BMC Nephrology

Fabry’s disease is a rare X-linked, hereditary lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A. Granulomatosis with polyangiitis is characterized by the involvement of the respiratory tract and kidneys. Here, we report the first case of the coexistence of these diseases. We describe a 29-year-old man suffering from fever with maxillary sinusitis, multiple lung nodules, and proteinuria. He was diagnosed with Fabry’s disease accompanying granulomatosis with polyangiitis on the basis of the low activity of peripheral leukocyte α-galactosidase A and pathological findings in the lung and kidney. Glucocorticoid and cyclophosphamide were administered, followed by enzyme replacement therapy. Progression to end-stage renal disease has not been observed for 6 years until the time of drafting this manuscript. Because both Fabry’s disease and granulomatosis with polyangiitis or crescentic glomerulonephritis are rare diseases, their concurrence in this and related cases suggests there may be a pathogenic link between these two conditions. Fabry’s disease may be underdiagnosed, particularly in cases of granulomatosis with polyangiitis or crescentic glomerulonephritis.

The study examines differences regarding quality of life (QoL), mental health and illness beliefs between in-centre haemodialysis (HD) and continuous ambulatory peritoneal dialysis (CAPD/PD) patients. Differences are examined between patients who recently commenced treatment compared to patients on long term treatment. 144 End-Stage Renal Disease (ESRD) patients were recruited from three treatment units, of which 135 provided full data on the variables studied. Patients consisted of: a) 77 in-centre haemodialysis (HD) and 58 continuous ambulatory peritoneal dialysis (CAPD/PD) patients, all currently being treated by dialysis for varied length of time. Patients were compared for differences after being grouped into those who recently commenced treatment (< 4 years) and those on long term treatment (> 4 years). Next, cases were selected as to form two equivalent groups of HD and CAPD/PD patients in terms of length of treatment and sociodemographic variables. The groups consisted of: a) 41 in-centre haemodialysis (HD) and b) 48 continuous ambulatory peritoneal dialysis (CAPD/PD) patients, fitting the selection criteria of recent commencement of treatment and similar sociodemographic characteristics. Patient-reported assessments included: WHOQOL-BREF, GHQ-28 and the MHLC, which is a health locus of control inventory. Differences in mean scores were mainly observed in the HD patients with > 4 years of treatment, providing lower mean scores in the QoL domains of physical health, social relationships and environment, as well as in overall mental health. Differences in CAPD/PD groups, between those in early and those in later years of treatment, were not found to be large and significant. Concerning the analysis on equivalent groups derived from selection of cases, HD patients indicated significantly lower mean scores in the QoL domain of environment and higher scores in the GHQ-28 subscales of anxiety/insomnia and severe depression, indicating more symptoms in these areas of mental health. With regards to illness beliefs, HD patients who recently commenced treatment provided higher mean scores in the dimension of internal health locus of control, while CAPD/PD patients on long term treatment indicated higher mean scores in the dimension of chance. Regarding differences in health beliefs between equivalent groups of HD and CAPD/PD patients, HD patients focused more on the dimension of internal health locus of control. The results provide evidence that patients in HD treatment modality, particularly those with many years of treatment, were experiencing a more compromised QoL in comparison to CAPD/PD patients.

Burnout syndrome in physicians is associated with adverse patient safety events, poorer quality of care and reduced patients’ satisfaction. There has been scarce information on the risk factors of burnout affecting professionals working in the renal care settings. As yet the phenomenon has not been studied in the population of Polish nephrologists therefore a nationwide cross-sectional study was established by the Polish Society of Nephrology to assess the prevalence of the syndrome. The survey, that consisted of the abbreviated Maslach Burnout Inventory, questions about strategies for dealing with burnout symptoms and demographic data, was distributed during two main national meetings that gather nephrologists in Poland. 177 participants filled out the survey – 64% of participants were women, 88% were specialists and 12% - doctors in training. 52% of participants demonstrated a high level of depersonalization and almost half of the study group showed high level of emotional exhaustion. Reduced personal accomplishment was more pronounced in doctors working mostly in dialysis units compared to other nephrologists (p = 0.017). 37% of participants reported that they treat some patients as they were impersonal objects and 48% felt emotionally drained from their work. 59% of participants would like to take part in the remedy program. Burnout syndrome seems to be an important problem in the population of Polish nephrologists. Doctors working mostly in dialysis settings might be at increased risk of reduced personal accomplishment. The results of the survey may be useful to prepare burnout remedy program.

