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Alport syndrome (AS) is a progressive glomerulonephritis associated with sensorineural hearing loss with a prevalence of about 1 in 50,000 live births. X-linked Alport syndrome usually manifests in affected males with microscopic hematuria and progressive sensorineural hearing loss during childhood or adolescence. Later, patients develop proteinuria and progressive renal failure, which eventually leads to end-stage renal disease in their 30s and 40s. Ocular symptoms are also common and may include maculopathy, posterior polymorphous dystrophy, and recurrent corneal erosion. Anterior lenticonus is considered to be virtually pathognomonic for Alport syndrome. X-linked Alport syndrome is semi-dominant and often manifests in female carriers. Approximately 90% of female carriers have microscopic hematuria, which can lead to renal failure later in life. Hearing loss is less frequent in female carriers, with a later age of onset.
Alport syndrome with diffuse leiomyomatosis is a contiguous gene deletion syndrome. The submicroscopic genomic deletions involve the COL4A5 gene and parts of the adjacent COL4A6 gene. This disorder is characterized by features of Alport syndrome and by leiomyomatosis of the esophagus and tracheobronchial tree. It manifests in late childhood and can include dysphagia, postprandial vomiting, epigastric pain, recurrent bronchitis, dyspnea, cough, and stridor. Affected females may also have genital leiomyomas.
Alport syndrome associated with mental retardation, midface hypoplasia and elliptocytosis is another contiguous gene deletion syndrome involving COL4A5 and FACL4, which encodes a long-chain acyl-CoA synthetase