Alport syndrome historical perspective

The first report of Alport’s syndrome (hereditary nephritis) was published by the English physician Arthur Cecil Alport in the British Medical Journal in 1927. In the original description of one family with 3 generations, Alport reports that sensorineural deafness was associated with a form of progressive familial nephropathy that led to severe uremia in males but not in females. Alport first believed the syndrome was caused by a streptococcal infection responsible for the glomerular involvement.^[1]

Originally, ocular symptoms were not mentioned by Alport himself; it was not until 1954 when Sohar and colleagues showed that 50% of patients with Alport’s syndrome have spherophakia, a congenital bilateral ocular anomaly involving the lens of the eye.^[2]

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