Our hypothesis was that both the Chronic Kidney Disease-Epidemiology Collaboration (CKD-EPI) and Modification of Diet in Renal Disease (MDRD) equations would underestimate directly measured GFR (mGFR) to a similar extent in people with diabetes and preserved renal function. In a cross-sectional study, bias (eGFR – mGFR) was compared for the CKD-EPI and MDRD equations, after stratification for mGFR levels. We also examined the ability of the CKD-EPI compared with the MDRD equation to correctly classify subjects to various CKD stages. In a longitudinal study of subjects with an early decline in GFR i.e., initial mGFR >60 ml/min/1.73 m2 and rate of decline in GFR (ΔmGFR) > 3.3 ml/min/1.73 m2 per year, ΔmGFR (based on initial and final values) was compared with ΔeGFR by the CKD-EPI and MDRD equations over a mean of 9 years. In the cross-sectional study, mGFR for the whole group was 80 ± 2.2 ml/min/1.73 m2 (n = 199, 75 % type 2 diabetes). For subjects with mGFR >90 ml/min/1.73 m2 (mGFR: 112 ± 2.0, n = 76), both equations significantly underestimated mGFR to a similar extent: bias for CKD-EPI: -12 ± 1.4 ml/min/1.73 m2 (p < 0.001) and for MDRD: -11 ± 2.1 ml/min/1.73 m2 (p < 0.001). Using the CKD-EPI compared with the MDRD equation did not improve the number of subjects that were correctly classified to a CKD-stage. No biochemical or clinical patient characteristics were identified to account for the under estimation of mGFR values in the normal to high range by the CKD-EPI equation. In the longitudinal study (n = 30, 66 % type 1 diabetes), initial and final mGFR values were 102.8 ± 6 and 54.6 ± 6.0 ml/min/1.73 m2, respectively. Mean ΔGFR (ml/min/1.73 m2 per year) was 6.0 by mGFR compared with only 3.0 by MDRD and 3.2 by CKD-EPI (both p < 0.05 vs mGFR) Both the CKD-EPI and MDRD equations underestimate reference GFR values >90 ml/min/1.73 m2 as well as an early decline in GFR to a similar extent in people with diabetes. There is scope to improve methods for estimating an early decline in GFR.

Trong những năm gần đây, sự mất cân bằng trong cân bằng phosphate ở những bệnh nhân mắc bệnh thận giai đoạn cuối đã trở thành mục tiêu nghiên cứu của nhiều chuyên gia. Có vẻ như, mặc dù tăng phosphat huyết có thể là dấu hiệu rõ ràng cho thấy chức năng thận suy giảm, nhưng sự thiếu hụt cân bằng phosphate cũng có thể liên quan đến nguy cơ cao hơn về các biến cố tim mạch và tỷ lệ tử vong, điều này đã trở thành dấu hiệu đặc trưng của bệnh thận giai đoạn cuối. Nhu cầu duy trì nồng độ phốt pho trong giới hạn khuyến nghị được phản ánh trong các hướng dẫn dựa trên bằng chứng. Tuy nhiên, những hướng dẫn này lại không phản ánh nồng độ phốt pho huyết thanh mà đa số bệnh nhân đạt được trong thực tiễn lâm sàng. Với sự khác biệt này, việc xem xét các cách thức để sử dụng hiệu quả hơn chế độ ăn kiêng hạn chế phốt pho và đặc biệt là sử dụng các chất kết dính phốt pho ở những bệnh nhân mắc bệnh thận giai đoạn cuối là điều quan trọng. Thói quen tuân thủ điều trị kém là phổ biến trong các bệnh nhân ESRD và đã được liên kết với việc kiểm soát nồng độ phốt pho huyết thanh không đủ. Các nghiên cứu cho thấy rằng, bên cạnh những yếu tố khác, lý do chính cho việc tuân thủ kém trong điều trị bằng chất kết dính phốt pho bao gồm gánh nặng thuốc nhiều và sự thiếu hiểu biết của bệnh nhân về tình trạng của họ và phương pháp điều trị. Bài tổng quan này kiểm tra các chứng cứ hiện có, nhằm hiểu rõ hơn các lý do cơ bản dẫn đến việc tuân thủ kém ở bệnh nhân mắc bệnh thận giai đoạn cuối và xem xét các chiến lược có thể cải thiện việc tuân thủ trong thực tiễn lâm sàng.

