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Clin Exp Nephrol. 2009 Oct;13(5):531-2. doi: 10.1007/s10157-009-0183-5. Epub 2009 May 14.

Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association.

Abstract

Noonan syndrome is characterised by short stature, typical facial dysmorphology and congenital heart defects. Urogenital abnormalities are reported in 10% of the cases. We present a 14-year-old girl with characteristic features of Noonan syndrome and nephrotic-range proteinuria. She had crossed fused ectopic kidneys. Renal biopsy showed focal segmental glomerulosclerosis. Oral steroids were instituted and she responded well. The case highlights this novel renal presentation of Noonan syndrome.

PMID:
19437094
[PubMed - indexed for MEDLINE]
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