Alport syndrome; hereditary nephropathy
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Epidemiology
- males have worse prognosis
Pathology
- signs & symptoms due to disruption of the basement membrane in the affected organ[2]
- Goodpasture's antigen is absent
- renal transplanted patients may develop anti-glomerular basement membrane disease
- macrothrombocytopenia (MYH9-associated)
Genetics
- autosomal dominant & X-linked inheritance
- autosomal dominant
- form with platelet defects associated with defects in MYH9
- mutation in collagen type-4 alpha-3 (COL4A3)*
- autosomal recessive
- X-linked contiguous gene deletion syndrome associated with defects in KCNE1L
* defects in COL4A3 & COL4A4 also associated with thin glomerular basement membrane disease
Clinical manifestations
- glomerulonephritis progressing to end-stage renal disease (ESRD) by age 16-30
- proteinuria, nephrotic syndrome
- hypertension
- high-frequency sensorineural hearing loss
- ocular abnormalities
- anterior lenticonus
- cataracts
- maculopathy
Laboratory
- complete blood count (CBC)
- may show thrombocytopenia
- peripheral blood smear:
- may show giant platelets
- may show eliptocytosis (X-linked form)
- urinalysis:
- 24 hour urine protein: nephrotic range proteinuria
- skin biopsy or renal biopsy can confirm diagnosis[2]
- see ARUP consult[3] Manageemnt:
- no specific therapy
- blood pressure control with ACE inhibitor or ARB
- renal transplantation for end-stage renal failure
- Alport syndrome does not affect transpanted kidney[2]
- 5% if transplant recipients develop anti-GBM Ab disease[2]
- no specific therapy
More general terms
More specific terms
- Alport syndrome with mental retardation midface hypoplasia & elliptocytosis
- Alport syndrome/COL4A3 mutation associated
- X-linked Alport syndrome/COL4A5 mutation associated
- X-linked Alport syndrome/KCNE1L mutation associated
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 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 - ↑ 3.0 3.1 ARUP Consult: Alport Syndrome The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/alport-syndrome
- ↑ 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
- ↑ 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
- ↑ 6.0 6.1 NEJM Knowledge+ Nephrology/Urology