Pediatric transplantation · 2025
Hidden in CAKUT: Post-Transplant Diagnosis of Primary Hyperoxaluria Type 1 and Rescue Management Using Lumasiran.
Клинический случайСтатьяНазвание 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.
Bahbah Hebatallah, Azzam Ahmed, Hamed Ammar, Aldaoud Najla, Alshami Alanoud
Аннотация
INTRODUCTION: Primary hyperoxaluria type 1 (PH1) is a very rare inherited metabolic disorder characterized by excessive oxalate production due to mutation variants in the alanine-glyoxylate aminotransferase gene (AGXT). Approximately 4% of PH1 cases are diagnosed after kidney transplantation. Most post-transplant recurrences of PH1 are associated with poor graft outcomes. Lumasiran, a novel RNA interference (RNAi) therapeutic for PH1, was recently discovered with promising results.
METHODS: This report describes a pediatric case of PH1 diagnosed post-kidney transplantation with graft dysfunction who was treated with extensive hemodialysis and lumasiran as rescue therapy.
RESULTS: Patient was able to stop hemodialysis with the improvement of her kidney function and plasma oxalate after the fourth dose of lumasiran.
CONCLUSION: This case underscores the importance of maintaining a high index of suspicion for PH1 in patients with congenital anomalies of the kidney and urinary tract (CAKUT) or unexplained end-stage kidney disease (ESKD) cases, even post-transplantation. It also demonstrates the potential efficacy of lumasiran in managing PH1 post-transplantation when combined with intensive hemodialysis and supportive care. However, more studies with prolonged follow-up periods are necessary to establish the long-term efficacy and safety of lumasiran in the treatment of PH1 without the requirement for liver transplantation.
METHODS: This report describes a pediatric case of PH1 diagnosed post-kidney transplantation with graft dysfunction who was treated with extensive hemodialysis and lumasiran as rescue therapy.
RESULTS: Patient was able to stop hemodialysis with the improvement of her kidney function and plasma oxalate after the fourth dose of lumasiran.
CONCLUSION: This case underscores the importance of maintaining a high index of suspicion for PH1 in patients with congenital anomalies of the kidney and urinary tract (CAKUT) or unexplained end-stage kidney disease (ESKD) cases, even post-transplantation. It also demonstrates the potential efficacy of lumasiran in managing PH1 post-transplantation when combined with intensive hemodialysis and supportive care. However, more studies with prolonged follow-up periods are necessary to establish the long-term efficacy and safety of lumasiran in the treatment of PH1 without the requirement for liver transplantation.