Glomerular disease patients have a high risk of infection, which contributes to the progression of disease per se and mortality, especially in those with long-term use of glucocorticoids and (or) immunosuppressive agents. Cases of sporadic nocardiosis have been reported in glomerular disease patients, and this observation was conducted to comprehensively understand the manifestations of and treatments for nocardiosis, which is commonly misdiagnosed as pneumonia or tuberculosis or even as lung cancer or metastatic tumors in glomerular disease patients. We reviewed the demographic characteristics, laboratory abnormalities, radiological features, and treatments of 7 patients with nocardiosis and glomerular disease receiving steroids and immunosuppression therapy at the nephrology department of the Second Xiangya Hospital between 2012 and 2019. It was found that all 7 patients had been receiving methylprednisolone for renal disease at a median dose of 20 mg per day and a median duration of 4 months before developing nocardiosis. There were 4 males and 3 females, and the median age was 52.14 years. All 7 patients had hypoalbuminemia at the time of admission. In addition, various cystic abscesses in the subcutaneous tissue, with or without lung and brain involvement, were observed in these patients. Encouragingly, body temperatures returned to normal, and subcutaneous abscesses diminished or disappeared with compound sulfamethoxazole treatment alone or in combination with linezolid, imipenem and mezlocillin/sulbactam. It was shown that multisite abscesses, including subcutaneous, pulmonary and cerebral abscesses, were the common manifestations of nocardiosis in glomerular disease patients. Sulfonamide was the first-line antibiotic therapy for nocardiosis, and combinations of other antibiotics were also needed in some serious cases.

Proteinuria, a marker of kidney injury, may be related to skeletal muscle loss. Whether the severity of proteinuria is associated with physical performance is unclear. We examined the association of proteinuria severity with physical performance cross-sectionally in 3357 military young males, free of chronic kidney disease, from the cardiorespiratory fitness and hospitalization events in armed Forces (CHIEF) study in Taiwan. The grades of proteinuria were classified according to one dipstick urinalysis which were collected at morning after an 8-h fast as unremarkable (0, +/−, and 1+), moderate (2+) and severe (3+ and 4+). Aerobic physical performance was evaluated by time for a 3000-m run and anaerobic physical performance was evaluated by numbers of 2-min sit-ups and 2-min push-ups, separately. Multiple linear regressions were used to determine the relationship. As compared with unremarkable proteinuria, moderate and severe proteinuria were dose-dependently correlated with 3000-m running time (β: 4.74 (95% confidence intervals (CI): − 0.55, 10.02) and 7.63 (95% CI: 3.21, 12.05), respectively), and inversely with numbers of 2-min push-ups (β = − 1.13 (− 1.97, − 0.29), and − 1.00 (− 1.71, − 0.28), respectively) with adjustments for age, service specialty, body mass index, blood pressure, alcohol intake, smoking, fasting plasma glucose, blood urea nitrogen, serum creatinine and physical activity. However, there was no association between proteinuria severity and 2-min sit-ups. Our findings show a relationship of dipstick proteinuria with aerobic physical performance and parts of anaerobic physical performance in military healthy males. This mechanism is not fully understood and requires further investigations.

The complement system is vital for innate immunity and is implicated in the pathogenesis of inflammatory diseases and the mechanism of host defense. Complement deficiencies occasionally cause life-threatening diseases. In hemodialysis (HD) patients, profiles on complement functional activity and deficiency are still obscure. The objectives of the present study were to measure the functional complement activities of the classical pathway (CP), lectin pathway (LP) and alternative pathway (AP) using a novel method and consequently to elucidate the rates of deficiencies among HD patients. In the present study, 244 HD patients at one dialysis center and 204 healthy controls were enrolled. Functional complement activities were measured simultaneously using the Wielisa®-kit. The combination of the results of these three pathway activities allows us to speculate which candidate complement is deficient; subsequently, the deficient complement was determined. All three functional complement activities were significantly higher in the HD patients than in the control group (P < 0.01 for all cases). After identifying candidates in both groups with complement deficiencies using the Wielisa®-kit, 16 sera (8.8%) with mannose-binding lectin (MBL) deficiency, 1 serum (0.4%) with C4 deficiency, 1 serum (0.4%) with C9 deficiency, and 1 serum (0.4%) with B deficiency were observed in the HD group, and 18 sera (8.8%) with MBL deficiency and 1 serum (0.5%) with B deficiency were observed in the control group. There were no significant differences in the 5-year mortality rate between each complement-deficient group and the complement-sufficient group among the HD patients. This is the first report that profiles complement deficiencies by simultaneous measurement of functional activities of the three complement pathways in HD patients. Hemodialysis patients frequently suffer from infections or malignancies, but functional complement deficiencies do not confer additional risk of mortality.

