Nephropathology
    
Case 94
Diagnosis
 
     
Versión en Español

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Diagnosis: Alport Syndrome

The term Alport syndrome encompasses a group of inherited, heterogeneous disorders involving the basement membranes of the kidney and frequently affecting the cochlea and eye as well. The various forms of the disease include the following (Saxena R. Alport syndrome. In: e-Medicine: Link):

  • X-linked Alport syndrome - Results from mutations in the COL4A5 gene; accounts for 85% of cases of Alport syndrome
  • Autosomal recessive Alport syndrome - Caused by mutations in either the COL4A3 or COL4A4 gene; responsible for approximately 10-15% of cases
  • Autosomal dominant Alport syndrome - Rare; caused by mutations in either the COL4A3 or COL4A4 gene in at least some families and accounts for the remainder of cases

Electron microscopy in our case, demonstrating diffuse thickening and splitting of the GBM with strikingly irregular outer and inner contours, and irregular alternation of thick and abnormally thin GBM, was of utmost importance to provide the diagnosis.

Go to the chapter: Hereditary Diseases, of our Tutorial (this chapter has only Spanish version).

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References

  • Saxena R. Alport syndrome. In: e-Medicine: Link
  • Wang Y, Sivakumar V, Mohammad M, Colville D, Storey H, Flinter F, Dagher H, Savige J. Clinical and genetic features in autosomal recessive and X-linked Alport syndrome. Pediatr Nephrol. 2013 Nov 2. [Epub ahead of print] [PubMed link]
  • Liapis H, Jain S. The interface of genetics with pathology in alport nephritis. J Am Soc Nephrol. 2013;24(12):1925-7. [PubMed link]
  • Storey H, Savige J, Sivakumar V, Abbs S, Flinter FA. COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome. J Am Soc Nephrol. 2013;24(12):1945-54. [PubMed link]
  • Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F. Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol. 2013;24(3):364-75. [PubMed link]

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