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.

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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.

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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, Kraków, Wrocław, Poznań, Gdańsk, Warszawa, 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.

Introduction: Low molecular proteins are established markers of kidney graft function. The peritransplant events modify serum and urine ;1microglobulin ( ;1M). ;2microglobulin ( ;2M) as well as neutrophil gelatinase-associated lipocalin (NGAL). interleukin18 (IL-18) release. The mechanism of those protein concentration changes is not completely clear in an early period after kidney transplantation (kTx). The aim of the study was to seek correlations between neutrophils (PMN) activation (EL-;1PI complex) and classic ( ;1M, ;2M) as well as novel (NGAL, IL-18) kidney graft tubulo-intestinal injury markers measured in blood and urine of deceased renal allograft recipients. Patients and methods:The study was performed on the 24 kidney graft recipients from the deceased donors. The plasma and urine EL-;1PI were analyzed 3 times in the fi rst week after kTx (on postoperative (PO) days 1, 3, 7) by ELISA test. The other kidney injury markers in serum and urine were measured similarly on days 1, 3, and 7. NGAL, IL-18 and ;2M were measured by ELISA test. Serum and urine ;1M test was done by nephelometric method. Results: There was an important positive correlation between plasma EL-;1PI (pEL) and serum NGAL on 1 and 3rd PO day (p<0,02 and 0,002 respectively). Strong correlation was observe between urine EL-;1PI (uEL) on 1st PO day and serum NGAL on day 3 and 7 (p<0,03 and p<0,001 respectively). Urine EL on 1 PO day correlated with urine NGAL on 3 and 7 PO day (p<0,009 and p<0,001 respectively). There was no important association between EL-;1PI (in plasma and urine) and IL-18 level in serum and urine.

Background and Aims A significant deterioration of cognitive function in hemodialysis patients is observed in elderly and non-elderly patients. One of possible explantation is significant changes in the circulatory system caused by regular lower cerebral regional saturation of oxygen (rSO2) during dialysis. We aimed to identify the factors affecting the cerebral rSO2 in HD patients during session. Method 27 patients out of 80 hemodialysed in center patients were recruited for the study (exclusion criteria: significant vision defect, fistula in the dominant hand, previous stroke, other neurological diseases impaired cognitive functions). The mean age of the patients was 51 ±18 y, BMI 25.5±5, dialysis vintage was 2.3 y; 6 with DM and 22 with HT. During the study, each patient completed battery of cognitive function tests (MOCA, Beck's Scale) including computer based assessment validated for elderly (Cognifit), arterial stiffness surrogates (PWV, Aix75 using IEM Mobil-O-Graph) and the saturation (rSO2) of frontal lobes were measured (INVOS 5100c system). Patient regular passive or active (reading, crosswords solving, electronic games) behaviour during sessions was noticed. Results Factors showed correlations with rSO2 are displayed in table. Lack of correlations between rSO2 and HD vintage, diabetes or BMI was observed. Patients mentally active during dialysis showed significant (p&lt;0.05) higher rSO2 (60 vs 53% left, 58 vs 49% right), Cognifit score (368 vs 233) and PWV (6,3 vs 9,3 m/s) when compared to passive patient behavior (sleeping, watching TV). Conclusion Significant differences in cerebral oxygenation in hemodialysis patients correlated with cognitive functions. In HD patients, cerebral rSO2 was affected by multiple factors, including non modifiable factors: arterial stiffness, age and modifiable factors – active mental activity during session and smoking. Furthermore, this is the first report describing lower levels of rSO2 in HD patients with significant central arterial stiffness (Figure).