Urine Cystatin C Determination in the Establishment of Reference Interval in the Diagnosis and Treatment of Renal Injury

Objective: To establish the diagnostic concentration range of urine cystatin C and the control level of urine cystatin C for patients with renal injury, and to help promote the establishment of standardization of urine cystatin C detection. Methods: 150 urine specimens and blood specimens from kidney injury patients and healthy people were collected, and stored in the refrigerator at -80°C for later use. After the specimens were collected, they were uniformly tested. Comparing the difference of blood and urine cystatin C between the kidney injury group and the healthy control group, the application value of urine cystatin C in the diagnosis and treatment of kidney injury was put forward. Results: The concentrations of cystatin C in urine and blood of renal injury group were 1.04 ± 2.14 mg/L and 1.94 ± 2.36 mg/L respectively;the concentrations of cystatin C in urine and blood of healthy control group were 0.11 ± 0.05 mg/L and 0.83 ± 0.20 mg/L respectively. The urine and blood cystatin C of the kidney injury group were significantly higher than those of the healthy control group. Compared the results of the two groups, the t values were 5.3210 and 5.7399, respectively. The P value is 0.0000;the difference is statistically significant;in comparison of urine and blood cystatin C in the kidney injury group, the value is that t = 3.4600, P = 0.0003;in comparison of urine and blood cystatin C in the healthy control group, the value is that t = 42.7744, P = 0.0000. By investigating the urine cystatin C concentration of patients with kidney injury, whether it is kidney injury or healthy controls, urine cystatin C is significantly lower than blood cystatin C. Conclusion: According to the results of this study, the concentration of urinary cystatin C in the healthy control group is 0.11 ± 0.05 mg/L. The reference interval of urinary cystatin C proposed in this study is 0.06 - 0.16 mg/L, which can be established by comprehensive multi center research. Through a multi-center study of the baseline level of urinary cystatin C in patients with renal injury, the diagnostic concentration interval of urinary cystatin C and the control level of urine cystatin C for renal injury patients were established.

Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia:A case report

BACKGROUND Approximately 10%of adults and nearly all children who receive renal replacement therapy have inherited risk factors or are related to genetic factors.In the past,due to the limitations of detection technology and the nonspecific manifestations of uraemia,the etiological diagnosis is unclear.In addition to common monogenic diseases and complex disorders,advanced testing techniques have led to the recognition of more hereditary renal diseases.Here,we report a four-generation Chinese family in which four individuals had a novel SALL1 mutation and presented with uraemia or abnormal urine tests.CASE SUMMARY A 32-year-old man presented with end-stage renal disease with a 4-year history of dialysis.His father and paternal aunt both had a history of unexplained renal failure with haemodialysis,and his 10-year-old daughter presented with proteinuria.The patient had multiple congenital abnormalities,including bilateral overlapping toes,unilateral dysplastic external ears,and sensorineural hearing loss.His family members also presented with similar defects.Genetic testing revealed that the proband carried a novel heterozygous shift mutation in SALL1_exon 2(c.3437delG),and Sanger sequencing confirmed the same mutation in all affected family members.CONCLUSION We report a novel SALL1 exon 2(c.3437delG)mutation and clinical syndrome with kidney disease,bilateral overlapping toes,unilateral dysplastic external ears,and sensorineural hearing loss in a four-generation Chinese family.

Neuromuscular Electrical Stimulation in Intensive Care Unit Patients:Integrative Review

Intensive care units’ acquired muscle weakness is present in approximately 50% of the patients. Although active muscle training can attenuate weakness, a large proportion of critical patients cannot participate in any active mobilization. Neuromuscular electrical stimulation may be an alternative strategy to reverse muscle weakness. The objective of the study was to review the scientific publications on the use of neuromuscular electrical stimulation and its parameters and the main results in patients hospitalized in intensive care units. This is an integrative review surveying studies in online databases. The studies were selected from the following descriptors: neuromuscular electrical stimulation AND parameters AND intensive care units AND muscle weakness. The inclusion criteria included articles that addressed the topic of neuromuscular electrical stimulation and the parameters used in patients admitted to intensive care units, aged 18 years or older. Exclusion criteria were studies involving animals, case reports, letters to the editor and book chapters. The search comprised articles in the Portuguese, English and Spanish languages from January 2013 to March 2019. Of the 185 articles identified, nine met the eligibility criteria. The studies were evaluated assessing the level of evidence, and the relevant information was presented in the table and discussed. The parameters of the neuromuscular electrical stimulation employed in the studies showed positive results for the maintenance of strength and muscle mass. There was evidence of benefits in the local and systemic microcirculation, potentially mobilizing endothelial stem cells, to prevent atrophy, to reduce mechanical ventilation time and stay in intensive care unit;and when incorporated into the usual physiotherapy care, proved to be more effective than usual care. Its use is safe and viable in critically ill patients.

Long-term prognosis of focal segmental glomerulosclerosis treated with therapeutic low-density lipoprotein-apheresis in patients with severe kidney dysfunction and proteinuria

Background:The prognosis of focal segmental glomerulosclerosis patients with nephrotic syndrome is estimated to be 10%-20%in 5 years and 30%-50%in 10 years,leading to end-stage kidney disease.The response rate with steroid therapy is 40%-60%.Therapeutic low-density lipoprotein-apheresis(LDL-A)may be effective in patients with steroid resistance.Information regarding the long-term prognosis of patients with focal segmental glomerulosclerosis receiving this therapy is scarce.Methods:We investigated the effectiveness of treatment in 50 patients with primary focal segmental glomerulosclerosis diagnosed between 1961 and 2017 at Kanazawa University Hospital and related facilities.The patients were observed at least 12 months after biopsy or until end-stage kidney disease occurrence or death.Results:LDL-A was performed in four patients who presented with steroidresistant nephrotic syndrome(two patients had concurrent acute renal failure for which hemodialysis was performed).In comparison with 17 patients who did not receive LDL-A after 1989,the LDL-A group had higher urinary protein excretion(13.7 vs.5.2 g/day,P=0.053)and serum creatinine(4.11 vs.1.65 mg/dL)levels at onset,and a numerically higher remission rate(75.0%vs.58.7%)compared with the nonlipoprotein-apheresis group.Conclusion:Therapeutic LDL-A can be performed for critical cases and may improve the remission rate.