Table 2.

Other causes of the characteristic features of Alport syndrome

Clinical FeatureCauses
Persistent familial hematuriaGlomerular hematuria
 Familial IgA disease
MYH9-related disorders (Fechtner, Epstein syndromes)
 Membranoproliferative GN type 2 (dense deposit disease)
 Familial hemolytic uremic syndrome
 C3 nephropathy
Nonglomerular hematuria
 Autosomal dominant polycystic kidney disease
 Sickle cell disease or trait
 Familial hypercalciuria, other familial forms of urolithiasis
Renal failure plus hearing lossMYH9-related disorders (Fechtner syndrome)
Bartter syndrome
Distal renal tubular acidosis
MELAS syndrome
Fabry disease
Branchio-oto-renal syndrome
Townes-Brock syndrome
CHARGE syndrome
Kallmann syndrome
Alstrom disease
Muckle-Wells syndrome
Hearing lossMiddle-ear infections
Industrial noise exposure
Ototoxic drugs
Renal failure, dialysis
Retinal flecksMembranoproliferative GN type 2
IgA disease, systemic lupus erythematosus, and some other forms of GN
Severe hypertension (macular star)
C3 nephropathy
Lamellated GBMFocal damage
MYH9-related disorders (Fechtner, Epstein syndromes)
Pierson syndrome
Nail-patella syndrome
Mutations in the tetraspanin (CD151) gene
Frasier syndrome
Galloway-Mowat syndrome
  • MELAS, mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; CHARGE, coloboma, heart anomalies, choanal atresia, retardation of growth and development, and genital and ear anomalies.