Patients with Fabry disease on dialysis in the United States

Thadhani, Ravi; Wolf, Myles; West, Michael; Tonelli, Marcello; Ruthazer, Robin; Pastores, Gregory M.; Obrador, Gregorio T.

doi:10.1046/j.1523-1755.2002.00097.x

Cited by 180 publications

(121 citation statements)

References 21 publications

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“…Patients with FD have previously been characterized by weight loss 9 and low BMI. 10 In accordance with this, 15% of our population had a BMI below 20 kg/m 2 . Gastrointestinal manifestations of FD including postprandial indigestion, nausea, cramps, reflux, and diarrhea are likely to contribute to the lower BMI.…”

Section: Discussionsupporting

confidence: 83%

“…Skeletal manifestations of Gaucher disease, another glycosphingolipid storage disease, can severely impair the mobility of patients with considerable impact on the quality of life. Patients with FD are characterized by weight loss 9 and low body mass index (BMI), 10 the cause being unknown. In addition, progression of renal impairment may further reduce bone mineralization and contribute to the development of osteoporosis in this population.…”

mentioning

confidence: 99%

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Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral density

Mersebach

Johansson

Rasmussen

et al. 2007

Genetics in Medicine

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Purpose: We investigated the bone mineral status in patients with untreated Fabry disease (FD). Methods:Descriptive, cross-sectional study in 53 patients with FD investigating bone mineral density (BMD)/content (dual energy x-ray absorptiometry scan), bone metabolism (parathyroid hormone, osteocalcin, and insulin-like growth factor I), and renal function (ethylene diamine tetraacetic acid clearance). Results: Mean BMD z score at the lumbar spine and femoral neck were Ϫ0.05 Ϯ 1.46 SD and Ϫ0.37 Ϯ 1.02 SD, respectively. Approximately 50% had osteopenia in the hip or lumbar spine and additionally four had osteoporosis. Multivariate analysis including body weight, impaired renal function, and genotype overall explained 48% of the variance in lumbar spine BMD (P Ͻ 0.001), whereas body weight, impaired renal function, and menopausal status in the female population accounted for more than 50% of the variation in BMD of both the lumbar spine and femoral neck (both P Ͻ 0.001). Twenty percent of patients had hyperparathyroidism. Although the level of parathyroid hormone was significantly associated with impaired renal function, osteocalcin levels were significantly higher in patients with lumbar spine osteopenia or osteoporosis than in those with normal BMD. Conclusions: Osteopenia was present in approximately 50% of patients with untreated FD. Whether BMD and bone metabolism will improve after enzyme replacement therapy remains to be established. Genet Med 2007:9(12):812-818.

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Section: Discussionsupporting

confidence: 83%

mentioning

confidence: 99%

Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral density

Mersebach

Johansson

Rasmussen

et al. 2007

Genetics in Medicine

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“…These patients shared common baseline characteristics that might have predisposed them to renal progression. Most were older than 40 yr, which is associated with increased risk for renal disease progression in patients with Fabry disease (16,17). The mean pretreatment and final SBP/DBP values were not substantially different, suggesting that BP did not contribute to renal progression.…”

Section: Discussionmentioning

confidence: 99%

Sustained, Long-Term Renal Stabilization After 54 Months of Agalsidase β Therapy in Patients with Fabry Disease

Germain¹,

Waldek²,

Banikazemi³

et al. 2007

Journal of the American Society of Nephrology

414

381

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Fabry disease, an inherited deficiency of the lysosomal enzyme ␣-galactosidase A, causes progressive intralysosomal accumulation of globotriaosylceramide (GL-3) and premature death from renal, cardiac, and cerebrovascular manifestations. To determine the long-term safety and efficacy of recombinant human ␣-galactosidase A, an open-label, phase III extension study was conducted, involving 58 patients who had classic Fabry disease and completed a 20-wk, double-blind, randomized, placebo-controlled, phase III study of agalsidase ␤ and were transitioned to an extension trial to receive biweekly 1 mg/kg agalsidase ␤ for up to an additional 54 mo. GL-3 accumulation was evaluated in the capillary endothelia of the skin, kidney, and heart. Renal function was assessed. By month 54, all patients with optional kidney biopsies (n ‫؍‬ 8) maintained complete GL-3 clearance in renal capillary endothelial cells and multiple cell types. Continued, complete clearance of skin (31 of 36) and heart (six of eight) capillary endothelium was demonstrated. Mean plasma GL-3 levels remained decreased in the normal range. Median serum creatinine and estimated GFR remained stable (normal) in patients with renal data at month 54 (n ‫؍‬ 41). Six patients had renal disease progression; most (four of six) were older than 40 yr and had significant proteinuria at baseline and evidence of sclerotic glomeruli pretreatment. Adverse events were generally mild and unrelated to treatment. The most common treatment-related adverse events were infusion-associated reactions, which decreased over time. Long-term agalsidase ␤ therapy stabilizes renal function in patients without renal involvement at baseline, maintains reduction of plasma GL-3, and sustains GL-3 clearance in capillary endothelial cells and multiple renal cell types.

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“…Females reaching end-stage renal disease do so at the same mean age as males. However, there are ten-fold less females than males in both United States and European end-stage renal disease registries (Tsakiris et al, 1996, Thadhani et al, 2002. This suggests that in most females, Fabry nephropathy does not progress to reach end-stage renal disease, but in those in whom progression occurs, the time-course is similar to males.…”

Section: Renal Functionmentioning

confidence: 99%

Fabry Disease: A Metabolic Proteinuric Nephropathy

Nuñez¹,

Ortíz²,

Sanz³

et al. 2011

Advances in the Study of Genetic Disorders

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Patients with Fabry disease on dialysis in the United States

Abstract: : End-stage renal disease is associated with significant morbidity and mortality among patients with Fabry disease. Recent evidence that progression of Fabry disease may be attenuated by enzyme replacement therapy necessitates increased awareness of Fabry disease and its comorbidities.

Cited by 180 publications

References 21 publications

Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral density

Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral density

Sustained, Long-Term Renal Stabilization After 54 Months of Agalsidase β Therapy in Patients with Fabry Disease

Fabry Disease: A Metabolic Proteinuric Nephropathy

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