| Objective:Fabry disease(FD)is an inherited X-linked lysosomal storage disorder,caused by the mutation in the GLA gene that encodes the enzyme α-galactosidase A,which leads to potentially life-threatening accumulation of globotriaosylceramides(Gb3)in lysosome-carrying tissues.This study retrospectively analyzed the clinic-pathologic features and risk factors that affected renal prognosis of FD in Chinese patients.Methodology:Data covering 2004 to 2016,obtained from Fabry clinical database at the National Clinical Research Center of Kidney Diseases,Jinling Hospital,were reviewed retrospectively.All patients had confirmed renal pathology diagnosis.Patients were classified into renal function stabilization group and renal function deterioration group.The clinicopathological features and outcome were analyzed and compared between groups.Results:Thirty-one patients were analyzed,20(64.5%)were male and 11(35.5%)were female.The age at initial onset of symptoms and diagnosis were 27.7±14.2(5～53 years)and 35.9±9.2 years(21～54 years).The average time of delay diagnosis is 8.0±10.5 years.Reduced α-gal A activity in leukocytes was observed in 8 patients(median,0.38 nmol/mL/h;range 0.0-22.13 nmol/mL/h).After median 62 months(8～156 months)follow-up,23 of them had stable renal function while 8 underwent renal function deterioration.Frequent presenting symptoms included acroparesthesia(58.1%),edema(51.6%),hypo-or anhidrosis(38.7%),and angiokeratoma(35.5%).20 patients had ECG abnormalities including left ventricular high voltage(41.9%)and ST-and T-alterations(38.7%).Left ventricular hypertrophy was present in 62.5%patients with renal function deterioration and 17.4%patients with stable renal function(p=0.03).The renal cumulative survival rate of all patients was 96.6%,80.6%,and 64.5%in 3,5,and 10 years,respectively.24h urinary protein,serum-creatinine,cystatin C and urinary N-acetyl-beta-glucosaminidase increased significantly in the renal function deterioration group compared with the renal function stable group.The patients in the renal function deterioration group had higher segmental sclerosis and vacuole severity score than those in the stable renal function group.Mainz Severity Score Index(MSSI)and segmental sclerosis are independent predictive factors for a more rapid progression of Fabry nephropathy.The receiver operating characteristic analysis demonstrated that the area under the curve for the prediction of renal function progression on the basis of MSSI and segmental sclerosis levels in patients with FD was 0.845 and 0.780,respectively.MSSI score ≥18 or segmental sclerosis ≥3.9%in patients with FD positively correlated with poor renal prognosis.The K-M curve revealed more directly that the MSSI score ≥18 or segmental sclerosis ≥3.9%positively correlated with poor long-term renal prognosis.Conclusion:FD’ s clinical manifestations are heterogeneous and nonspecific.The 10-year cumulative renal survival rate was 64.5%in Chinese patients.MSSI score and segmental sclerosis levels predict the renal prognosis of patients with FD sensitively. |
