Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association.
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.
Department of Nephrology, All India Institute of Medical Sciences, New Delhi, 110029, India. parthankur@yahoo.com.|AIIMS, Ansari Nagar, New Delhi, 110088, India. parthankur@yahoo.com.
Ankur
A
Gupta
Department of Nephrology, All India Institute of Medical Sciences, New Delhi, 110029, India.
Ambar
A
Khaira
Department of Nephrology, All India Institute of Medical Sciences, New Delhi, 110029, India.
Charanjit
C
Lal
Department of Nephrology, All India Institute of Medical Sciences, New Delhi, 110029, India.
Sandeep
S
Mahajan
Department of Nephrology, All India Institute of Medical Sciences, New Delhi, 110029, India.
Suresh C
SC
Tiwari
D000293:Adolescent; D005260:Female; D005923:Glomerulosclerosis, Focal Segmental / Q000188:drug therapy / Q000473:pathology*; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D009634:Noonan Syndrome / Q000188:drug therapy / Q000473:pathology*; D013256:Steroids / Q000627:therapeutic use
D013256:Steroids