ANCA-associated vasculitis and atypical hemolytic uremic syndrome in a patient with DGKE mutation

Буланов Н. М., Козловская Н. Л., Моисеев С. В., Новиков П. И., Щеголева Е. М., Мешков А. Д., Кузнецова Е. И., Боброва Л. А.

Нефрология и диализ

Т. 20, Вып. 2, С. 212-224

Опубликовано: 2018

Тип ресурса: Статья

DOI:10.28996/2618-9801-2018-2-212-224

Аннотация:

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

Ключевые слова:

ANCA-associated vasculitis; Atypical hemolytic uremic syndrome; Complement; Diacylglycerol kinase-ε; Eculizumab; Microscopic polyangiitis; Thrombotic microangiopathy

Язык текста: Русский

ISSN: 1680-4422

Буланов Н. М. Николай Михайлович 1988-

Козловская Н. Л. Наталья Львовна 1951-

Моисеев С. В. Сергей Валентинович 1960-

Новиков П. И. Павел Игоревич 1982-

Щеголева Е. М. Елена Маратовна 1990-

Мешков А. Д. Алексей Дмитриевич 1986-

Кузнецова Е. И. Екатерина Ильинична 1986-

Боброва Л. А. Лариса Александровна 1977-

Bulanov N. M. Nikolay Mikhaylovich 1988-

Kozlovskaya N. L. Natal`ya L`vovna 1951-

Moiseev S. V. Sergej Valentinovich 1960-

Novikov P. I. Pavel Igorevich 1982-

Shhegoleva E. M. Elena Maratovna 1990-

Meshkov A. D. Aleksej Dmitrievich 1986-

Kuznetsova E. I. Ekaterina Il`inichna 1986-

Bobrova L. A. Larisa Aleksandrovna 1977-

ANCA-associated vasculitis and atypical hemolytic uremic syndrome in a patient with DGKE mutation

Текст визуальный непосредственный

Нефрология и диализ

Российское диализное общество

Т. 20, Вып. 2 С. 212-224

2018

Статья

ANCA-associated vasculitis Atypical hemolytic uremic syndrome Complement Diacylglycerol kinase-ε Eculizumab Microscopic polyangiitis Thrombotic microangiopathy

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