Nephrology最新文献

Atypical hemolytic uremic syndrome is a thrombotic microangiopathy caused by the abnormal activation of the alternative complement pathway. Mutations in complement-related genes and autoantibodies against complement regulators are involved in the pathogenesis of this condition; the frequency of, and prognosis of patients harbouring, each genetic mutation varies based on the region and race. Complement factor I (CFI) mutations have been observed in 4%-8% of cases in Europe; however, they have not yet been reported in Japan. We present the first Japanese case of atypical hemolytic uremic syndrome in a patient harbouring a CFI mutation. An 83-year-old female patient presented with severe acute kidney injury, thrombocytopenia, and hemolytic anaemia following a femoral neck fracture. Plasma exchange and haemodialysis were initiated, resulting in improved kidney function and platelet count. However, the platelet count decreased when plasma exchange was discontinued. Therefore, we administered ravulizumab, an anti-complement 5 monoclonal antibody, which led to the maintenance of stable kidney function and platelet count. Genetic analysis revealed a CFI mutation, and the patient was treated with ravulizumab for 2 years without relapse. Individuals diagnosed with atypical hemolytic uremic syndrome harbouring CFI mutations experience poor outcomes, including low rates of remission, high rates of mortality, and progression to end-stage kidney disease. Our case serves as a crucial example demonstrating how prompt identification and appropriate management can lead to better patient outcomes.

Aim: Using urinary extracellular vesicles (uEVs), we have demonstrated the functional 'renal-K switch' mechanism (the WNK-SPAK-NCC pathway) in both healthy subjects and those with primary aldosteronism. The close relationship between blood pressure and CKD has led to the hypothesis that high potassium intake may be reno-protective through the same mechanism. This study used uEVs to evaluate whether plasma potassium negatively correlates with NCC and its phosphorylation (pNCC) in patients with CKD.

Methods: Morning blood and second morning urine were collected on a single occasion between 8 and 11 AM from patients with various CKD stages. Plasma potassium levels were assessed by a local pathology laboratory. uEVs were obtained by progressive ultracentrifugation, and NCC and pNCC were analysed by western blotting.

Results: Correlation analyses among 23 patients with CKD revealed the abundance of NCC (R² = 0.46, p = 0.0003) and pNCC (R² = 0.30, p = 0.0067) strongly and negatively correlate with plasma potassium. The negative correlations persist among 18 patients who did not receive SGLT2 inhibitors or K-binders (NCC: R² = 0.5, p = 0.002; pNCC: R² = 0.30, p = 0.03) and the negative trends remain among 5 patients who received either SGLT2 inhibitors or K-binders (NCC: R² = 0.64, p = 0.11; pNCC: R² = 0.42, p = 0.24).

Conclusion: In patients with CKD, there are negative correlations between NCC and pNCC in uEVs and plasma potassium, which appear independent of eGFR. This suggests that the mechanism at play is distinct from the overall kidney function, and potassium supplement within a safe level may assist in natriuresis and improve cardiovascular outcomes.

Aim: To characterise the epidemiology and outcomes of Lupus Nephritis (LN) in Fiji.

Methods: All adult LN cases diagnosed from 2016 to 2020 at the national referral hospital were included. Treatment response, kidney failure, dialysis dependence and death were reported.

Results: From 33 cases, a crude annual incidence of 2.44 (95% CI 1.73-3.43) per 100,000 population and an age-standardised incidence of 2.37 (95% CI 0.65-4.09) per 100,000 population was derived. The median age was 25.7 years (IQR 19.5-32) with a predominance of indigenous iTaukei ethnicity (67%). Kidney biopsy with adequate tissue was performed in 24 patients (73%), revealing LN class III in 10 patients (42%) and class IV in 14 patients (58%). Twenty-eight patients (85%) underwent induction immunosuppression, with complete and partial response in 12 patients (43%) and 2 patients (7%) at 12 months, respectively. No factor was found to be significantly associated with complete response at 12 months. At 2 years, 13 patients (39%) had developed kidney failure, 6 of whom commenced dialysis, and 13 patients (39%) had died. The risk of dialysis dependence or death was associated with suboptimal adherence to therapy (OR 12.0, 95% CI 1.23-117, p = 0.028) and 12-month complete response (OR 0.08, 95% CI 0.01-0.54, p = 0.005).

