This study tried to investigate the impact of oXiris filter on both clinical and laboratory parameters in critically‐ill COVID‐19 intensive care unit (ICU) patients receiving extracorporeal blood purification and the clinical setting for the initiation of therapy. A consecutive sample of 15 ICU patients with COVID‐19 was treated with oXiris membrane for blood purification or for support of renal function due to acute kidney injury. We have included 19 non treated ICU COVID‐19 patients as a control group. Two chest x‐rays were analyzed for determining the chest x‐ray severity score. We have found a significant decrease of SOFA score, respiratory status improved and the chest x‐ray severity score was significantly decreased after 72 h of treatment. IL‐6 significantly decreased after 72 h of treatment while other inflammatory markers did not. Respiratory status in the control group worsened as well as increase in SOFA score and chest x‐ray severity score. Survived patients have shorter time from the onset of symptoms before starting with extracorporeal blood purification treatment and shorter time on vasoactive therapy and invasive respiratory support than deceased patients. Critically‐ill patients with COVID‐19 treated with extracorporeal blood purification survived significantly longer than other ICU COVID‐19 patients. Treatment with oXiris membrane provides significant reduction of IL‐6, leads to improvement in respiratory status, chest x‐ray severity score, and reduction of SOFA score severity. Our results can suggest that ICU COVID‐19 patients in an early course of a disease could be potentially a target group for earlier initiation of extracorporeal blood purification.
Background
Infantile free sialic acid storage disease (ISSD) is a severe multisystemic disorder characterized by the accumulation of free sialic acid in lysosomes.
Case presentation
The patient presented prenatally with fetal ascites and large scrotal hernias, without pleural or pericardial effusion. During the infantile period, he was diagnosed with permanent isolated immunoglobulin G (IgG) hypogammaglobulinemia, which thus far has rarely been associated with ISSD. The analysis of the SLC17A5 gene revealed a novel homozygous 94 bp gene deletion. We further provide a detailed description of pre- and postnatal clinical and radiographic findings.
Conclusions
Fetal ascites could be the first sign of several lysosomal storage diseases (LSDs), including ISSD. The analysis of LSD gene panels is an effective approach to diagnosis in the case of non-specific symptoms and when specific biochemical tests are not easily available.
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