thin glomerular basement membrane disease; benign familial hematuria
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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
Clinical manifestations
- often initially occurs in childhood
- patients present with hematuria
- renal failure is uncommon
Laboratory
- urinalysis
- microscopic hematuria (or gross hematuria)
- erythrocytes may be dysmorphic (suggestion glomerular origin)
- proteinuria may present, but generally not significant
- microscopic hematuria (or gross hematuria)
Diagnostic procedures
Radiology
- renal ultrasound
- CT urogram is normal
Complications
- progression to end-stage renal disease is rare[2]
Differential diagnosis
Management
- control blood pressure
- ACE inhibitor to diminish proteinuria[2]
- long-term prognosis is excellent[2]
More general terms
References
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 611
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 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 - ↑ OMIM https://mirror.omim.org/entry/141200
- ↑ OMIM https://mirror.omim.org/entry/120131
- ↑ Tryggvason K, Patrakka J. Thin basement membrane nephropathy. J Am Soc Nephrol. 2006 Mar;17(3):813-22. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/16467446 Free Article
- ↑ 6.0 6.1 NEJM Knowledge+ Nephrology/Urology