Clinical and pathological features of 10 cases of Fabry's disease with renal damage

Objective To investigate the clinical manifestations and pathological features of the hereditary disease(Fabry's disease)with renal damage.Methods The clinical manifestations,and laboratory tests and renal pathology data of 10 cases of Fabry's disease,mainly relating to renal damage,were collected from Department of Nephrology,Affiliated Xijing Hospital of Air Force Military Medical University from September 1997 to January 2020,and the clinical manifestations,pathological features,treatment and prognosis of Fabry's disease were discussed.Results All the 10 patients were male,and aged 13~66 years with an average age of 28.6.Renal damage was characterized by proteinuria(9 cases,90%),microscopic hematuria(7 cases,70%),and decreased glomerular filtration rate(7 cases,70%),with 3 cases(30%)progressing to end-stage renal disease(ESRD).Outside the kidney,ventricular septal hypertrophy(3 cases,30%),skin rash(3 cases,30%),limb paresthesia(2 cases,20%),keratopathy(1 case,10%),and hearing loss(3 cases,30%)were found.The pathological manifestations of the kidney were diffused vacuolar degeneration and foam-like degeneration of podocytes observed under light microscope,partially accompanied by foam-like degeneration of renal tubular epithelial cells.Segmentalized or nodular sclerosis was observed in the glomeruli,which was easily misdiagnosed as focal segmental glomerulosclerosis.Under electron microscope,the cytoplasm of tissue cells showed a large number of layered circular myelin sheath-like bodies and zebra bodies.Conclusions Fabry's disease is common in young men,and renal damage is lack of specificity.Most of the manifestations are mild to moderate proteinuria and different degrees of renal insufficiency,and can progress to ESRD.Pathological examination of the kidney is of great significance.Osmiophilic myelin sheath-like inclusion body is its characteristic structure.Among extrarenal manifestations cardiac lesions are the most common.