Etiology Pathogenesis

Numerous studies indicate that autosomal recessive Alport's syndrome and benign familial hematuria/thin basement membrane disease may represent a spectrum of severe to mild or carrier forms, respectively, of varying molecular defects in the same genes. Linkage of hematuria to mutations in either a4 type IV or a3 type IV has been documented in about 40% of kindreds with apparent thin basement membrane nephropathy clinically (17,21-23). In remaining kindreds without apparent linkage, de novo mutations or incomplete penetrance of the hematuria phenotype is proposed to occur. In one study of patients with thin basement membranes, there was

Figure 7.2. The GBM is diffusely thin in this adult with hematuria. Family history and immunostaining were consistent with thin basement membrane lesion of benign familial hematuria (electron microscopy).

increased global sclerosis, with later development of hypertension and renal insufficiency in the patients, and also in some relatives (24). However, these patients were not defined molecularly, and were presumed to not have

Alport's syndrome based on absence of hearing or eye abnormalities.

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