ObjectiveTo analyze and identify the pathogenic mutation that caused a case of child’s renal coloboma syndrome (RCS).MethodsA child with congenital cataract in the right eye and optic disc defect in the left eye and his parents with normal phenotype were included in the study. The blood of the child and his parents were captured to extract DNA and make molecular test. The possible variants were screened through NGS sequencing using the ophthalmology gene panel on illumina NextSeq 500 platform, and proved the selected PAX2 mutation by Sanger sequencing. Pathogenicity report was retrieved through PubMed and related database. Pathogenicity analysis of the candidate mutated site has careful consideration of the patient’s clinical presentations and sequencing result base on Standards and Guidelines for the Interpretation of Sequence Variants revised by ACMG. According to the results of gene diagnosis, the child was executed related clinical examinations on kidney.ResultsThe sequence result showed that a heterozygous mutation in PAX2, c.70dupG (p.V26Gfs*28), which lead to truncated protein product that terminated after 28 amino acids of the mutated site. Both of his normal parents were not carriers of the heterozygous mutation. Sanger sequencing results of the child and his parents were consistent with the NGS sequencing. The autosomal dominant disease phenotype was inferred to be caused by the heterozygous mutation of c.70dupG (p.V26Gfs*28) of PAX2 gene. Renal color Doppler ultrasound results showed the child with small renal cysts on the left and mildly separated collecting system. Renal function tests showed the child with α1 microglobulin index increased.ConclusionThe heterozygous mutation c.70dupG (p.V26Gfs*28) in PAX2 is the genetic pathogenic cause for the patient with RCS.
Objective To compare the accuracy of different renal function measurements for predicting postoperativeadverse events after off-pump coronary artery bypass grafting （OPCAB） for Chinese patients. Methods Clinical data of 283 Chinese patients undergoing isolated OPCAB from January 2010 to December 2011 in the First Hospital of Peking University were retrospectively analyzed. There were 194 male and 89 female patients with their age of 65.0±9.7 years. Estimated glomerular filtration rate （eGFR） was calculated using Cockcroft-Gault equation，Modification of Diet in Renal Disease （MDRD） study equation and Chronic Kidney Disease Epidemiology Collaboration （CKD-EPI） equation respectively.Logistic multivariate regression analysis was performed to compare the accuracy of these 3 different renal function measure-ments for predicting postoperative adverse events. Results Logistic multivariate regression analysis showed that preoper-ative renal dysfunction was an independent risk factor for higher postoperative morbidity，more blood transfusion，prolongedhospitalization，mechanical ventilation time and length of ICU stay. Among the different postoperative complications，preop-erative renal dysfunction was an independent risk factor for postoperative acute renal injury，gastrointestinal bleeding，new onset atrial fibrillation and low cardiac output syndrome. Among Cockcroft-Gault equation，MDRD study equationand CKD-EPI equation to calculate eGFR，CKD-EPI equation was most accurate to predict postoperative morbidity （OR=1.227），acute renal injury （OR=1.534），new onset atrial fibrillation （OR=1.184），prolonged hospitalization（OR=1.160），mechanical ventilation time （OR=1.165） and ICU stay （OR=1.151）. Conclusion Preoperative renal dysfunction is an independent risk factor for postoperative adverse events after OPCAB. CKD-EPI equation is more suitable for predicting postoperative adverse events after OPCAB for Chinese patients.
Objective To summarize and analyze the clinical outcomes and experiences of continuous renal replacement therapy(CRRT) in patients with acute renal insufficiency after heart transplantation. Methods There were 39 patients received orthotopic heart transplantation from September 2007 to September 2008 in Fu Wai hospital. Seven cases required the use of PRISMA CRRT machine (Gambro Healthcare,Inc.) because of acute renal insufficiency after heart transplantation, and received continuous venovenous hemodiafiltration(CVVHDF) treatment via M100 blood filter (hemofilters). Activated coagulation time (ACT) was maintained in 160200 s. Results Six survivals with New York Heart Association (NYHA)Ⅰdischarged ，1 case died of multiple system organ failure (MSOF) and severe infection. The time of CRRT was 48658 h, with an average of 252 h. Seven patients were oliguric or anuric during CRRT, but hemodynamics and internal environment were stable. After stopping CRRT, the creatinine level rose to 267.1±68.5 μmol/L， then the creatinine level decreased to normal range with urine increasing gradually. Postoperative glomerular filtration rate (GFR) was 56.5±19.0 ml/min， and there was no statistical significance compared with preoperative GFR（Pgt;0.05）. Six survivals were followed up for 513(9.7±3.8)months，and their creatinine level was in normal range(90.6±26.7 μmol/L). There was no statistical significance compared with the creatinine level at discharge (83.2±26.5 μmol/L, Pgt;0.05）. Conclusion The prognostic outcomes of patients with acute renal insufficiency after heart ransplantation are excellent after using CRRT. No significant renal dysfunction is found.
