The Renal History of Fabry Disease

In 1898 William Anderson and Johannes Fabry described the red-purple maculopapular skin lesions characteristic for Fabry disease and also mentioned the presence of proteinuria. Four decades later Maximiliaan Ruiter concluded that angiokeratoma corporis diffusum is the cutaneous manifestation of an inherited systemic internal disease. In 1947 autopsy findings of two cases who died from uraemia revealed sclerosis of glomeruli. At this time the presence of a thesaurismosis was also considered. The first renal needle biopsy in 1958 showed vacuolation and distension of the cells of the glomerular tufts and distal tubules suggestive of a storage disorder. The ability to concentrate the urine was also impaired in these patients. Sweely und Klionsky in 1963 demonstrated that the major storage component is a trihexoside. As of 1967 Roscoe Brady finally described the deficiency of the enzyme ceramidetrihexosidase/-galactosidase A characteristic in patients with Fabry disease.