ESPN 50th Annual Meeting

ESPN 2017


 
MUTATION OF THE EYA1 GENE IN A PATIENT WITH BRANCHIO-OTO-RENAL SYNDROME
LIDVANA SPAHIU 1 BESART MEROVCI 1 VLORA ISMAILI JAHA 1 ARBNORE BATALLI K√ęPUSKA 1 HAKI JASHARI 1

1- PEDIATRIC CLINIC, UNIVERSITY CLINICAL CENTER OF KOSOVO, PRISTINA, REPUBLIC OF KOSOVO
 
Introduction:

 Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the coexistence of branchial cysts or  stulae, external ear malformation with pre-auricular pits or tags, hearing impairment and renal malformations. However, the presence of the main features varies in affected families. 

Material and methods:

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Results:

 Here, we present a 16-year- old boy admitted to the Department of Nephrology at the Pediatric Clinic, University Clinical Center of Kosovo, Pristina, Republic of Kosovo because of severe renal in- suf ciency diagnosed 6 years ago, which progressed to end-stage renal failure. Clinical examination on readmis- sion showed a pale, lethargic and edematous child, with auricular deformity, pre-auricular tags and pits as well as bilateral branchial  stulae. Laboratory tests revealed high blood urea nitrogen (BUN) 15.96 mmol/L and serum creatinine 633.0 μmol/L; low glomerular  ltration rate (GFR) 12 mL/min./ 1.73 m2 and massive proteinuria 4+. Abdominal ultrasound showed bilateral kidney hypoplasia. A novel mutation of the EYA1 gene was con rmed. Daily hemodialysis is continuing until renal transplantation is done

Conclusions:

 This case is presented to increase awareness among general practitioners to consider BOR syndrome or other renal abnormalities in patients with branchial  stula and/ or external ear anomalies or similar  ndings in other fam- ily members.