Fabry disease (FD) is a lysosomal storage disease of inheritance linked to the X chromosome caused by the deficiency of the enzyme alpha-galactosidase A. It is a multisystemic disease with mainly renal, cardiac and nervous system involvement. Before the advent of dialysis and transplantation, men commonly died of chronic renal failure in the fifth decade of life. In a 2006 study of more than 100 patients with FD, all patients who survived older than 56 years developed ESRD and no patient survived beyond 60 years. Case report of a 60-year-old FD patient treated with agalsidase beta for 9 years. At first consultation, he presented hypertension and moderate proteinuria that reached a nephrotic range. Nitrogen products rose gradually, proteinuria values decreased to a moderate range and were maintained over time. The renal biopsy reported zebra bodies in the cytoplasm of podocytes. Molecular diagnosis of FD was made, detecting mutation c.520 T>G in exon 3 of the GLA gene. He started ERT with agalsidase beta immediately. After more than one year of ERT, the patient began hemodialysis (HD) at age 52. He continued infusions of intradialysis ERT without complications. The patient evolved with severe hyperparathyroidism that required parathyroidectomy. In 2017, brown tumor was diagnosed in the right wrist region. Surgery was performed to remove it. Despite good control of blood pressure and ERT, the patient evolved with left ventricular hypertrophy. In 2018 he presented mild precordial pain and then syncope. Acute non-ST elevation myocardial infarction was diagnosed. Medical treatment was performed without the need for angioplasty. Then he presented no more cardiovascular complications. He was evaluated for cross-kidney transplantation, because he had a different blood group donor. But this did not prosper. The patient received ERT uninterruptedly from the beginning, during 2009 he received agalsidase alfa for a short period due to the shortage of agalsidase beta. He currently remains in HD. Medication: Bisoprolol, valsartan, acetylsalicylic acid. Calcium, calcitriol, sevelamer and paricalcitol. Vitamin B, folic acid, erythropoietin and iron. Renal biopsy: Podocyte cytoplasm shows the typical structure of glycosphingolipid deposits, arranged in onion-like or zebra-like-figures. Echo doppler: Hypertrophy of the LV with septal predominance. Fey estimated by Simpson: 62%. Fibrosis of the ring and mitral valve. Fibrosis of the aortic sigmoids, with preserved opening. Pericardial effusion of mild grade. Initially, 3-year survival of FD patients on dialysis in the US was significantly lower compared to non-diabetic controls: 63% vs. 74% (95% CI, 67 to 80%; P _ 0.03). A study recently showed a mortality rate of patients with FD in HD of 7.38 (95% [CI] 7.33–7.42) per 100 people per year, lower than the mortality of patients with nephroangiosclerosis or diabetes. Mutation c.520 T>G was described as a renal variant. Although then the patient evolved with hypertrophy of LV. This is a complication of both hypertension and FD and being able to determine the cause with accuracy is difficult. In Argentina, cross-donor transplantation was legislated recently. FD is a multisystemic disease leading to life-threatening complications. ERT can have a positive impact on patient survival despite the progression of the disease and noble organs affeted.
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