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thin glomerular basement membrane disease; benign familial hematuria

Epidemiology: - may affect up to 5% of population [2] Pathology: - electron microscopy - thin glomerular basement membrane is ~ 200 nm thick - no glomerulosclerosis Genetics: - family history may be noted - 50% report family history of hematuria without renal failure [2] - autosomal dominant inheritance - heterozygous mutations in collagen type-4 genes a) mutation in collagen type-4 alpha-3 (COL4A3) b) mutation in collagen type-4 alpha-4 (COL4A4) [2] Clinical manifestations: - often initially occurs in childhood - patients present with hematuria - microscopic hematuria or macroscopic hematuria - renal failure is uncommon Laboratory: - urinalysis a) microscopic hematuria (or gross hematuria) - erythrocytes may be dysmorphic (suggestion glomerular origin) b) proteinuria may present, but generally not significant Special laboratory: 1) cystoscopy 2) renal biopsy Radiology: - renal ultrasound - CT urogram is normal Complications: - progression to end-stage renal disease is rare [2] Differential diagnosis: - Alport syndrome (X-linked, hearing impairment, proteinuria, renal failure) - females may have a benign course manifesting only as hematuria [6] - IgA nephropathy Management: - control blood pressure - ACE inhibitor to diminish proteinuria [2] - long-term prognosis is excellent [2]

General

glomerulonephropathy; glomerulopathy genetic disease of the kidney

Database Correlations

OMIM correlations

References

  1. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 611
  2. 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. OMIM :accession 141200
  4. OMIM :accession 120131
  5. Tryggvason K, Patrakka J. Thin basement membrane nephropathy. J Am Soc Nephrol. 2006 Mar;17(3):813-22. Review. PMID: 16467446 Free Article
  6. NEJM Knowledge+ Nephrology/Urology