Conclusion: Fiji has a high incidence of LN and nearly half of our cohort had either died or were dialysis dependent within 2 years of diagnosis. These results will inform targeted healthcare strategies that can be implemented in Fiji and neighbouring Pacific Island countries.

Background: The rising growth of patients with end-stage kidney disease (ESKD) associated with chronic liver disease (CLD) and refractory chronic heart failure (CHF) associated with advanced chronic kidney disease (CKD) complicated by ascites presents serious renal replacement therapy (RRT) challenges. Haemodialysis is often poorly tolerated owing to increased hemodynamic instability, bleeding, and encephalopathy risks. Peritoneal dialysis (PD) has emerged as a promising alternative, but its adoption and efficacy are not consistently supported by existing literature, and there lacks guideline consensus.

Methods: We thus used a scoping review approach to more accurately map the literature on PD practice and outcomes in this population.

Results: We identified 18 observational studies involving 627 ESKD patients with CLD/ascites and 222 advanced CKD patients with CHF/ascites. We found practice patterns revealing higher adoption of PD for CLD/ascites in Asia, reflecting the heavier regional PD and viral hepatitis penetration, while there was unique usage for CHF in Western settings. Across contexts, PD demonstrated adaptability for diverse patient profiles. PD as urgent-start and incremental therapy enabled both long-term controlled paracentesis and dialysis while maintaining haemodynamic stability, optimal nutritional status and particularly in CHF improved symptom control, reduced hospitalisation, and lowered diuretics reliance. Mechanical complications were rare and typically manageable whilst peritonitis rates were comparable without impacting technique failure. Survival outcomes were also comparable or superior.

Conclusions: Our findings add valuable insights to PD as a feasible and safe long-term RRT option across the ascitic CKD spectrum. Broader consensus is nonetheless needed on its expansion as a first-line therapy and bridge to both palliation and transplantation.

Aim: To review the clinical characteristics and long-term outcomes of paediatric kidney transplants in Hong Kong.

Method: A retrospective cohort study was carried out on all paediatric kidney transplant recipients managed in the Paediatric Nephrology Centre in Hong Kong from 2009 to 2020. All recipients were under 21 at the time of transplant, with a minimal follow-up period of 2 years.

Results: Sixty-one patients (57.4% male; median age 13 years, IQR: 8.9-17.8) were followed for 6.4 years (IQR 4.3-9.6). The commonest causes of kidney failure were congenital abnormalities of the kidney and urinary tract (34.4%), followed by glomerular diseases (21.3%). 90.2% were deceased donor transplantation. Patient survival rates were 100%, 96.4%, and 96.4% at 1, 5, and 7 years, respectively, and the corresponding graft survival rates were 95.1%, 95.1%, and 89.9%. There were eight graft losses (13.1%). Rejection and chronic allograft nephropathy were the leading causes for graft loss after the first month. Donor age at or above 35 years and the presence of donor-specific antibodies with a history of antibody-mediated rejection (both p < 0.05) were associated with worse graft survival, while medication non-adherence was associated despite being marginally significant (p = 0.056). The rates of CMV syndrome and biopsy-proven BKV nephropathy were 19.7% and 13.1% respectively. 47.5% had short stature at the last follow-up.

Conclusion: Our paediatric kidney transplantation outcomes are favourable and comparable to international benchmarks. Preferential allocation of young donors below 35 to paediatric recipients, reinforce immunosuppressant compliance and early detection of DSA with prompt treatment of ABMR may improve allograft outcomes in paediatric recipients.

Background: There is a growing need to understand how glomerular diseases impact patients' ability to lead a healthy and productive life. We examined the Health-Related Quality of Life (HRQoL) in patients with primary glomerular diseases in India.

Method: In a cross-sectional study, the Patient-Reported Outcomes Measurement Information System (PROMIS) 29v2.1 questionnaire was administered to adults with primary glomerular diseases at the renal clinic. Demographic and clinical data were collected from medical records. Quality of life domain scores were calculated for physical function, pain interference, fatigue, anxiety, sleep disturbance, depression, and ability to participate in social roles and activities. The composite score was derived to reflect the overall HRQoL. Univariable and multivariable linear regression models were run to assess demographic, socio-economic, and clinical predictors of overall and domain-specific quality of life.

