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hereditary angiopathy with nephropathy, aneurysms & muscle cramps (HANAC)
Pathology:
- complex basement membrane defects in kidney & skin
- systemic angiopathy appears to affect both small vessels & large arteries
Genetics:
- associated with defects in COL4A1
Clinical manifestations:
- hematuria
- bilateral large renal cysts
Laboratory:
- urinalysis: hematuria
- kidney biopsy
- skin biopsy
General
genetic disease of blood vessels
Database Correlations
OMIM 611773
References
OMIM :accession 611773