Tổn thương thận cấp (AKI) và béo phì là những yếu tố nguy cơ độc lập cho bệnh thận mạn tính (CKD). Nghiên cứu này nhằm xác định liệu béo phì có làm thay đổi nguy cơ cho các kết quả CKD sau AKI hay không. Nghiên cứu đoàn hệ đa trung tâm này theo dõi những người sống sót trưởng thành sau khi nhập viện, có hoặc không có AKI. Kết quả chính là sự kiện CKD kết hợp bao gồm CKD mới mắc, tiến triển của CKD và suy thận, được kiểm tra bằng các mô hình rủi ro tương đối Cox điều chỉnh theo tình trạng tiểu đường, độ tuổi, CKD tồn tại trước đó, tình trạng bệnh tim mạch và việc nhập viện vào đơn vị chăm sóc tích cực, và phân tầng theo trung tâm nghiên cứu. Chỉ số khối cơ thể (BMI) được đưa vào như một biến tương tác để kiểm tra sự thay đổi hiệu ứng theo kích thước cơ thể. Đoàn hệ nghiên cứu bao gồm 769 người tham gia có AKI và 769 đối chứng phù hợp. Sau thời gian theo dõi trung vị là 4,3 năm, trong số những người sống sót sau AKI, tỷ lệ kết quả CKD kết hợp là 84,7 trên 1000 năm người đối với BMI ≥30 kg/m2, 56,4 trên 1000 năm người với BMI 25–29,9 kg/m2, và 72,6 trên 1000 năm người với BMI 20–24,9 kg/m2. AKI có liên quan đến nguy cơ cao hơn của các kết quả CKD kết hợp; HR điều chỉnh là 2,43 (95%CI 1,87–3,16), mà không có bằng chứng cho thấy điều này bị biến đổi bởi BMI (p cho tương tác = 0,3). Sau khi điều chỉnh cho nguy cơ cạnh tranh của tử vong, AKI vẫn có liên quan đến nguy cơ cao hơn của kết quả CKD kết hợp (subdistribution-HR 2,27, 95%CI 1,76–2,92) và tương tự, không có hiệu ứng nào của BMI làm thay đổi nguy cơ này được phát hiện. Trong đoàn hệ sau nhập viện này, chúng tôi không tìm thấy bằng chứng cho thấy béo phì làm thay đổi mối liên hệ giữa AKI và sự phát triển hoặc tiến triển của CKD.

The aim of the study was to assess the correlation of commonly used laboratory tests with clinical activity, degree of kidney involvement and treatment of systemic small-vessel vasculitis with the presence of ANCA antibodies. The study included 28 patients with active AAV (BVAS ≥ 3). The following tests were performed: MPO-ANCA, PR3-ANCA, peripheral blood count, ESR, CRP, procalcitonin, creatinine, GFR, urea, albumin, fibrinogen, d-dimer, components of the C3 and C4 complement systems, urinalysis with sediment evaluation and diurnal proteinuria. The assessments were conducted twice: at study entry (A0) and after 6 months (A6) (BVAS = 0). At the time of inclusion in the study, the mean creatinine concentration was 3.39 mg/dl (GFR 33.17 ml/min/1.73 m²), after achieving remission in 11 patients (39.3 %) GFR remained below 30 ml/min/1.73 m², 4 patients (14.3 %) continued renal replacement therapy, and 3 patients (10.7 %) with advanced renal failure died. Microscopic hematuria occurred in 80.9 % of the studied population, withdrew in most patients, strongly correlated with renal involvement p < 0.001 and was not related to disease severity p = 0.147. CRP, ESR, fibrinogen, d-dimer, albumin and hemoglobin in the peripheral blood showed a strong correlation with the clinical activity of AAV and well identified severe patients. High procalcitonin concentrations correlated with a severe form of the disease, pulmonary involvement with respiratory failure and alveolar hemorrhage (mean 3.41 ng/ml, median 0.91 ng/ml, SD 7.62, p = 0.000), and were associated with the occurrence of infectious complications and the need to administer antibiotic therapy. ANCA antibodies were useful in the evaluation of patients with AAV, the amount of antibodies did not correlate with the severity of vasculitis (p = 0.685) and the results in many patients did not match the expected assumptions. CRP, ESR, fibrinogen, d-dimers, albumin and hemoglobin in the peripheral blood correlate well with the activity of vasculitis and identify severe patients. The resolution of microscopic hematuria suggests remission of the disease in the renal area. Procalcitonin may be slightly increased in patients with active AAV without infection, high concentrations are strongly associated with infectious complications. ANCA antibodies should always be interpreted in the context of the observed clinical symptoms.