Literature DB >> 24231488

Renal failure in Hay-Wells syndrome.

Dhanya Mohan1, Dileep K Sugathan, Mohammed Railey, Mona Alrukhaimi.   

Abstract

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.

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Year:  2013        PMID: 24231488     DOI: 10.4103/1319-2442.121301

Source DB:  PubMed          Journal:  Saudi J Kidney Dis Transpl        ISSN: 1319-2442


  1 in total

1.  A rare variant of ankyloblepharon filiforme adnatum associated with skin hypopigmentation: A case report from South India.

Authors:  Shilpa Elizabeth Kuruvilla; Arathi Roddam Simha
Journal:  Indian J Ophthalmol       Date:  2016-03       Impact factor: 1.848

  1 in total

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