Early Renal Failure in Fabry's Disease

Sheth, Kumudchandra J.; Roth, Donald A.; Adams, Mark B.

doi:10.1016/s0272-6386(83)80047-x

Cited by 43 publications

(32 citation statements)

References 9 publications

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“…28 In a recent pediatric review, Ramaswami et al argue that microalbuminuria, contrary to what is seen in adult patients, seems to be a helpful marker in the evaluation of renal disease in young children. 29 They stress the need of systematic kidney biopsy studies to evaluate potential morphologic biomarkers and treatment effects.…”

Section: Discussionmentioning

confidence: 99%

Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease

Tøndel

Bostad

Larsen

et al. 2013

Journal of the American Society of Nephrology

212

205

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The effect of early-onset enzyme replacement therapy on renal morphologic features in Fabry disease is largely unknown. Here, we evaluated the effect of 5 years of treatment with agalsidase alfa or agalsidase beta in 12 consecutive patients age 7-33 years (median age, 16.5 years). We performed renal biopsies at baseline and after 5 years of enzyme replacement therapy; 7 patients had additional biopsies after 1 and 3 years. After a median of 65 months, biopsy findings from all patients showed total clearance of glomerular endothelial and mesangial cell inclusions, and findings from 2 patients showed complete clearance of inclusions from epithelial cells of the distal tubule. The 4 patients who received the highest dose of agalsidase exhibited substantial clearance of podocyte inclusions, and the youngest patient had nearly complete clearance of these inclusions. Linear regression analysis showed a highly significant correlation between podocyte globotriaocylceramide clearance and cumulative agalsidase dose (r50.804; P50.002). Microalbuminuria normalized in five patients. In summary, long-term enzyme replacement therapy in young patients can result in complete globotriaocylceramide clearance of mesangial and glomerular endothelial cells across all dosage regimens, and clearance of podocyte inclusions is dosedependent.

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Section: Discussionmentioning

confidence: 99%

Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease

Tøndel

Bostad

Larsen

et al. 2013

Journal of the American Society of Nephrology

212

205

View full text Add to dashboard Cite

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“…Uremia and hypertension develop in the 4th and 5th decades [4]. Our patient also presented with only mild proteinuria.…”

Section: [12]mentioning

confidence: 52%

Fabry's Disease

Sabhikhi

Verma²,

Reddy

et al. 1997

Medical Journal Armed Forces India

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“…Kidney biopsy will reveal storage material in parietal and visceral renal epithelial cells and to a lesser extent in interstitial cells, capillary endothelial cells and distal tubular cells [12, 54]. Progression of disease is associated with mesangial expansion and ultimately glomerulosclerosis [55, 56, 57].…”

Section: Organ Manifestations/clinical Picturementioning

confidence: 99%

“…Deposition of Gb 3 occurs at multiple sites throughout the nephrons and renal vasculature, resulting in progressive glomerular injury [12]. Patients often also develop hypertrophic cardiomyopathy [13], coronary artery disease, vascular abnormalities [14, 15], dysrhythmias and conduction disturbances [16].…”

Section: Introductionmentioning

confidence: 99%

Fabry Disease – A Metabolic Disorder with a Challenge for Endocrinologists?

Feldt‐Rasmussen

Ak²,

Mersebach³

et al. 2002

Horm Res Paediatr

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Objective: To revisit Fabry disease, a rare X-linked metabolic glycosphingolipid storage disease caused by a deficiency of the lysosomal enzyme α-galactosidase A (α-gal A). Method: Summary of the existing knowledge of Fabry disease including the clinical feature of Fabry disease and the recent breakthrough in the treatment of Fabry patients with the development of recombinant human α-gal A. Conclusion: The diffuse organ manifestations of Fabry disease resemble medical endocrinological diseases, and medical endocrinology might be an appropriate speciality to manage the treatment in collaboration with other specialists and clinical geneticists.

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Early Renal Failure in Fabry's Disease

Cited by 43 publications

References 9 publications

Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease

Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease

Fabry's Disease

Fabry Disease – A Metabolic Disorder with a Challenge for Endocrinologists?

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