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ANCA-associated vasculitis and atypical hemolytic uremic syndrome in a patient with DGKE mutation
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01.01.2018 |
Bulanov N.
Kozlovskaya N.
Moiseev S.
Novikov P.
Shchegoleva E.
Meshkov A.
Kuznetsova E.
Bobrova L.
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Nephrology and Dialysis |
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Ссылка
© 2018 S. Karger AG.All right reserved. We present a clinical case of a 34 years old female patient who simultaneously developed two rare conditions: microscopic polyangiitis and atypical hemolytic uremic syndrome (aHUS) associated with a polymorphism in diacylglycerol kinase-ε gene (DGKE), which seems to be the first case of aHUS associated with DGKE mutation in an adult patient. We suggest that the patient experienced chronic subclinical course of thrombotic microangiopathy (TMA) since adolescence, because persistent proteinuria and slowly progressive chronic kidney disease were first found when she was at the age of 13. She developed ANCA-associated vasculitis at the age of 34 with dialysis-dependent renal failure and alveolar hemorrhage that were accompanied by an acute episode of TMA. Treatment with high-dose of corticosteroids, cyclophosphamide and plasmapheresis was initiated. Alveolar hemorrhage have been resolved. However, severe hypertension, hemolytic anemia and thrombocytopenia persisted despite treatment. Plasma resistance was considered to be an indication for treatment with eculizumab, which proved to be beneficial. However, kidney function did not recover. Possible interactions between complement system, DGKE and their possible role in the pathogenesis of TMA are discussed.
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Clinical features of kidney involvement in microscopic microscopic polyangiitis
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01.01.2018 |
Shchegoleva E.
Bulanov N.
Novikov P.
Moiseev S.
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Terapevticheskii Arkhiv |
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© 2018 Media Sphera Publishing Group. All rights reserved. Aim. To evaluate clinical features and outcomes of renal involvement in patients with microscopic polyangiitis (MPA). Materials and methods: We enrolled 99 patients with MPA, diagnosed in accordance with the algorithm of the European Medicines Evaluation Agency (EMEA) and the Chapel Hill consensus conference definition (2012). Serum creatinine (sCr), estimated glomerular filtration rate (EGFR), hematuria and proteinuria were estimated. Frequency of rapidly progressive renal failure (a twofold increase in the sCr level in ≤3 months) was regarded as the clinical equivalent of rapidly progressive glomerulonephritis (RPGN). Results and discussion. Renal involvement was present in 92 (92.9%) patients. RPGN developed in 51 (55,4%) patients. The most common features of kidney involvement were hematuria and subnephrotic proteinuria. Arterial hypertension was revealed in 32 (34.7%) patients and was associated with RPGN (p<0.004). End-stage renal disease (ESRD) developed in 11 (11.9%) patients. Despite effective induction therapy disease relapses occurred in 20 (21.1%) patients during the 1st year, including renal relapses in 12 (13.3%) cases. During 5-year follow up 34 (37.1%) patients developed disease relapses, including renal relapses in 22 (24.4%) patients. Conclusion. Renal involvement is one of the most common manifestations of MPA with a high frequency of RPGN. More than one third of patients develop disease relapses despite adequate therapy.
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