Chronic renal failure, dialysis, and renal transplantation in Anderson-Fabry disease

Sessa, A.; Meroni, M.; Battini, G.; Righetti, Marco; Mignani, Renzo

doi:10.1016/j.semnephrol.2004.06.024

Cited by 16 publications

(15 citation statements)

References 20 publications

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“…So far, over 600 α-gal A gene mutations causing FD have been described (Human Gene Mutation Database, http:// www.hgmd.cf.ac.uk). Different gene mutations might explain different clinical pictures but, at present time, genotype-phenotype correlations are premature because mutations are private [2]. The α-gal A protein contains 429 amino acids that are important for enzymatic activity.…”

Section: Discussionmentioning

confidence: 99%

“…The second clinical phase is characterized by renal involvement (microalbuminuria and subsequent proteinuria, lipiduria with Malta cross crystals in the urine sediment, and impairment in the urine concentration and diluting capacity). In the third clinical phase severe renal damage is present with late involvement of cardiovascular and cerebrovascular systems [2]. In this family, there were 3 heterozygous females carriers.…”

Section: Discussionmentioning

confidence: 99%

“…The mutations of the α-galactosidase A (α-gal A) gene induces the deficient activity of the lysosomal hydrolase α-gal A enzyme, which leads to impaired degradation and subsequent accumulation of globotriaosylceramide in multiple tissues and organs [1]. The progressive accumulation of globotriaosylceramide and globotriaosylceramide takes place within the endothelial and smooth muscle cells of the vascular system, myocardial cells, nervous system, and in all kind of cells of the kidney, eventually leading to organ dysfunction [2]. …”

Section: Introductionmentioning

confidence: 99%

“…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%

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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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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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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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“…Among palliative approaches, the introduction of renal replacement therapy (ie, dialysis and renal transplant) for ESRD during the period preceding enzyme therapy resulted in an increased survival by a decade or more (Sessa et al 2004). A few patients have had implantable pacemakers and defibrillators for bradycardia and arrhythmias, respectively; but the number of lives saved through these measures has not been as closely examined (Shah et al 2005).…”

Section: Palliative Measures and Adjunctive Therapiesmentioning

confidence: 99%

Agalsidase Alfa in the Treatment of Anderson-Fabry Disease

Pastores

2010

Fabry Disease

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Anderson-Fabry disease (AFD) is an X-linked storage disorder caused by a deficiency of the lysosomal hydrolase a-galactosidase A (AGAL) and the resultant accumulation of its glycosphingolipid substrate (Gb3) in several tissue types. Major morbidity and reduced life expectancy among affected individuals are a consequence of renal, cardiac and cerebrovascular involvement. Symptomatic males and females with AFD have been described, although the onset of clinical manifestations may be delayed and more variable among the latter patient group, partly attributed to lyonization. Agalsidase alfa (Replagal™) is a recombinant formulation of human AGAL which has been demonstrated to modify the course of AFD in treated patients. Factors that may influence clinical outcomes include disease stage at the point of treatment initiation and antibody formation. There is incomplete understanding of AFD pathophysiology. Early diagnosis and timely intervention may be essential. The use of adjunctive therapies, directed at risk reduction (eg, aspirin for stroke prophylaxis), require careful scrutiny, but such agents are likely to be vital components of a comprehensive approach to patient care. Long-term studies may clarify the optimal dose and frequency of enzyme administration. Meanwhile, budding strategies such as chaperone-mediated enzyme enhancement may offer the potential for an alternative or multimodality approach to the management of AFD.

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