Living related kidney transplantation in a patient with autosomal-recessive Alport syndrome

Clin Transplant. 2003;17 Suppl 10:4-8. doi: 10.1034/j.1399-0012.17.s10.5.x.


We discuss a patient with Alport syndrome who received a renal transplant from a donor with thin basement membrane disease. A 30-year-old woman, diagnosed with Alport syndrome on the basis of sensorineural hearing loss, characteristic renal biopsy findings and a family history of microhaematuria, entered chronic haemodialysis therapy. She then received a renal transplant donated from her father, who had sensorineural hearing loss and persistent microhaematuria. On the day of renal transplantation, a 1-h graft biopsy after reperfusion showed thin basement membrane disease. We re-tested the patient's native kidney biopsy specimen by immunohistochemical staining using alpha-chain-specific collagen type IV monoclonal antibodies. There was no expression of collagen type IV alpha3-, alpha4- and alpha5-chain on glomerular basement membrane, but positive staining of alpha5-chain on Bowman's capsular basement membrane was noted. A diagnosis of autosomal-recessive Alport syndrome was made. We concluded that this family might display different phenotypic expressions of the same genotype: one suffered end-stage renal disease and the other thin basement membrane disease.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Humans
  • Kidney Failure, Chronic / etiology
  • Kidney Failure, Chronic / surgery*
  • Kidney Transplantation / pathology*
  • Living Donors*
  • Nephritis, Hereditary / complications
  • Nephritis, Hereditary / genetics*
  • Nephritis, Hereditary / surgery*