Results: Three hundred and one patients were included in the final analysis. 67.2% were male. Edema was present in 16.6% of participants, while 37.2% had recently taken steroids. Female sex (β = -5.3, 95% CI: -7.6 to -3.0, p < 0.001), eGFR < 60 mL/min/1.73 m² (β = -3.3, 95% CI: -5.6 to -0.96, p = 0.006) and obesity (β = -5.6, 95% CI: -9.5 to -1.8, p = 0.004) were independently associated with worse overall HRQoL and negatively affected most individual domains of HRQoL. Edema and steroid use impacted some individual domains but did not affect overall HRQoL. There was no association with education level and per capita income.

Conclusion: These findings underscore the negative impact of female sex, lower eGFR, body weight, edema, and recent steroid intake on HRQoL in adults with primary glomerular diseases. The implications of these results extend to the optimisation of long-term care for patients by addressing their concerns and priorities.

Recent progress in gas-sensing technology has enabled the rapid collection and highly sensitive analysis of skin gases associated with body odour. Skin gases can be collected less invasively, more continuously, and less consciously than blood or urine. Patients with end-stage kidney disease (ESKD) have a characteristic uremic odour that fades after initiating kidney replacement therapy. We investigated the potential for objectively and quantitatively evaluating the factors underlying uraemia. Skin gases were collected using a passive flux sampler placed on the forearm, with peak intensities measured using gas chromatography-mass spectrometry (GC/MS). We investigated the changes in skin gases obtained from the haemodialysis (HD) group before and after the first HD session of patients undergoing incident dialysis and compared them between the ESKD groups (HD and non-HD) and the healthy group. Thermal desorption enabled the collection of volatile molecules for 20 min using GC/MS preprocessing. Amongst 137 volatile molecules collected from the HD group (N = 5), 16 were detected in all patients. Aldehydes and alkanes were detected more frequently, and four volatile molecules, including 6-methyl-5-hepten-2-one, were detected in all participants in the ESKD (N = 11) and healthy (N = 7) groups. Benzaldehyde and undecanal showed significantly higher intensities in the ESKD group. Additionally, five unidentified volatile molecules were undetectable after dialysis, suggesting an association with the uremic odour. A comprehensive skin gas analysis technique has enabled the identification of volatile molecules related to ESKD. With a short sampling time, skin gas analysis has potential applications in clinical testing and telemedicine.

Nocardial peritonitis is rare and difficult to diagnose and treat in patients on continuous ambulatory peritoneal dialysis (CAPD). Nocardia-related PD peritonitis has high mortality. There is not much data on the reinsertion of peritoneal dialysis catheters after PD peritonitis. We describe a case of nocardial peritonitis associated with septic shock necessitating Tenckhoff catheter removal. After appropriate treatment with 7 months of trimethoprim-sulfamethoxazole, the PD catheter was reinserted. After 1 year, the patient continues to be on CAPD without recurrence.

Aim: The prevalence and associated factors of dialysis-related sarcopenia could vary greatly according to gender. This study aimed to determine the prevalence of sarcopenia in haemodialysis patients according to gender and to assess some factors related to sarcopenia.

Methods: A cross-sectional study was conducted in maintenance haemodialysis patients. Muscle mass was measured after a dialysis session using bioelectrical impedance analysis. The Asian Working Group for Sarcopenia 2019 definition was applied to diagnose sarcopenia. Logistic regression analysis was applied to determine the associations between several factors and sarcopenia in each gender group.

Results: Among 270 participants (50.7% males, age 52.4 ± 13.8), 47 males (34.3%) and 75 females (56.4%) had sarcopenia. According to multivariate logistic regression, the correlates in males were age (OR 1.035, 95% CI 1.001-1.070, p = 0.044), BMI (OR 0.704, 95% CI 0.582-0.852, p < 0.001), dialysis vintage (OR 1.084, 95% CI 1.019-1.153, p = 0.011) and low income (OR 2.49, 95% CI 1.09-5.65, p = 0.03). In females, age (OR 1.053, 95% CI 1.017-1.091, p = 0.003), BMI (OR 0.746, 95% CI 0.619-0.899, p = 0.002), dialysis vintage (OR 1.109, 95% CI 1.017-1.209, p = 0.019), poor nutritional status (OR 5.17, 95% 2.01-13.28, p = 0.001), and polypharmacy (OR 5.12, 95% CI 1.43-18.42, p = 0.012) were associated with sarcopenia.

Conclusion: Our study showed that sarcopenia was common among haemodialysis patients, and female patients were more susceptible to sarcopenia. There are differences in gender-specific associated factors of sarcopenia.