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.
ObjectiveTo investigate the influence of enteral nutrition (EN) and total parenteral nutrition (TPN) on liver, kidney and gastrointestinal function in patients after esophagectomy. MethodsA total of 124 patients with esophageal cancer who underwent esophagectomy in the Affiliated Hospital of Guangdong Medical College from January 2012 to August 2013 were enrolled in this study. There were 71 male and 53 female patients with their average age of 59.7 years (range 31 to 85 years). All the patients were randomly divided into an experimental group and a control group. Postoperatively, patients in the experimental group received EN via nasogastric/nasointestinal tube, and patients in the control group received TPN. Preoperatively, 1, 3 and 7 days postoperatively, plasma alanine transaminase (ALT), aspartate transaminase (AST), indirect bilirubin (I_BIL), direct bilirubin (DB), total bilirubin (TB), total protein (TP) and albumin (ALB) were examined to evaluate liver function, blood urea nitrogen (BUN) and serum creatinine (Scr) were examined to evaluate renal function. Postoperative time to first audible bowel sounds, time to first flatus, and time to first stool were examined to evaluate gastrointestinal function. ResultsThere was no statistical difference in ALT, AST, I_BIL, DB or TB preoperatively and on the 1st postoperative day between the 2 groups (P > 0.05), but these parameters of the experimental group were significantly lower than those of the control group on the 3rd and 7th postoperative day (P < 0.05). There was no statistical difference in TP or ALB between the 2 groups (P > 0.05). There was no statistical difference in BUN or Scr preoperatively, on the 1st or 3rd postoperative day between the 2 groups (P > 0.05). BUN (4.94±1.07 mmol/L vs. 6.67± 2.88 mmol/L, P < 0.05) and Scr (52.50±12.46 μmol/L vs. 68.23±7.61 μmol/L, P < 0.05) of the experimental group were significantly lower than those of the control group on the 7th postoperative day. Postoperative time to first audible bowel sounds (42.00±1.68 hours vs. 50.00±1.54 hours), time to first flatus (64.15±10.35 hours vs. 70.64±14.73 hours) and time to first stool (4.20±1.50 days vs. 5.20 ±1.40 days) of the experimental group were significantly shorter than those of the control group (P < 0.05). ConclusionPostoperative EN can promote the recovery of gastrointestinal function, and has less influence on liver and kidney function, which is beneficial to postoperative recovery and morbidity reduction after esophagectomy.
ObjectiveTo investigate the diagnostic value of serum cystatin-C (Cys-C) detection in hypertensive disorder complicating pregnancy patients. MethodsA hundred patients with pregnancy induced hypertension (PIH) were chosen as the research object from February 2012 to March 2013, and they were divided into mild group, moderate group and severe group according to the severity of the disease. The other 40 healthy pregnant women were selected as the controls (the control group). We compared the four groups in terms of Cys-C, serum urea nitrogen (BUN) and creatinine level, as well as the positive rate of Cys-C, BUN, and creatinine. ResultsCys-C, BUN, and creatinine in the PIH group were significantly higher than those in the control group (P<0.05). Cys-C and creatinine in preeclampsia mild group were significantly higher than those in the control group (P<0.05), but BUN level between the two was not statistically significant (P>0.05). Cys-C, BUN, and creatinine in the PIH moderate and severe groups were significantly higher than those in the control group (P<0.05). The abnormal rate of Cys-C in the PIH mild group was significantly higher than that of Cys-C and creatinine (P<0.05). ConclusionCys-C, BUN and creatinine can all show renal damage in PIH patients, but the Cys-C value in early diagnosis is better than that of BUN and creatinine. It can be used as a monitoring index of pregnancy-induced hypertension prevention and early treatment.
Chronic kidney disease (CKD) is now recognized as a worldwide public health challenge, and the incidence rate and hospitalization rate have significantly increased in recent years. Without prompt diagnoses and effective treatment in the early renal function damage of CKD, the symptoms will continue to worsen and eventually develop into end-stage renal disease. Functional imaging techniques such as single photon emission computed tomography (SPECT), contrast-enhanced ultrasound (CEUS), computerized tomography perfusion (CTP), and magnetic resonance perfusion weighted imaging (MR-PWI) could be used to quantitatively analyze renal perfusion and renal filtration function. Their diagnostic values are increasingly evident and have become the research hotspot in evaluating renal function. The aim of this review is to briefly evaluate the research and application advances in the early renal function damage assessment of CKD, so as to raise the efficiency of clinical applications.
