[Case of Fabry's disease].
A patient is described, admitted to the clinic on the occasion of proteinuria, edemas and arterial hypertension. The clinical and paraclinical data formed the picture of a renal involvement of mainly glomerular type with proteinuria to 5 gr%0, nonselective type, edemas, hypertension and data of chronic renal insufficiency I degree (serum creatinine to 3.8%, blood urea to 112 mg%). What impresses are the extrarenal manifestations as paresthesia of the lower limbs, with a sense of numbness to acute burning pain, a rich psychonervous symptomatics. The skin efflorescence, followed up and observed at the clinic of dermatology and the puncture biopsy material from the kidney revealed specific signs of Fabry syndrome.
D000328:Adult; D003937:Diagnosis, Differential; D004487:Edema / Q000175:diagnosis; D000795:Fabry Disease / Q000175:diagnosis*; D006801:Humans; D006973:Hypertension / Q000175:diagnosis; D008297:Male; D011507:Proteinuria / Q000175:diagnosis
Bolen sus sindrom na Fabry.