Alport syndrome with mental retardation midface hypoplasia & elliptocytosis
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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
Management
- renal transplantation for end-stage renal disease
- underlying disease for not recur in renal transplant[2]
More general terms
References
- ↑ OMIM https://mirror.omim.org/entry/300194
- ↑ 2.0 2.1 Medical Knowledge Self Assessment Program (MKSAP) 16, 18. American College of Physicians, Philadelphia 2012, 2018.
- ↑ 3.0 3.1 Gubler MC. Inherited diseases of the glomerular basement membrane. Nat Clin Pract Nephrol. 2008 Jan;4(1):24-37. PMID: https://www.ncbi.nlm.nih.gov/pubmed/18094725