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Alport syndrome

Last updated: January 12, 2021

Summary

Alport syndrome is a genetic disorder that is characterized by glomerulonephritis, often in combination with sensorineural hearing loss and sometimes eye abnormalities. It is caused by a genetic defect of type IV collagen, which is usually inherited in an X-linked dominant pattern. Patients typically present with intermittent gross hematuria during infancy. In adolescence, patients classically start to develop more serious signs of chronic kidney disease (e.g., proteinuria), and may experience hearing loss or, in rare cases, vision problems. In milder forms, patients may remain asymptomatic and only require monitoring. In classic Alport syndrome, diagnostic evaluation shows persistent microhematuria on urinalysis and splitting of the glomerular basement membrane on kidney biopsy. The classic form usually leads to end-stage renal disease (ESRD) between the second and third decade of life, and the only definitive treatment is a kidney transplant.

Epidemiology

  • Rare disorder [1]
  • The most common hereditary nephritis

Epidemiological data refers to the US, unless otherwise specified.

Etiology

Pathophysiology

Clinical features

Patients with Alport syndrome can't pee, can't see, can't hear a bee.

Diagnostics

Treatment

References

  1. Watson S, Padala SA, Bush JS. Alport Syndrome. StatPearls. 2020 .
  2. Rheault M. et al.. X-inactivation modifies disease severity in female carriers of murine X-linked Alport syndrome. Nephrology Dialysis Transplanation. 2009 .
  3. Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.. J Am Soc Nephrol. 2000; 11 (4): p.649-57.
  4. Zhang X, Zhang Y, Zhang Y, et al. X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males. Orphanet J Rare Dis. 2018; 13 (1). doi: 10.1186/s13023-018-0974-4 . | Open in Read by QxMD
  5. Savige J, Colville D, Rheault M, et al. Alport Syndrome in Women and Girls.. Clin J Am Soc Nephrol. 2016; 11 (9): p.1713-20. doi: 10.2215/CJN.00580116 . | Open in Read by QxMD
  6. Brainwood D, Kashtan C, Gubler MC, Turner AN. Targets of alloantibodies in Alport anti-glomerular basement membrane disease after renal transplantation.. Kidney Int. 1998; 53 (3): p.762-6. doi: 10.1046/j.1523-1755.1998.00794.x . | Open in Read by QxMD