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• W2045100587 abstract "Introduction: Pregnancy is marked by immunology alteration, with dynamic cytokine production, a decrease of the TH1 response and increase of the TH2 throughout the trimesters. Gaucher disease (GD) is caused by the deficiency of glucocerebrosidase enzyme, leading to lipid accumulation in macrophage lysosomes, culminating with chronic stimulation of the immune system. Objective: Characterize the inflammatory cytokine profile of a pregnant Gaucher patient, correlating to her clinical characteristics during and after pregnancy. Materials and Methods: Blood samples of the patient were collected before pregnancy (sample 1), during each pregnancy trimester (samples 2, 3, and 4), and 2 and 6 months after delivery (samples 5 and 6). The inflammatory cytokines were analyzed and their logarithmic values were compared to the healthy pregnant values (American Journal of Immunology 2010, 64:411–426). Case Report: The patient, genotype p.N370S/L444P, has had the Gaucher diagnosis since 15 years of age when she presented hepatosplenomegaly, pancytopenia, and bone pain. She has been through 11 months of enzyme replacement therapy (ERT) with Imiglucerase (30 UI/kg/inf), showing improvement of visceromegaly and pancytopenia, but bone pain persisted. At 18 years old, the patient became pregnant and continued the ERT at a dose of 30 UI/kg/infusion. The patient reported total improvement of bone pain after the first trimester of pregnancy. There were no complications throughout the gestational period nor during labor. After delivery, she remained 2 months without ERT by choice, experienced worsening of the visceromegaly, and the bone pain returned. After 4 months of ERT (6 months after delivery) she was referred for spontaneous bleeding and persistence of bone pain with improvement of the visceromegaly. Results: Each cytokine profile can be seen in Table 1. Most of the cytokine progressed in accordance to the literature. Interestingly, the cytokines INFγ, TNFα, IL-6, and IL-8, besides having their levels decreased during pregnancy, progressed differently from the expected when compared to the values of healthy pregnant women (Fig. 1). Discussion: Literature data indicate that pregnant patients with Gaucher disease may have exacerbations. In contrast, this pregnant Gaucher patient, appeared to have improvement of her disease, with total resolution of bone pain, which returned after delivery. The hypothesis raised is that her immunology alterations during pregnancy can interfere in the activity of GD, as seen in other autoimmune diseases like rheumatoid arthritis, multiple sclerosis, and uveitis. Clinical worsening after delivery contributes to the hypothesis, since there was an increase in the cytokine levels right after delivery. Conclusion: Those who are pregnant and have GD may not have the same inflammatory cytokine profile as the healthy pregnant women. The cytokine variation during pregnancy may explain clinical improvement of the Gaucher patient, while the elevation of these levels during the post-partum period may explain clinical worsening." @default.
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• W2045100587 date "2015-02-01" @default.
• W2045100587 modified "2023-09-22" @default.
• W2045100587 title "Inflammasome during pregnancy in a Gaucher disease patient" @default.
• W2045100587 doi "https://doi.org/10.1016/j.ymgme.2014.12.275" @default.
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