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Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy.

Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ - Nephrol. Dial. Transplant. (2009)

Bottom Line: Prevalence and severity of proteinuria, baseline eGFR <60 ml/min/1.73 m(2) and hypertension were associated with more rapid loss of eGFR.The mean age at death for 20 male patients was 49.9 years.Baseline proteinuria, reduced baseline eGFR, hypertension and male gender were associated with more rapid progression of Fabry nephropathy.

View Article: PubMed Central - PubMed

Affiliation: Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke National Institutes of Health, Bethesda, MD, USA.

ABSTRACT

Background: In Fabry disease, progressive glycolipid accumulation leads to organ damage and early demise, but the incidence of renal, cardiac and cerebrovascular events has not been well characterized.

Methods: We conducted a retrospective chart review of 279 affected males and 168 females from 27 sites (USA, Canada, Europe). The pre-defined study endpoints included progression of renal, cardiac and cerebrovascular involvement and/or death before the initiation of enzyme replacement therapy.

Results: The mean rate of estimated glomerular filtration rate (eGFR) decline for patients was -2.93 for males, and -1.02 ml/min/1.73 m(2)/year for females. Prevalence and severity of proteinuria, baseline eGFR <60 ml/min/1.73 m(2) and hypertension were associated with more rapid loss of eGFR. Advanced Fabry nephropathy was more prevalent and occurred earlier among males than females. Cardiac events (mainly arrhythmias), strokes and transient ischaemic attacks occurred in 49, 11, 6% of males, and in 35, 8, 4% of females, respectively. The mean age at death for 20 male patients was 49.9 years.

Conclusions: Baseline proteinuria, reduced baseline eGFR, hypertension and male gender were associated with more rapid progression of Fabry nephropathy. The eGFR progression rate may increase with advancing nephropathy, and may differ between subgroups of patients with Fabry disease.

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Kaplan–Meier-estimated survival rates for male Fabry patients (n = 279).
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Figure 4: Kaplan–Meier-estimated survival rates for male Fabry patients (n = 279).

Mentions: The mean age at death of 20 males was 49.9 years (Table 1). Three females died of unknown causes at the age of 36, 51 and 71 years, respectively. Kaplan–Meier analysis (Figure 4) showed that male Fabry patients had a 10% risk of death by 50 years of age, and the likelihood of death increased 5-fold to 50% by the age of 60 years.


Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy.

Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ - Nephrol. Dial. Transplant. (2009)

Kaplan–Meier-estimated survival rates for male Fabry patients (n = 279).
© Copyright Policy - creative-commons
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2698092&req=5

Figure 4: Kaplan–Meier-estimated survival rates for male Fabry patients (n = 279).
Mentions: The mean age at death of 20 males was 49.9 years (Table 1). Three females died of unknown causes at the age of 36, 51 and 71 years, respectively. Kaplan–Meier analysis (Figure 4) showed that male Fabry patients had a 10% risk of death by 50 years of age, and the likelihood of death increased 5-fold to 50% by the age of 60 years.

Bottom Line: Prevalence and severity of proteinuria, baseline eGFR <60 ml/min/1.73 m(2) and hypertension were associated with more rapid loss of eGFR.The mean age at death for 20 male patients was 49.9 years.Baseline proteinuria, reduced baseline eGFR, hypertension and male gender were associated with more rapid progression of Fabry nephropathy.

View Article: PubMed Central - PubMed

Affiliation: Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke National Institutes of Health, Bethesda, MD, USA.

ABSTRACT

Background: In Fabry disease, progressive glycolipid accumulation leads to organ damage and early demise, but the incidence of renal, cardiac and cerebrovascular events has not been well characterized.

Methods: We conducted a retrospective chart review of 279 affected males and 168 females from 27 sites (USA, Canada, Europe). The pre-defined study endpoints included progression of renal, cardiac and cerebrovascular involvement and/or death before the initiation of enzyme replacement therapy.

Results: The mean rate of estimated glomerular filtration rate (eGFR) decline for patients was -2.93 for males, and -1.02 ml/min/1.73 m(2)/year for females. Prevalence and severity of proteinuria, baseline eGFR <60 ml/min/1.73 m(2) and hypertension were associated with more rapid loss of eGFR. Advanced Fabry nephropathy was more prevalent and occurred earlier among males than females. Cardiac events (mainly arrhythmias), strokes and transient ischaemic attacks occurred in 49, 11, 6% of males, and in 35, 8, 4% of females, respectively. The mean age at death for 20 male patients was 49.9 years.

Conclusions: Baseline proteinuria, reduced baseline eGFR, hypertension and male gender were associated with more rapid progression of Fabry nephropathy. The eGFR progression rate may increase with advancing nephropathy, and may differ between subgroups of patients with Fabry disease.

Show MeSH
Related in: MedlinePlus