Open AccessRenal failure in Hay-Wells syndrome
Author(s) -
Dhanya Mohan,
Dileep K Sugathan,
Mohammed Railey,
Mona Alrukhaimi
Publication year - 2013
Publication title -
saudi journal of kidney diseases and transplantation/našrat amraḍ wa zira'aẗ al-kulaẗ
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.268
H-Index - 30
eISSN - 2320-3838
pISSN - 1319-2442
DOI - 10.4103/1319-2442.121301
Subject(s) - medicine , genitourinary system , renal dysplasia , ectodermal dysplasia , end stage renal disease , vesicoureteral reflux , nephrotic syndrome , renal function , surgery , urology , disease , dermatology , urinary system , reflux
Ectodermal dysplasia (ED) is a group of disorders involving developmental defects of the ectodermal structures, with abnormalities in the skin, hair, nails and sweat glands. Ankyloblepharon - ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is characterized by eyelid fusion, ED and cleft lip/palate. We report a 15-year-old Omani boy with AEC syndrome who presented with end-stage renal disease (ESRD) requiring renal replacement therapy. Genitourinary anomalies including hypospadiasis, posterior urethral stricture and bilateral vesicoureteric reflux were noted. These led to secondary focal segmental glomerulosclerosis and ESRD. Screening for genitourinary anomalies and renal function tests must be performed in all patients with ED to facilitate early detection of renal disease and appropriate management.