Alport’s Syndrome

  • Martin C. Gregory


Every nephrologist knows what Alport’s syndrome is, but no one can define it to the satisfaction of all. Cecil Alport emphasized the association of deafness with nephritis in the family he studied (1). In deference to his contribution, Alport’s syndrome commonly denotes hereditary hematuric nephritis with deafness. This simple definition has several drawbacks. Firstly, true deafness, defined as inability to hear and understand speech even with amplification (2), is rarely found in Alport patients; hearing loss is a more precise term. Secondly, families with and others without appreciable hearing loss have clinically, histologically, ultrastructurally, and immunochemically indistinguishable renal disease (3). Thirdly, mutations in COL4A5*, the gene responsible for many or most cases of Alport’s syndrome, have been found in families with (4, 5) and without (6–8) hearing loss. Hearing loss is best regarded as one of the features shown by some kindreds but not others: ocular abnormalities, abnormalities of the formed elements of the blood, and esophageal, tracheobronchial and genital leiomyomatosis fall into the same category.


Hearing Loss Glomerular Basement Membrane Alport Syndrome Collagen Chain Thin Basement Membrane Nephropathy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag London Limited 1992

Authors and Affiliations

  • Martin C. Gregory
    • 1
  1. 1.Divisions of Internal Medicine and Nephrology, Department of MedicineUniversity of Utah School of MedicineSalt Lake CityUSA

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