Publication: Catastrophic antiphospholipid syndrome accompanied by complement regulatory gene mutation
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Date
2023-03-01
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Abstract
Background. Antiphospholipid syndrome (APS), particularly the catastrophic antiphospholipid syndrome (CAPS), is one of the rare causes of thrombotic microangiopathy (TMA). CAPS is the most severe form of APS, especially when accompanied by complement dysregulation, causes progressive microvascular thrombosis and failure in multiple organs. In this report, a case of CAPS with TMA accompanied by a genetic defect in the complement system is presented.Case. A 13-year-old girl was admitted to the hospital with oliguric acute kidney injury, nephrotic range proteinuria, Coombs positive hemolysis, refractory thrombocytopenia, a low serum complement C3 level and anti-nuclear antibody (ANA) positivity. The kidney biopsy was consistent with TMA. She was first diagnosed with primary APS with clinical and pathological findings and double antibody positivity. As initial treatments, plasmapheresis (PE) was performed and eculizumab was also administered following pulse -steroid and intravenous immunoglobulin treatments. Her renal functions recovered and she was followed up with mycophenolate mofetil, hydroxychloroquine, low dose prednisolone and low molecular weight heparin treatments. The patient presented with severe chest pain, vomiting and acute deterioration of renal functions a few months after the diagnosis of TMA. A CAPS attack was considered due to radiological findings consistent with multiple organ thrombosis and intravenous cyclophosphamide (CYC) was given subsequent to PE. After pulse CYC and PE treatments, her renal functions recovered, she is still being followed for stage-3 chronic kidney disease. Complement factor H-related protein I gene deletion was detected in the genetic study.Conclusions. The clinical course of complement mediated CAPS tends to be worse. Complement system dysregulation should be investigated in all CAPS patients, and eculizumab treatment should be kept in mind if detected.
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Tıp, Dahili Tıp Bilimleri, Çocuk Sağlığı ve Hastalıkları, Sağlık Bilimleri, Medicine, Internal Medicine Sciences, Child Health and Diseases, Health Sciences, PEDİATRİ, Klinik Tıp, Klinik Tıp (MED), PEDIATRICS, CLINICAL MEDICINE, Clinical Medicine (MED), Pediatri, Pediatri, Perinatoloji ve Çocuk Sağlığı, Pediatrics, Pediatrics, Perinatology and Child Health, antiphospholipid antibody syndrome, thrombotic microangiopathy, complement activation, human complement factor H-related protein, THROMBOSIS, antiphospholipid antibody syndrome, thrombotic microangiopathy, complement activation, human complement factor H-related protein
Citation
Pul S., GÖKCE İ., DEMİRCİ BODUR E., Guven S., ÇİÇEK N., SAK M., Turkkan O. N., FİLİNTE D., Pehlivanoglu C., Sozeri B., et al., "Catastrophic antiphospholipid syndrome accompanied by complement regulatory gene mutation", TURKISH JOURNAL OF PEDIATRICS, cilt.65, sa.2, ss.330-337, 2023