Fabry disease: Kidney involvement and enzyme replacement therapy

Abstract

CASE PRESENTATIONSPatient 1. A 50-year-old man with end-stage renal disease (ESRD) possibly secondary to Fabry disease commenced chronic ambulatory peritoneal dialysis (CAPD) 19 months ago. In childhood he presented with acroparesthesias and pain crises with fever, which were considered to be of psychosomatic origin. Remission of the symptoms occurred when he was 15 years old, but he continued to have atypical abdominal pain and a low threshold for pain. In childhood he also developed angiokeratomas. From the age of 29, he suffered from asthma and since then has been treated with anti-asthmatic inhalers.Fifteen years ago he underwent a slit-lamp examination, in which the typical ophthalmic findings of Fabry disease (cornea verticilata, lenticular opacities) were observed and the diagnosis of the disease was established. Eleven years ago, hypertrophic cardiomyopathy with arrhythmias was treated with anti-arrhythmic agents, including amiodarone. Renal insufficiency was detected The Nephrology Forum is funded in part by grants from Amgen, Incorporated; Merck & Co., Incorporated; Dialysis Clinic, Incorporated; and Bristol-Myers Squibb Company.

Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes

“…Progressive accumulation of globotriaosylceramide (GL-3) eventually leads to renal failure, cardiac failure, and/or stroke [1]. Two recombinant human agalsidase preparations, which are available for the treatment of FD, led to a reduction in GL-3 deposition in the kidneys and improved or stabilized kidney function in some patients [2][3][4][5][6][7][8][9][10][11]. The average age of the individual at the onset of FD-specific symptoms, such as the Fabry crisis of neuropathic pain and hypohidrosis, is reported to be approximately 10 years [12,13], and the average age at diagnosis of patients with FD is 24.6 years.…”

The Nephrology Quiz and Questionnaire

“…In the kidney, these inclusions in endothelial cells, podocytes, and interstitial cells are almost pathogenetic for Fabry's disease (22). However, there was no family history of renal disease, no symptoms of Fabry's disease, a normal serum alpha galactosidase level, and no identifiable mutation in the gene.…”

Enzymothérapie substitutive chez neuf patients atteints de la maladie de Fabry

“…Il semble qu'il y ait un point de non-retour, notamment en ce qui concerne les atteintes rénales et cardiaques. C'est avant la constitution de lésions histologiques plus ou moins irréversibles qu'il semble logique de restaurer l'activité enzymatique [9]. Rappelons que, sur le plan rénal, on peut attendre une élimination du GL-3 des cellules endothéliales à turn-over rapide, mais non des cellules podocytaires qui ne se renouvellent pas.…”