Aakre K M, Tøndel C, Brun A, Svarstad E
1Laboratory of Clinical Biochemistry, Haukeland University Hospital, Bergen, Norway.
Clin Nephrol. 2009 Feb;71(2):118-24. doi: 10.5414/cnp71118.
The renal prognosis in Fabry disease is better when enzyme replacement therapy (ERT) is initiated before glomerular filtration rate (GFR) deteriorates. Current studies evaluating kidney function in Fabry disease are mainly based on the MDRD equation. The aim of this cross sectional study was to compare estimated and measured GFR in adult Fabry patients with normal or near normal kidney function.
Iohexol GFR (mGFR) was compared to estimated GFR (eGFR) (MDRD, Cockcroft-Gault and Counahan-Barratt equations) in 8 male and 13 female Fabry patients with minimal albuminuria and mean mGFR of 94 ml/min/1.73 m2 for both genders.
A significant overestimation of eGFR-MDRD by 24 ml/min/1.73 m2 was seen in male Fabry patients. The performance of the MDRD equation was similar to mGFR in female Fabry patients. GFR was significantly overestimated by the Cockcroft-Gault equation, whilst Counahan-Barratt equation gave results in agreement with mGFR for both male and female Fabry patients.
Overestimation of eGFR-MDRD in Fabry patients with CKD stage 1 - 2 and minimal albuminuria may prevent recognition of early progressive renal failure and delayed ERT initiation may be the consequence. Exact GFR markers should be part of the routine evaluation of GFR in Fabry patients.
在肾小球滤过率（GFR）恶化之前开始酶替代疗法（ERT）时，法布里病的肾脏预后较好。目前评估法布里病肾功能的研究主要基于MDRD方程。本横断面研究的目的是比较肾功能正常或接近正常的成年法布里病患者的估算GFR和测量GFR。
比较了8例男性和13例女性法布里病患者的碘海醇GFR（mGFR）与估算GFR（eGFR）（MDRD、Cockcroft-Gault和Counahan-Barratt方程），这些患者蛋白尿极少，男女平均mGFR均为94 ml/min/1.73 m²。
男性法布里病患者中，eGFR-MDRD显著高估24 ml/min/1.73 m²。在女性法布里病患者中，MDRD方程的表现与mGFR相似。Cockcroft-Gault方程显著高估了GFR，而Counahan-Barratt方程得出的结果与男性和女性法布里病患者的mGFR一致。
1-2期慢性肾脏病且蛋白尿极少的法布里病患者中，eGFR-MDRD的高估可能会妨碍对早期进行性肾衰竭的识别，其后果可能是ERT开始延迟。准确的GFR标志物应成为法布里病患者GFR常规评估的一部分。
