。     

常染色体显性遗传性多囊肾病早期诊断标志物研究进展

常染色体显性遗传性多囊肾病是常见遗传性肾脏疾病。虽然疾病早、中期,肾脏囊肿呈持续增大,但多数患者肾功能仍处于正常水平。因此,临床需能预测疾病发生、发展的敏感生物学标志物。总肾体积、肾血流量是已知预测常染色体显性遗传性多囊肾病进展的指标。肽素、中性粒细胞明胶酶蛋白、微小核糖核酸等也可能是早期预测常染色体显性遗传性多囊肾病的敏感指标。本文就常染色体显性遗传性多囊肾病早期诊断标志物的研究进展作一综述。     

Multiple liver cyst infection caused by Salmonella ajiobo in autosomal dominant polycystic kidney disease

Most Salmonella infections are usually self-limited; however, some cases of enteritis result in bacteremia, and there have been reports of extra-intestinal manifestations. Cyst infections are rare, and few cases have been reported. We report a 77-year-old woman with autosomal dominant polycystic kidney disease (ADPKD) complicated with a multiple liver cyst infection caused by Salmonella ajiobo. The patient was hospitalized for fever, abdominal pain, and diarrhea. The blood culture identified Salmonella sp., but the source of infection was not detected by computed tomography or echography. The patient was initially treated with meropenem followed by fluoroquinolones for 3 weeks; however, her C-reactive protein level was high (10–20 mg/dL) even after the antimicrobial therapy. The patient had a fever again on day 51, and Salmonella sp. was detected again from 2 sets of blood cultures. Despite the antimicrobial treatment, her general condition gradually deteriorated, and she died on day 66. The autopsy revealed that most of the liver had been replaced by cysts. Several cysts filled with pus were detected and Salmonella ajiobo was identified in the pus of the infected cysts.     

Molecular diagnosis of autosomal dominant polycystic kidney disease

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease that accounts for 5–10% of end-stage renal disease in developed countries. Mutations in PKD1 and PKD2 account for a majority of cases. Mutation screening of PKD1 is technically challenging largely due to the complexity resulting from duplication of its first 33 exons in six highly homologous pseudogenes (i.e. PKD1P1-P6). Protocol using locus-specific long-range and nested PCR has enabled comprehensive PKD1 mutation screening but is labor-intensive and costly. Here, the authors review how recent advances in Next Generation Sequencing are poised to transform and extend molecular diagnosis of ADPKD.

Areas covered: Key original research articles and reviews of the topic published in English identified through PubMed from 1957–2017.

Expert commentary: The authors review current and evolving approaches using targeted resequencing or whole genome sequencing for screening typical as well as challenging cases (e.g. cases with no detectable PKD1 and PKD2 mutations which may be due to somatic mosaicism or other cystic disease; and complex genetics such as bilineal disease).     

Spontaneous coronary dissection should not be ignored in patients with chest pain in autosomal dominant polycystic kidney disease: A case report

BACKGROUNDWhen autosomal dominant polycystic kidney disease (ADPKD) presents with acute coronary syndrome (ACS), the possibility of spontaneous coronary artery dissection (SCAD) should be highly considered. In some cases, SCAD is considered an extrarenal manifestation of ADPKD depending on the pathological characteristics of the unstable arterial wall in ADPKD. CASE SUMMARYHere, we report a 46-year-old female patient with ADPKD who presented with ACS. Coronary angiography revealed no definite signs of dissection, while intravascular ultrasound revealed a proximal to distal dissection of the left circumflex. After a careful conservative medication treatment, the patient exhibited favorable prognosis. CONCLUSIONIn cases of ADPKD co-existing with ACS, differential diagnosis of SCAD should be considered. Moreover, when no clear dissection is found on coronary angiography, IVUS should be performed to prevent missed diagnosis.     

