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Alport syndrome

From SNPedia

Alport syndrome is a genetic disorder affecting around 1 in 50,000 children, characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. Alport syndrome can also affect the eyes, though the changes do not usually affect sight, except when changes to the lens occur in later life. Blood in urine is universal. Proteinuria is a feature as kidney disease progresses.Wikipedia

Alport syndrome is caused by mutations in the COL4A3, COL4A4, and COL4A5 genes, and over 1,500 mutations have been reported. In most people with Alport syndrome (about 85%), the condition is inherited in an X-linked pattern, due to mutations in the COL4A5 gene. Less commonly, the condition is inherited in an autosomal recessive pattern if both copies of the COL4A3 or COL4A4 gene, both located on chromosome 2, have been mutated.Wikipedia

A form of Alport syndrome including the clinical symptoms of midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis was reported based on two (separate) mutations in the AMMECR1 gene.

A 2017 post in the Alport Syndrome News states that individuals with one genetic mutation rather than two — whose Alport diagnosis some doctors might miss — should receive closer monitoring and treatment. For example, Alport patients who carry only one mutated gene, but still have symptoms of the disease, should no longer be referred to as carriers, because that label may prevent them from being treated, or being treated late.

Clinical utility gene card available:[PMID 25388007OA-icon.png]

Alport Syndrome: NORD Review