Fabry disease: clinical and genotypic aspects of three cases in first\ndegree relatives
Case 3: a 39-year-old female, mother of patients 1 and 2, presented with\nmild acroparestesia and cornea verticillata, without skin lesions. Audiometry revealed\ndiminished hearing in the right ear and slight loss in the left, discrete proteinuria\n(0.09) and microalbuminuria (20.93 VR < 20 ). Normal blood count, renal function,\nESR, ECG and cranial MRI. Dosage of α-Gal A activity in the plasma was within normal\nrange (3.02 umol/h).\nGenotyping of the 3 patients revealed a similar mutation: Exon 7 Arg 342 Gln. In the\ntwo-year followup, patient 1 presented worsening of lower limb pains and microangiopathy\nwas detected in cranial MRI. Patient 2 started presenting proteinuria and increase of\nangiokeratomas in size, number and distribution. The mother remained stable. The three\npatients still have not started enzyme replacement due to family decision of postponing\nthe beginning of treatment.