Alport's syndrome

Alternative eponyms

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A very rare hereditary syndrome characteriszed by progressive renal failure, nerve deafness and abnormities of the lense of the eye.

Description

The main characteristics of this very rare hereditary syndrome are progressive renal failure, nerve deafness and abnormities of the lense of the eye. Male/female relationship 1:1. Men are earlier and more severely affected than women. It is thought to be due to an autosomal inherited defect of the glomerular basement membrane of the kidneys. Death usually occurs before middle age.

In 1902 L. B. Guthrie reported a family in which 12 individuals showed recurrent hematuria. At the time of this report, none of the affected individualt exhibited evidence of chronic renal damage. Arthur Frederick Hurst (1879-) in 1923 described the development of uremia in several members of this family. Alport updated the pedigree to extend over three generations. He recognised that deafness was a syndromic component and that the disorder tended to be more severe in males than females, that affected males died of uremia, while females lived to old age. In the opening paragraphs of his paper, he commented that familial albuminuria had been reported by William Howship Dickinson (1832-1913) in 1875.

Bibliography

  • L. B. Guthrie (probably: Leonard George Guthrie, 1858-1918):
    Interstitial nephritis in childhood. London, 1897.
  • L. B. Guthrie: (Probably: Leonard George Guthrie 1858-1918):
    ”Idiopathic,” or congenital, hereditary and familial haematuria.
    Lancet, London, 1902, 1: 1243-1246.
  • A. F. Hurst:
    Hereditary familial congenital haemorrhagic nephritis occurring in sixteen individuals in three generations.
    Guy’s Hosp Rec, 1923, 3: 368-370.
  • W. H. Dickinson:
    Diseases of the kidney and urinary derangements.
    London, Langmans, 1875; part 2: 278.
  • A. C. Alport:
    Hereditary familial congenital haemorrhagic nephritis.
    British Medical Journal, London, 1927, I: 504-506.

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