Case history
Case history
An 18-year-old man presents to his primary care physician with a nonspecific history of malaise. Mild sensorineural hearing loss had been diagnosed during his early education, although hearing aids were not required. Investigations reveal hematuria, heavy proteinuria, and hypertension. There was a history of macroscopic hematuria in infancy associated with an intercurrent infection and high fever. As the patient's family had moved frequently he was lost to follow-up.
Other presentations
In women with X-linked Alport syndrome, more than 95% will have microscopic hematuria and 75% will develop proteinuria.[7] Approximately 30% of women will have some hearing impairment compared with about 80% of men. Many females are identified through family studies after the diagnosis is made in an affected male relative.
Deletions of COL4A5 or COL4A6 can cause Alport syndrome and diffuse leiomyomatosis. This is defined by the association of Alport syndrome with esophageal, gastric, vulvovaginal, and bronchial leiomyomas, and clitoral hypertrophy.[13] Symptoms include dysphagia, recurrent bronchitis, and altered bowel habit.[14] Cataract has also been described.[15] A rare syndrome of Alport syndrome with learning disability, midface hypoplasia, and elliptocytosis has also been described due to a contiguous gene deletion involving COL4A5.[12]
Variants in COL4A3, COL4A4, and COL4A5 have been identified in individuals with other phenotypes including persistent proteinuria, steroid resistant nephrotic syndrome, focal segmental glomerulosclerosis, familial IgA glomerulonephritis, and end-stage kidney disease of unknown cause.[16]
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