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X-linked Alport syndrome/KCNE1L mutation associated
Genetics:
- X-linked contiguous gene deletion syndrome
- associated defects in KCNE1L
Clinical manifestations:
- mental retardation
- midface hypoplasia
- glomerulonephritis
- deafness
Laboratory: -peripheral blood smear: elliptocytosis
Database Correlations
OMIM 300194
References
- Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed)
Lippincott-Raven, Philadelphia, 1998, pg 611
- 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
- Medical Knowledge Self Assessment Program (MKSAP) 20
American College of Physicians, Philadelphia 2025
- 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: 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: 27190345 Free PMC Article
- NEJM Knowledge+ Nephrology/Urology
- Kashtan CE.
Alport syndrome: achieving early diagnosis and treatment.
Am J Kidney Dis. 2021;77:272-9.
PMID: 32712016
- Vivante A
Genetics of Chronic Kidney Disease
N Engl J Med 2024;391:627-639
PMID: 39141855
https://www.nejm.org/doi/full/10.1056/NEJMra2308577