Anderson-Fabry disease: Ten-year outcome of enzyme replacement therapy in a renal transplant patient

Santos, S.; Campos, A.; Beirao, I.

http://hdl.handle.net/10400.16/2241

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Authors

Santos, S.

Campos, A.

Beirao, I.

Abstract(s)

Anderson‑Fabry disease (AFd) is a rare disorder characterised by the deficiency or absence of lysosomal enzymatic alpha‑galactosidase A activity (α‑Gal A) that leads to progressive and systemic accumulation of glycosphingolipids. The clinical manifestations are variable but kidney disease usually manifests before the fourth decade of life and chronic renal failure rapidly progresses to end‑stage renal disease (ESRD), requiring dialysis and kidney transplantation (KT). In patients with a definite diagnosis, enzyme replacement therapy (ERT) is recommended as soon as there are early clinical signs of kidney, heart or brain involvement. We present a case of a kidney transplant patient who was diagnosed with AFd nine years after KT, confirming the difficulty that may exist in na early diagnosis of this disease even among high‑risk groups. At this stage, in addition to renal damage, the patient already had advanced disease and established organ injury, including ocular, pulmonary, cerebrovascular and cardiac. He started agalsidase beta (Fabrazyme®) intravenously every two weeks at a dose of 1 mg/kg body weight. During ten years of treatment no major adverse events were reported and our experience indicates that ERT is a safe and effective treatment for extra‑renal Fabry manifestations in KT patients