Objective To investigate the prognosis and risk factors of cardiac surgical patients with preoperative renal dysfunction，and evaluate the accuracy of estimated glomerular filtration rate （eGFR） as a predictor of adverse outcomes. Methods A total of 2 151 adult patients undergoing cardiac surgery in Renji Hospital，School of Medicine of Shanghai Jiaotong University from January 2005 to December 2009 were included in this study. There were 1 267 male patientsand 884 female patients with their average age of 58.7 （18-99）years. Clinical characteristics of patients with preoperative renal dysfunction，severity of postoperative acute kidney injury （AKI）and patients’ outcomes were analyzed. Multivariate logistic regression was performed to analyze perioperative risk factors of postoperative AKI. Receiver operating characteristic（ROC） curve was used to evaluate the accuracy of eGFR to predict patients undergoing postoperative renal replacement therapy （RRT） and in-hospital death. Results A total of 221 patients （10.27%） had preoperative renal dysfunction，among whom 124 patients （56.11%） developed postoperative AKI. Patients with preoperative renal dysfunction were older，had more comorbidities including hypertension and diabetes mellitus，were more likely to receive postoperative RRT，and had worse outcomes. Patients with decreased preoperative eGFR had significantly higher in-hospital mortality. Patients with preoperative renal dysfunction who developed postoperative AKI had the worst prognosis. Multivariate logistic regression showed that hypertension （OR=4.497，P=0.003），postoperative central venous pressure （CVP） ＜6 cm H2O （OR=16.410，P=0.000） and postoperative CVP＞14 cm H2O （OR= 5.178，P=0.013） were independent predictors of postoperative AKI for patients with preoperative renal dysfunction. The areas under the ROC curves of eGFR to predict in-hospital mortality and postoperative RRT were 0.691 and 0.704 respectively （95% CI 0.630-0.752，P=0.000；95% CI 0.614-0.795，P=0.001）. Conclusion Patients with preoperative renal dysfunction are older，have more comorbidities，higher likelihood to develop postoperative AKI and worse prognosis. Hypertension，postoperative CVP＜6 cm H2O and postoperative CVP＞14 cm H2O are independent predictors of postoperative AKI for patients with preoperative renal dysfunction. We believe eGFR can accurately predict the risk of adverse kidney outcomes and in-hospital death of patients undergoing cardiac surgery.
目的：研究羟甲戊二酰辅酶A还原酶抑制剂辛伐他汀治疗慢性肾功能不全的临床疗效。方法：选择慢性肾功能衰竭患者共40例，随机分成两组，在原有基础治疗上治疗组20例患者予以辛伐他汀治疗，对照组20例单纯以基础治疗，在24周时监测TC、TG、24 h尿蛋白、Scr、BUN、C-反应蛋白的值。结果：与治疗前相比，两组TC、TG、24 h尿蛋白、Scr、BUN、C-反应蛋白均明显下降，与对照组相比，治疗组血脂有显著下降（P＜0.01）而且24h尿蛋白、Scr、BUN、C-反应蛋白均明显下降(P＜0.05)。结论：辛伐他汀能降低蛋白尿，延缓慢性肾功能不全的进展
目的:探讨早期采用益活清下法治疗重症急性胰腺炎(severe acute pancreatitis,SAP)并肾功能不全的疗效。方法:35 例符合病例选择标准并接受益活清下法治疗的SAP并发肾功能不全患者,按发病后入院时间分为早期组(3d 内入院接受治疗,24例)和晚期组(3～7 d 内入院接受治疗,11例),比较治疗过程中两组患者各并发症的持续时间、病程、手术中转率及病死率。结果:两组入院48小时Ranson 评分、急性生理和慢性健康评价指标Ⅱ(APACHE Ⅱ )评分及CT 评分比较差异无显著性(Pgt; 0.05);早期组急性呼吸窘迫综合征、肾功能不全的持续时间低于晚期组(Plt; 0.05);早期组和晚期组中转手术率分别12.5%(3/24例)和 18.18%(2/11例),差异无统计学意义(Pgt; 0.05);病死率早期组和晚期组分别为 8.33%(2/24例)和9.09%(1/11例),差异无统计学意义(Pgt; 0.05);早期组和晚期组住院病程分别为(20.40±18.25)d 和(34.92±12.62)d,两组比较有统计学意义(Plt; 0.05)。结论:早期使用益活清下法对SAP合并肾功能不全可以取得更好疗效。