Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria

Background: Information concerning renal pathological characteristics in Fabry disease in childhood is limited. Our objective is to define renal morphological abnormalities in children and adolescents with Fabry disease and minimal proteinuria. Study Design: Case series. Setting & Participants: 9 symptomatic patients (7 males, 2 females; age range, 7 to 18 years); 2 patients had received enzyme replacement therapy for 2 years. Outcomes & Measurements: Renal morphological changes assessed by using light and electron microscopy. Results: All patients had acroparesthesia and typical eye changes, 7 showed hypohidrosis, 7 had gastrointestinal problems, and 2 had typical angiokeratomas. Mean albumin-creatinine ratio was 38 mg/mg (range, 5.3 to 104.3 mg/mg). Measured glomerular filtration rate was normal in all patients. Light microscopy showed changes in glomerular, tubulointerstitial, or vascular compartments alone or in combination in 7 patients. Electron microscopy showed lesions in all patients. Limitations: Small sample size. Conclusions: Glomerular and vascular changes are present before progression to overt proteinuria and decreased glomerular filtration rate. The combination of acroparesthesia and mild albuminuria, glomerular endothelial cell deposits, and arteriopathy may constitute a clinical and morphological combination heralding a potentially progressive renal disease.