Conditions / Syndrome
Alport syndrome 3B
info · Syndrome
An Alport syndrome that is characterized by glomerular basement membrane abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 gene on chromosome 2q36. Sensorineural hearing loss and ocular manifestations may b
An Alport syndrome that is characterized by glomerular basement membrane abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 gene on chromosome 2q36. Sensorineural hearing loss and ocular manifestations may be present.
Signs and symptoms
- Renal insufficiency
- Proteinuria
- Microscopic hematuria
- Stage 5 chronic kidney disease
- Bilateral sensorineural hearing impairment
- Hearing impairment
- Nephrotic syndrome
- Thin glomerular basement membrane
- Sensorineural hearing impairment
- Albuminuria