ObjectiveTo explore the value of Aquaporin-3 (AQP-3) on the detection of early renal function damage by investigating the expressions of renal AQP-3 mRNA and protein of rats with obstructive jaundice (OJ). MethodsForty mature male Wistar rats were divided into two groups randomly: experimental group (n=20) in which the model of OJ rats was established, and control group (n=20, sham operation group). The levels of serum total bilirubin (TBIL), direct bilirubin (DBIL), creatinine (Cr)， and blood urea nitrogen (BUN) were detected by fullautomatic biochemical analyzer on 7 d and 14 d after operation. The expressions of renal AQP-3 mRNA and protein of rats were detected by RT-PCR and Western blotting, respectively. ResultsThe levels of serum TBIL and DBIL were significantly higher on 14 d than those on 7 d after operation in experimental group (P=0.000), which were significantly higher than those at corresponding time point in control group (P=0.000), while the difference within control group was not significant (P=0.154). Thus, the OJ models of rats were established successfully. The difference of serum Cr levels of rats between inter-and intragroup were not significant (Pgt;0.05). Serum BUN level on 14 d after operation in experimental group was significantly higher than those on 7 d after operation in experimental group and on 14 d after operation in control group (P=0.001), although serum Cr levels were not different between 7 d and 14 d after operation in control group (P=0.288). The expressions of AQP-3 protein of rats on 7 d and 14 d after operation in experimental group were significantly lower than those at corresponding time point in control group (P=0.033, P=0.000), meanwhile on 14 d after operation in experimental group was significantly lower than those on 7 d after operation in experimental group (P=0.000). The expressions of AQP-3 mRNA of rats on 7 d and 14 d after operation in experimental group were significantly higher than those at corresponding time point in control group (P=0.000), but the difference at different time point in two groups was not significant (P=0.139, P=0.059). ConclusionsThe changes of renal AQP-3 protein and mRNA expressions are prior to the changes of serum Cr and BUN levels of rats suffered from OJ complicated renal function damage, which are promised to improve the early diagnosis rate of renal function damage in rats with OJ.
Objective To explore the correlation between metabolic syndrome and renal function in physical examination population. Methods The data of individual physical examination in West China Hospital from March to April 2015 was collected. Body mass index (BMI), glomerular filtration rate (GFR) were calculated, and the correlation between metabolic syndrome and renal function was analyzed by using SPSS 16.0 software. Results A total of 10 098 individuals were included, of which 1 110 were MS patients were included. The results of analysis showed that, the levels of uric acid, cholesterol, urea and creatinine in MS group were significantly higher than those in non-MS group, and the level of GFR was significantly lower than that in non-MS group (P < 0.05). Renal function in patients with abnormal systolic blood pressure, diastolic blood pressure, fasting blood glucose (FBG), low density lipoprotein, total cholesterol, triglycerides, uric acid index were significantly higher than those in normal renal function group, and high density lipoprotein cholesterol was significantly lower than that of normal renal function group (P < 0.01). Conclusion Elevated levels of BMI, blood pressure, glucose, uric acid are correlated with the decrease of GFR, and metabolic syndrome is an important risk factor of renal dysfunction.
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.
目的:探讨住院患者急性肾功能衰竭(ARF)的临床病因方法:回顾性分析139例ARF患者的临床资料,探讨其病因、肾衰类型及危险因素。结果:139例ARF患者中,肾前性90例,肾性37例,肾后性12例。其中,60岁以上的老年人73例,占52.5%。引起ARF的根本病因中,感染、心衰及创伤为引起ARF的主要病因。结论:注意有效血容量不足的症状及体征、及时扩容及控制感染可以减少ARF的发生。同时,60岁以上老年人仍是高危人群,应重在预防。