Fabry disease : the many faces of a single disorder
Torra Balcells, Roser (Fundació Puigvert)
Ortiz, Alberto (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz)

Data:	2012
Resum:	In 1898, two dermatologists, William Anderson in England and Johannes Fabry in Germany, separately described a disease characterized by skin lesions, known as angiokera-tomas. This issue contains two reports of Fabry disease (FD) patients presenting with proteinuric chronic kidney disease (CKD) but lacking angiokeratomas [1,2]. These cases illustrate the phenotypic heterogeneity of the disease in females [1] and FD variants [2],theroleof genetic diagnosis [1] and renal biopsy [2] and recent advances in pathophysiology [1]. FD is caused by deficient activity of alpha-galactosidase A (α-GalA) due to mutations in the X-chromosome GLA gene, leading to accumulation of neutral glycolipids and eventual tissue injury and organ dysfunction [3]. In classical FD males, α-GalA activity is absent or nearly absent and there is an early onset of acroparesthesias, angiokeratoma and hypohydrosis followed by life-threatening cardiac, central nervous system and kidney disease leading to end-stage renal disease (ESRD) at a mean age of 40 years.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Publicat a:	Clinical Kidney Journal, Vol. 5 (october 2012) , p. 379-382, ISSN 2048-8513

DOI: 10.1093/ckj/sfs124
PMID: 26019811

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