The diagnosis of hereditary monogenic kidney diseases is frequently delayed, in part because of physicians' unfamiliarity with the relatively rare conditions or because of the late onset of symptoms in some patients. Molecular biology methods have clarified the underlying mutations in several types of CKD, and in the process have revealed previously unknown genes and pathogenetic pathways. Mutations affecting the integrity of the glomerular filtration barrier cause proteinuria or nephrotic syndrome; different types of Alport syndrome are caused by mutations in glomerular basement membrane type IV collagen; dysfunction of the primary cilium of tubule cells may lead to a variety of inherited progressive tubulointerstitial diseases; atypical hemolytic-uremic syndrome is frequently caused by inherited complement deficiencies; and progressive kidney injury develops in many inherited systemic or metabolic disorders. Some genetic diseases may not manifest until late childhood or adulthood. Accurate diagnosis is important for appropriate treatment, prognosis, genetic counseling, and possible renal transplantation.
Copyright © 2011 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.