Successful endoscopic surgery for emphysematous pyelonephritis in a non-diabetic patient with autosomal dominant polycystic kidney disease: A case report

BACKGROUNDEmphysema pyelonephritis (EPN) is a very dangerous type of urinary tract infection. It is a lethal disease that develops rapidly and causes the patient to deteriorate rapidly, and it can easily lead to systemic infections and even sepsis. The incidence is extremely low, and it is prevalent in patients with diabetes. We here report a case of EPN in a non-diabetic patient with autosomal dominant polycystic kidney disease (ADPKD). We share the diagnosis and treatment procedure for this extremely rare condition to make this disease easier to identify and address early.CASE SUMMARYA 47-year-old woman presented to the emergency department of our hospital with a high fever and left back pain lasting 4 d. She had a history of autosomal dominant polycystic kidney and polycystic liver. She was diagnosed with left type I EPN and her vital signs deteriorated so quickly that she underwent an emergency operation in which a D-J tube was inserted into her left ureter on the second day after admission. Two months later, she underwent a second-stage flexible ureteroscopy and lithotripsy. Despite postoperative sepsis, she finally recovered after active symptomatic support treatment and effective anti-infective treatment.CONCLUSIONAlthough EPN is more likely to occur in diabetic patients, for non-diabetic patients with ADPKD and upper urinary tract obstruction, the disease also causes rapid deterioration. Early and accurate diagnosis and timely removal of the obstruction by invasive means may be able to save the damaged kidney and the patient’s life.     

Sonographic diagnosis of seminal vesicle cysts in autosomal dominant polycystic kidney disease

Multiple, bilateral seminal vesicle cysts were found in a young man by transabdominal sonography. Examination of the kidneys disclosed previously unknown autosomal dominant polycystic kidney disease. This case report draws attention to the rare association between these 2 conditions. © 1998 John Wiley & Sons, Inc. J Clin Ultrasound 26:221–222, 1998.     

成人型多囊肾病149例肾功能危险因素分析

目的 探讨常染色体显性遗传性多囊肾病(ADPKD)患者临床特点及导致肾功能损害进展加速的因素.方法 回顾性分析149例ADPKD患者临床资料,按照年龄、病程、血压、血尿程度、血脂情况、肾脏体积、24小时尿蛋白定量、是否合并泌尿系结石、有无家族史进行分组,分析上述因素对肾功能损害进展的影响.结果 血尿、高血压、蛋白尿、肾功能异常、合并多囊肝是本病最常见的临床表现.病程年限越长(≥5年)、血压越高(≥160/100 mmHg)、肾脏体积越大(≥300 cm×300 cm×300 cm),肾功能损害越重(P＜0.05);伴有血尿、蛋白尿、高脂血症者肾功能损害较无上述症状者更严重(P＜0.05).结论 ADPKD患者肾功能恶化与年龄、家族史无明显关系,但与病程延长、血压增高、蛋白尿、脂质代谢紊乱、血尿、肾脏体积大小密切相关,临床上应早期发现、积极治疗上述因素,尽量延缓多囊肾肾功能恶化的进程.     

Hypertension and left ventricular hypertrophy in autosomal dominant polycystic kidney disease

Hypertension is a common problem in patients with autosomal dominant polycystic kidney disease affecting both renal and patient survival. Activation of the renin–angiotensin–aldosterone system due to cyst expansion and local renal ischemia has been proposed to play an important role in the development of hypertension in autosomal dominant polycystic kidney disease. Left ventricular hypertrophy, a major cardiovascular risk factor, is also common in patients with autosomal dominant polycystic kidney disease. Both hypertension and the activation of the renin–angiotensin–aldosterone system play a role in the development of left ventricular hypertrophy in these patients. Prospective randomized results indicate that aggressive control of blood pressure is important for the optimal reversal of left ventricular hypertrophy, thereby diminishing a major risk factor for cardiovascular morbidity and mortality of patients with autosomal dominant polycystic kidney disease. There is also substantial epidemiological support for aggressive control of blood pressure in slowing renal disease progression in autosomal dominant polycystic kidney disease patients. Blockade of the renin–angiotensin–aldosterone system should be the initial approach in the treatment of hypertension in these patients.     

后腹腔镜去顶减压术治疗成人型多囊肾

目的 探讨后腹腔镜去顶减压术治疗成人型多囊肾的临床价值.方法 2001年1月～2004年10月,应用后腹腔镜去顶减压术治疗成人型多囊肾患者25例.结果 所有手术均获成功.平均手术时间150min,手术失血量30～150mL,术后肠道功能恢复时间12～24 h,下床活动时间24～48 h,术后平均住院时间6.5 d.随访10～54个月,20例腰痛患者中腰痛减轻13例;19例血压升高者中15例平均血压下降超过10 mmHg,其中11例血压下降至正常范围;血清Cr下降10μmol/L以上者6例,血清Cr一过性升高10μmol/L以上者2例.未发生严重并发症.结论 后腹腔镜去顶减压术治疗成人型多囊肾疗效确切,创伤小,恢复快,值得在临床上推广应用.