Natural History of Fabry Renal Disease

Branton, Mary H.; Schiffmann, Raphael; Sabnis, Sharda G.; Murray, Gary J.; Quirk, Jane M.; Altarescu, Gheona; Goldfarb, Lev G.; Brady, Roscoe O.; Balow, James E.; Austin, Howard A.; Kopp, Jeffrey B.

doi:10.1097/00005792-200203000-00003

Cited by 408 publications

(138 citation statements)

References 45 publications

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“…The present study differs from the physiological state by the introduction of substrate entirely from an exogenous source, whereas in vivo the accumulated substrate results from cell turnover or from a combination of endogenous biosynthesis and degradation of exogenous lipids entering the cell through lipoproteins. Further study of the interplay between biosynthesis, transport, and degradation of this glycolipid and the parent globosides and glycoconjugates that may compete as substrates for the same limited enzyme activity may provide insights into the observation that some patients with even small amounts of residual activity have a milder clinical course ( 23 ).…”

Section: Discussionmentioning

confidence: 99%

Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells

Kaneski

Schiffmann²,

Brady

et al. 2010

Journal of Lipid Research

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Section: Discussionmentioning

confidence: 99%

Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells

Kaneski

Schiffmann²,

Brady

et al. 2010

Journal of Lipid Research

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“…In 2002, Branton et al [2] reported a reduction of 12.2 ml/min/year in a small group of males with Fabry disease who were not receiving treatment. Since the advent of ERT, the rate of deterioration of GFR per year has been studied either explicitly or data have been provided from which calculations could be made (table 5).…”

Section: Discussionmentioning

confidence: 99%

“…Renal manifestations (proteinuria and progressive renal impairment) occur relatively early in the course of Fabry disease and, in many patients, progress to renal failure [2]. …”

Section: Introductionmentioning

confidence: 99%

Agalsidase Alfa Slows the Decline in Renal Function in Patients with Fabry Disease

Feriozzi

Schwarting²,

Sunder‐Plassmann

et al. 2008

Am J Nephrol

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The aim of this study was to determine the effects of enzyme replacement therapy with agalsidase α on renal function in patients with Fabry nephropathy. Serum creatinine data were collected from 165 adult patients during 3 years of treatment. Serum creatinine increased in all men whereas it was stable in women, except in stage II renal disease (Kidney Disease Outcomes Quality Initiative). The estimated glomerular filtration rate (eGFR) declined in males with stage I and II (from 115.0 ± 22.2 to 98.3 ± 27.3 and from 76.5 ± 8.1 to 66.3 ±21.6 ml/min/1.73 m², respectively; both p < 0.01), whereas eGFR was stable in stage III. In females, eGFR was stable in stages I and III, and decreased in stage II (from 72.5 ± 8.3 to 67.3 ± 13.6 ml/min/1.73 m²; p = 0.01). The 24-hour proteinuria was <1 g in all patients, and most patients (96%) were treated with angiotensin receptor blockers (ARBs) or angiotensin-converting enzyme (ACE) inhibitors. Agalsidase α in combination with ACE inhibitors/ARB may be effective in slowing the deterioration in renal function in Fabry nephropathy.

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“…The renal function is disturbed in all hemizygous male and in some heterozygous female patients, and renal dysfunction with progression to end-stage renal failure is a common manifestation in males in their third to fifth decade of life. Usually, death occurs from cerebral and/or cardiovascular complications in patients undergoing chronic dialytic treatment [2,3,4,5,6,7]. In FD patients, the renal injury is universal: accumulation of glycosphingolipids occurs in endothelial cells of vessels and in the epithelial cells of the Henle's loop and distal tubule, inducing an early impairment in renal concentrating ability; the involvement of proximal tubule causes Fanconi syndrome; all kinds of glomerular cells are involved, especially podocytes, and glomerular proteinuria may occur at a young age [3].…”

Section: Introductionmentioning

confidence: 99%

“…In FD patients, the renal injury is universal: accumulation of glycosphingolipids occurs in endothelial cells of vessels and in the epithelial cells of the Henle's loop and distal tubule, inducing an early impairment in renal concentrating ability; the involvement of proximal tubule causes Fanconi syndrome; all kinds of glomerular cells are involved, especially podocytes, and glomerular proteinuria may occur at a young age [3]. According to the natural history of renal disease in Fabry patients described by Branton et al [4], the mean rate at which glomerular filtration rate (GFR) decreases is 12.2±8.1 ml/min/1.73 m 2 /year (range 3.3 to 33.7 ml/min/1.73 m 2 / year).…”

Section: Introductionmentioning

confidence: 99%

A Missense Mutation of the α-Galactosidase A Gene in a Chinese Family of Fabry Disease with Renal Failure

Wang

Zhu

et al. 2013

Kidney Blood Press Res

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Background: Fabry disease (FD) is a rare disease due to an X-linked recessive inborn error of glycosphingolipid metabolism resulting from the mutations of the α-galactosidase A (α-gal A) gene. FD is rare in Chinese and the data on clinic and genetic features of FD is still limited. Methods: In this study, the α-gal A gene of a Chinese family diagnosed with FD was analyzed for mutations and the genetic features of FD in this family were presented. Results: The α-gal A activity of the proband in this family was 0.03 nmol/ml/h in the whole blood. By PCR amplification and sequencing of the α-gal A gene exons, a single C-to-T transition was identified in codon 112 of exon 2. This C-to-T transition, mapping to position 334 in the cDNA of the α-gal A gene, was a missense mutation predicting a substitution of arginine to cysteine (p.R112C), which disrupts the normal activity of α-gal A enzyme. No further mutations were found in other exons of the α-gal A gene. In contrast to previous reports, in this family, all of the five male patients developed end-stage renal failure due to this missense mutation. Conclusions: These findings suggest that the missense mutation, p.R112C, in α-gal A gene ablates its activity and results in the development of FD with the renal damage.

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Natural History of Fabry Renal Disease

Cited by 408 publications

References 45 publications

Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells

Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells

Agalsidase Alfa Slows the Decline in Renal Function in Patients with Fabry Disease

A Missense Mutation of the α-Galactosidase A Gene in a Chinese Family of Fabry Disease with Renal Failure

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