Table 2.

Number of diagnostic criteria in 193 Alport syndrome families with COL4A5 mutations

No. of CriteriaaNo. of FamiliesPercentage of Families
aIn addition to the presence of hematuria in the proband. Two unrelated nonhematuric female patients with sporadic and isolated diffuse esophageal leiomyomatosis were excluded from the analysis. The following diagnostic criteria were scored: family history of hematuria; progressive sensorineural hearing loss; characteristic ocular changes (lenticonus and/or maculopathy); typical ultrastructural changes of the GBM; diffuse esophageal leiomyomatosis; and abnormal GBM distribution of the α(IV) chains.
010.5%
1147.5%
25830%
37941%
43116%
594.5%
610.5%