Alport Syndrome

Excerpt

The term Alport syndrome is used to describe a group of heterogeneous inherited disorders involving the basement membrane of the kidney and commonly affecting the cochlea and eye. Alport syndrome, also known as hereditary nephritis, is a genetic disorder arising from the mutations in the genes encoding alpha-3, alpha-4, and alpha-5 of type 4 collagen (COL4A3, COL4A4, COL4A5) or collagen 4 α345 network.

The type 4 collagen alpha chains are primarily located in the kidneys, eyes, and cochlea. Alport syndrome is X-linked (XLAS) and can be transmitted in an autosomal recessive (ARAS) or autosomal dominant fashion (ADAS). In 1927, the syndrome of hereditary nephritis and deafness was described by a British physician, A. Cecil Alport. It was observed that hematuria was the most common symptom, and males were affected more than females. In 1961, it was named Alport syndrome after having been observed in multiple family members. It is characterized by renal failure, bilateral sensorineural hearing loss, and eye abnormalities. Eventually, the patients present with proteinuria, hypertension, progressive loss of kidney function (gradual decline in GFR), and end-stage renal disease (ESRD).