Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.

Background: This study determined the family history and clinical features that suggested autosomal recessive rather than X-linked Alport syndrome.

Methods: All patients had the diagnosis of Alport syndrome and the mode of inheritance confirmed by genetic testing, and underwent examination at a single centre.

Results: Patients comprised 9 males and 6 females with autosomal recessive Alport syndrome, and 18 males and 22 females with X-linked disease.

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

Alport syndrome is an inherited disease characterized by hematuria, progressive renal failure, hearing loss, and ocular abnormalities. Autosomal recessive Alport syndrome is suspected in consanguineous families and when female patients develop renal failure. Fifteen percent of patients with Alport syndrome have autosomal recessive inheritance caused by two pathogenic mutations in either COL4A3 or COL4A4.