Objective. ANCA-associated vasculitides (AAV) are a heterogeneous group of rare diseases with unknown aetiology and the clinical spectrum ranging from life-threatening systemic disease, through single organ involvement to minor isolated skin changes. Thus, there is an unmet need for phenotype identification, especially among patients with granulomatosis with polyangiitis (GPA). Patients with microscopic polyangiitis (MPA) seem to be clinically much more uniform. Recently, three subcategories of AAV have been proposed and described as non-severe AAV, severe PR3-AAV, and severe MPO-AAV. Methods. In line with these attempts, we decided to use an unbiased approach offered by latent class analysis (LCA) to subcategorise GPA and MPA in a large cohort of Polish AAV patients included in a multicentre POLVAS registry. Results. LCA of our AAV group identified a four-class model of AAV, including previously proposed three subphenotypes and revealing a fourth (previously not described) clinically relevant subphenotype. This new subphenotype includes only GPA patients, usually diagnosed at a younger age as compared to other groups, and characterised by multiorgan involvement, high relapse rate, relatively high risk of death, but no end-stage kidney disease. Conclusion. Based on multiple clinical and serological variables, LCA methodology identified 4-class model of AAV. This newly described fourth class of AAV may be of clinical relevance and may require prompt diagnosis and aggressive treatment due to the multio-rgan involvement, high risk of relapse and marked mortality among these relatively young GPA subjects.
Fabry disease (FD) is an ultra-rare genetic lysosomal storage disease caused by pathologic gene variants resulting in insufficient expression of α-galactosidase A. This enzyme deficiency leads to accumulation of globotriaosylceramide and globotriaosylsphingosine in plasma and in different cells throughout the body, causing major cardiovascular, renal, and nervous system complications. Until 2018, reimbursed enzyme replacement therapy (ERT) for FD was available in all European Union countries except Poland. We present the preliminary results of the first two years of reimbursed ERT in Poland. We obtained data from the seven largest academic centers in Katowice, Cracow, Wrocław, Poznań, Gdańsk, Warsaw, and Łódź. The questionnaire included the following data: number of patients treated, number of patients qualified for ERT, and patient characteristics. All centers returned completed questionnaires that included data for a total of 71 patients (28 men and 43 women) as of June 2021. Thirty-five patients with the diagnosis of FD confirmed by genetic testing (22 men and 13 women) had already qualified for reimbursed ERT. Mean (SD) age at the commencement of the ERT program was 39.6 (15.5) years (range 18-79 years). Mean time from the first clinical symptoms reported by the patients to the FD diagnosis was 21.1 (8.9) years, and the mean time from the final diagnosis of FD to the beginning of ERT was 4.7 (4.6) years. FD is still underdiagnosed in Poland. To identify undiagnosed FD patients and to ensure that patients in Poland benefit fully from ERT, implementation of an effective nationwide screening strategy and close cooperation with a network of rare disease centers is advised.
No abstract
The increase in number of obese people seen in the general population, is also what is seen in the hemodialyzed population. It is generally believed that the location of deep forearm vessels in the subcutaneous fat tissue makes primary arteriovenous fistula (AVF) a disadvantage because of difficulties in vessel puncturing. For obese patients, it is suggested that a fistula with PTFE is created or a central catheter inserted, but these solutions increase already high morbidity rate and significantly increase mortality rate. Methods: The deep location of veins situated on the anterior part of the forearm involved 57 patients (45 female and 12 male) aged 13–87 years (mean 67 ± 15.2 years). Patients’ body mass index (BMI) ranged from 29.1 to 53.73 (mean 34.6 ± 7.8). The causes of the renal failure were diabetic nephropathy in 30 patients, chronic glomerulonephritis in 4, hypertensive nephrosclerosis in 5, lupus nephritis in 2, interstitial nephritis in 4, primary amyloidosis in 1, polycystic kidney disease in 3, and unknown in 3 patients.Two‐step surgical procedure was performed in all patients. In the first stage, the standard distal radiocephalic AVF in the wrist region was created. In case of its failure, the next attempt was performed above the point of the first intervention. In the second stage, superficialization of the venous part of AVF was performed in the mode described by us (Kidney 2002;.1:1170). Results: The first stage of the procedure was successful in 46 patients. In 6 cases it was necessary to perform a second attempt, and 2 cases required three operations. The second stage was undertaken in all of these patients (n = 54), and complete success was achieved in 51. In 3 cases, in spite of superficialization, AVF was not suitable for puncturing because of poor blood flow. The causes of failure of the first stage procedure in 2 patients were severe arteriosclerosis and venous anomaly. All patients had non‐altered cephalic veins in the wrist region, as opposed to patients with cannulated veins. In 51 pts (90%) an efficient flow of the blood through AVF was successfully obtained and allowed satisfactory dialyses. Conclusions: The primary AVF creation on the forearm is feasible in 90% of obese patients. This result is similar to the general population of chronic renal disease patients of our center (95%)(NDT 1998;13:527) and is possible thanks to the location of the veins deep in the subcutaneous fat tissue, which protects against repeated cannulation and hence mechanical destruction in the pre‐dialysis period.
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