Renal pathologic lesions and functional alterations in a man with Fabry's disease

• Published in: The American journal of medicine Vol. 55; no. 3; pp. 415 - 425
• Main Authors: Pabico, Rufino C., Atanacio, Benjamin C., McKenna, Barbara A., Pamukcoglu, Thomas, Yodaiken, Ralph
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.09.1973
• Subjects: Ammonia - urine; Epithelial Cells; Glomerular Filtration Rate; Glycolipids - metabolism; Humans; Hydrogen-Ion Concentration; Kidney - blood supply; Kidney - physiopathology; Kidney Function Tests; Kidney Glomerulus - physiopathology; Kidney Tubules, Proximal - physiopathology; Lipid Metabolism, Inborn Errors - physiopathology; Male; Microscopy, Electron; Middle Aged; Regional Blood Flow; Urine
• ISSN: 0002-9343; 1555-7162
• DOI: 10.1016/0002-9343(73)90140-X

An extensive renal functional study was performed on a 50 year old patient with Fabry's disease without the typical skin lesions. On light microscopy, the renal pathology consisted of numerous vacuolated epithelial cells in every glomerulus giving the glomeruli a distinctive “foamy” appearance. The vacuolization was due to the presence of lipid material within these cells; the same material was found within tubular epithelial cells and in the interstitium. On electron microscopy, dense, irregularly shaped, osmiophilic, laminated bodies with myelin-like configuration were seen within the glomerular epithelial cells and in the urinary spaces. The dihexoside and trihexoside contents of the renal tissue were greater than 10 times the normal. Glomerular filtration rate (GFR) was 77, and effective renal plasma flow (ERPF) was 337 ml/min/1.73 m 2. Proximal tubular reabsorptive and secretory functions were diminished as evidenced by the low tubular maximum reabsorption for glucose (Tm G) and tubular maximum secretion for para-aminohippurate (Tm PAH) values, respectively. The diminution in proximal tubular functions was out of proportion to the decrease in GFR. Although the urinary pH fell during the oral administration of ammonium chloride (NH 4Cl), the urinary net acid excretion, particularly the urinary ammonium (NH 4) excretion, was considerably small. Unlike most cases reported in which urinary concentration defect was the common functional abnormality, this patient's concentration and dilution mechanisms were normal. There was no deterioration in GFR, ERPF and concentrating ability during more than 2 years of serial evaluation.