Department of Nephrology and Transplantation, Nicosia General Hospital, Nicosia, Cyprus.
Medical School, University of Cyprus, Nicosia, Cyprus.
Nephrol Dial Transplant. 2019 Oct 1;34(10):1780-1788. doi: 10.1093/ndt/gfz021.
Complement factor H-related protein 5 (CFHR5) nephropathy is an inherited renal disease characterized by microscopic and synpharyngitic macroscopic haematuria, C3 glomerulonephritis and renal failure. It is caused by an internal duplication of exons 2-3 within the CFHR5 gene resulting in dysregulation of the alternative complement pathway. The clinical characteristics and outcomes of transplanted patients with this rare familial nephropathy remain unknown.
This is a retrospective case series study of 17 kidney transplant patients with the established founder mutation, followed-up over a span of 30 years.
The mean (±SD) age of patients at the time of the study and at transplantation was 58.6 ± 9.9 and 46.7 ± 8.8 years, respectively. The 10- and 15-year patient survival rates were 100 and 77.8%, respectively. Proteinuria was present in 33.3% and microscopic haematuria in 58.3% of patients with a functional graft. Serum complement levels were normal in all. 'Confirmed' and 'likely' recurrence of CFHR5 nephropathy were 16.6 and 52.9%, respectively; however, 76.5% of patients had a functional graft after a median of 120 months post-transplantation. Total recurrence was not associated with graft loss (P = 0.171), but was associated with the presence of microscopic haematuria (P = 0.001) and proteinuria (P = 0.018). Graft loss was associated with the presence of proteinuria (P = 0.025).
We describe for the first time the clinical characteristics and outcome of patients with CFHR5 nephropathy post-transplantation. Despite the recurrence of CFHR5 nephropathy, we provide evidence for a long-term favourable outcome and support the continued provision of kidney transplantation as a renal replacement option in patients with CFHR5 nephropathy.
补体因子 H 相关蛋白 5（CFHR5）肾病是一种遗传性肾脏疾病，其特征为显微镜下血尿和咽峡炎性肉眼血尿、C3 肾小球肾炎和肾功能衰竭。它是由 CFHR5 基因内的外显子 2-3 内部重复引起的，导致替代补体途径失调。患有这种罕见家族性肾病的移植患者的临床特征和结局仍不清楚。
这是一项对 17 名患有已确定的创始人突变的肾移植患者的回顾性病例系列研究，随访时间长达 30 年。
研究时和移植时患者的平均（±标准差）年龄分别为 58.6±9.9 和 46.7±8.8 岁。10 年和 15 年患者存活率分别为 100%和 77.8%。有功能移植物的患者蛋白尿的发生率为 33.3%，镜下血尿的发生率为 58.3%。所有患者的血清补体水平均正常。“确诊”和“可能”的 CFHR5 肾病复发率分别为 16.6%和 52.9%；然而，76.5%的患者在移植后中位数为 120 个月后仍有功能移植物。总复发与移植物丢失无关（P=0.171），但与镜下血尿（P=0.001）和蛋白尿（P=0.018）的存在有关。蛋白尿的存在与移植物丢失有关（P=0.025）。
我们首次描述了 CFHR5 肾病患者移植后的临床特征和结局。尽管 CFHR5 肾病复发，但我们提供了长期良好结局的证据，并支持继续为 CFHR5 肾病患者提供肾移植作为肾脏替代选择。
