The prevalence of Fabry disease in a Turkish population with chronic kidney patients.

BACKGROUND AND OBJECTIVES: Fabry disease (FD) is an X-linked lysosomal storage disease with various clinical symptoms due to a deficiency of an enzyme called alpha-galactosidase A. The likelihood of nephropathy increases with age and the severity of the mutation in Fabry patients. Fabry disease is difficult to diagnose. The exact incidence and prevalence of Fabry disease are unknown due to its atypical or oligosymptomatic forms. DESIGN, SETTING, PARTICIPANTS, AND MEASUREMENTS: GLA gene mutations were examined in patients over the age of 18 who were followed up on with a diagnosis of chronic kidney disease and who had or did not receive renal replacement therapy from October 2017 to December 2019. RESULTS: A total of 18 sites in 8 locations around Turkey volunteered to participate in the study, including people aged 18 and older with stages 1-5 of chronic kidney disease (CKD) or getting renal replacement therapy. 1904 patients were screened in total. In 13 cases, a D313Y pseudo mutation in the GLA gene was discovered. GLA gene mutations were found and pathologically assessed in four of the tested cases. CONCLUSIONS: The range of clinical symptoms of Fabry disease, as well as the frequent delays in diagnosis, result in treatment being too late. We believe that screening chronic renal patients at high risk for Fabry disease is warranted.

The effect of rituximab on encapsulated peritoneal sclerosis in an experimental rat model

Background/aim: Peritoneal sclerosis may be observed in varied manifestations. However, the most serious form is the encapsulated peritoneal sclerosis. We researched the effect of rituximab on peritoneal fibrosis in an experimental rat model. Materials and methods: Twenty-four Wistar Albino rats were divided into 4 equal groups. During weeks 0­3; group I received isotonic saline (IS) solution, group II, group III, and group IV received chlorhexidine gluconate (CG) via intraperitoneal (i.p.) route. In the next 3 weeks nothing adminestred to both group I and group II but IS solution was adminestred to group III via i.p. route and 375 mg/m2/week rituximab was applied intravenously on days 21, 28, and 35 to group IV. Fibrosis, peritoneal thickness, and inflammation were evaluated. Immunohistochemical methods used for the detection of matrix MMP-2, TGF-ß1, and VGEF expressions. Results: The rituximab (group IV) had significantly lower fibrosis and peritoneal thickness scores than the group II and III (P < 0.001). TGF-ß1 and VEGF expressions were significantly lower in the rituximab group than in the group II and III (P < 0.001). Conclusion: We found that rituximab had a significant effect on the peritoneal thickness, total fibrosis, TGF-ß1 and VGEF scores which were induced by CG.

Abatacept as a therapeutic option in the treatment of encapsulated peritoneal sclerosis: an experimental rat model.

PURPOSE: Encapsulated peritoneal sclerosis (EPS) is a rare complication of long-term peritoneal dialysis (PD) and is usually associated with mortality. Inflammation is a leading factor for developing EPS. This study aimed to investigate the effect of abatacept on peritoneal fibrosis and inflammation using the EPS rat model. METHODS: Twenty-four Wistar albino rats were randomly divided into four equal groups. Group I (control group) was administered isotonic saline (IS) via the intraperitoneal (ip) route during weeks 0-3. Chlorhexidine gluconate (CG) ip was administered to group II (CG group) during weeks 0-3. Group III (CG + IS group) received CG for the first 21 days and IS solution for the following 3 weeks. Group IV (abatacept group) received CG during weeks 0-3, and subsequently, 50 mcg/day abatacept during weeks 4-6. Peritoneal thickness, fibrosis, and inflammation were examined using light microscopy. Expressions of matrix metalloproteinase-2 (MMP-2) and transforming growth factor-beta 1 (TGF-ß1) were detected by immunohistochemical staining. RESULTS: Lesser peritoneal thickness and lower inflammation score were observed in the abatacept group than in the CG and CG + IS groups (p < 0.05). Furthermore, the abatacept group had a lower fibrosis score than the CG + IS group (p < 0.05). MMP-2 and TGF-ß1 scores were lower in the abatacept group than in the CG + IS group (p < 0.05). CONCLUSIONS: The results revealed that abatacept had a histopathological beneficial effect on peritoneal fibrosis, inflammation, MMP-2, and TGF-ß1 scores, which were induced by CG. Abatacept could be a new therapeutic option for treating EPS.