Alport syndrome; hereditary nephropathy

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Epidemiology

  • males have worse prognosis

Pathology

Genetics

* defects in COL4A3 & COL4A4 also associated with thin glomerular basement membrane disease

Clinical manifestations

Laboratory

More general terms

More specific terms

References

  1. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 611
  2. 2.0 2.1 2.2 2.3 2.4 Medical Knowledge Self Assessment Program (MKSAP) 11, 16, 17, 18, 19. American College of Physicians, Philadelphia 1998, 2012, 2015, 2018, 2021.
    Medical Knowledge Self Assessment Program (MKSAP) 19 Board Basics. An Enhancement to MKSAP19. American College of Physicians, Philadelphia 2022
  3. 3.0 3.1 ARUP Consult: Alport Syndrome The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/alport-syndrome
  4. Haas M. Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis. Arch Pathol Lab Med. 2009 Feb;133(2):224-32 PMID: https://www.ncbi.nlm.nih.gov/pubmed/19195966
  5. Gross O, Kashtan CE, Rheault MN et al Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome. Nephrol Dial Transplant. 2017 Jun 1;32(6):916-924. PMID: https://www.ncbi.nlm.nih.gov/pubmed/27190345 Free PMC Article
  6. 6.0 6.1 NEJM Knowledge+ Nephrology/Urology

Database