BMC nephrology · 2018
C3 glomerulonephritis and thrombotic microangiopathy of renal allograft after pulmonary infection in a male with concomitant two complement factor I gene variations: a case report.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Wen Jiqiu, Wang Wei, Xu Feng, Sun Jun, Chen Jinsong, Ni Xuefeng
Аннотация
BACKGROUND: It has been suggested that C3 glomerulonephritis (C3GN) and atypical hemolytic-uremic syndrome (a stereotypical phenotype of thrombotic microangiopathy), two rare entities caused by complement alternative pathway dysregulation share overlapping genetic origin and can be triggered by infections.
CASE PRESENTATION: We report a case of concomitant C3GN and thrombotic microangiopathy (TMA) after pulmonary infection in a young male receiving kidney transplantation. Genetic assessment revealed two missense variations in compound heterozygous form in CFI gene (complement factor I). These two variations are segregated with disease in the core family member of this patient. Plasma CFI levels of the patient and family members were all in normal range. We considered that these two variations only impair CFI function rather than its quantity in the serum.
CONCLUSION: Our case supports that C3GN and TMA shared overlapping genetic variations and might be triggered by infection in genetically susceptible patients after kidney transplantation.
CASE PRESENTATION: We report a case of concomitant C3GN and thrombotic microangiopathy (TMA) after pulmonary infection in a young male receiving kidney transplantation. Genetic assessment revealed two missense variations in compound heterozygous form in CFI gene (complement factor I). These two variations are segregated with disease in the core family member of this patient. Plasma CFI levels of the patient and family members were all in normal range. We considered that these two variations only impair CFI function rather than its quantity in the serum.
CONCLUSION: Our case supports that C3GN and TMA shared overlapping genetic variations and might be triggered by infection in genetically susceptible patients after kidney transplantation.