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Alport syndrome with mental retardation midface hypoplasia & elliptocytosis
Pathology:
- defect in type 4 collagen [3]
- disease affects basement membranes
Genetics:
- X-linked contiguous gene deletion syndrome
- associated with defects in AMMECR1
- associated with defects in ACSL4
Clinical manifestations:
- glomerulonephritis
- sensorineural deafness
- mental retardation
- midface hypoplasia
- ocular abnormalities
Laboratory:
- peripheral blood smear: elliptocytosis
- renal function testing
- urinalysis
- proteinuria
- hematuria
Management:
- renal transplantation for end-stage renal disease
- underlying disease for not recur in renal transplant [2]
General
Alport syndrome; hereditary nephropathy
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 300194
References
- OMIM :accession 300194
- Medical Knowledge Self Assessment Program (MKSAP) 16, 18.
American College of Physicians, Philadelphia 2012, 2018.
- Gubler MC.
Inherited diseases of the glomerular basement membrane.
Nat Clin Pract Nephrol. 2008 Jan;4(1):24-37.
PMID: 18094725