Alport Syndrome and Other Familial Glomerular Syndromes

Alport syndrome is an inherited disorder of basement membranes resulting from mutations in type IV collagen genes that frequently leads to progressive kidney disease, sensorineural deafness, and ocular abnormalities in affected individuals. In Fabry disease, deficiency of the enzyme α-galactosidase A (α-Gal A) results in the intracellular accumulation of neutral glycosphingolipids, leading to progressive chronic kidney disease, pain crises, sweating abnormalities, vascular cutaneous lesions, and cardiac and eye abnormalities. Nail-patella syndrome is an autosomal dominant condition characterized by hypoplasia or absence of the patellae, dystrophic nails, dysplasia of the elbows and iliac horns, and renal disease.