Abstract
No specific or efficient treatment exists for Alport syndrome, an X-linked hereditary disease caused by mutations in collagen type IV, a crucial component of the glomerular basement membrane. Kidney failure is usually a major complication of the disease, and patients require renal replacement therapy early in life. Microhematuria and subsequently proteinuria are hallmarks of kidney involvement, which are due to primary basement membrane alterations that mainly cause endothelial thrombosis and podocyte contraction and ulterior irreversible detachment. Commonly drug-based approaches include angiotensin-converting enzyme inhibitors and angiotensin receptor blockers, which are employed to reduce proteinuria and thus retard kidney disease progression and cardiovascular morbidity and mortality. However, as any hereditary disease, it is expressed as early as in the intrauterine life, and usually an index case is helpful to detect family-related cases. As no specific treatment exists, pathophysiologically based approaches are useful. The present case illustrates the reduction rate of urinary podocyte loss and proteinuria after amiloride administration and suggests the molecular pathways involved in Alport renal disease. Finally, podocyturia rather than proteinuria should be considered as an earlier biomarker of kidney involvement and disease progression in Alport disease.
Highlights
Alport syndrome is a chromosome X-linked hereditary disease with systemic involvement, mainly affecting the renal, pulmonary, visual, and auditory systems
No specific or efficient treatment exists for Alport syndrome, an X-linked hereditary disease caused by mutations in collagen type IV, a crucial component of the glomerular basement membrane
We suggest the potential roles certain integrins, the urokinase plasminogen activator, its receptor, and plasmin may play in the pathogenesis of Alport kidney disease
Summary
Alport syndrome is a chromosome X-linked hereditary disease with systemic involvement, mainly affecting the renal, pulmonary, visual, and auditory systems. Aims are directed to reducing the rate of progression of the organs involved, whenever possible. In this respect, chronic kidney disease is managed with the usual nephroprotective recommendations, as loss of weight, blood pressure control, salt restriction, and tobacco avoidance, amongst others. Podocyturia is irreversible and any attempt to decrease its amount, in early phases of a glomerulopathy, should be accompanied by reductions in proteinuria and delays in kidney function decline. We present a young male patient with a family history of kidney biopsyproven Alport disease. He had normal kidney function, microhematuria, and mild proteinuria. His podocyturia was higher than age-matched controls. We suggest the potential roles certain integrins, the urokinase plasminogen activator (uPA), its receptor (uPAR), and plasmin may play in the pathogenesis of Alport kidney disease
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