CASE REPORT OF A NOVEL MUTATION OF THE EYA1 GENE
IN A PATIENT WITH BRANCHIO-OTO-RENAL SYNDROME
Spahiu L, Merovci B, Ismaili Jaha V, Batalli Këpuska A, Jashari H
*Corresponding Author: Dr. Besart Merovci, Pediatric Clinic, University Clinical Center of Kosovo, Pristina, Republic
of Kosovo. Tel: +377-44-161-538. E-mail: m_besart@hotmail.com
page: 91
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Abstract
Branchio-oto-renal (BOR) syndrome is an autosomal
dominant disorder characterized by the coexistence of
branchial cysts or fistulae, 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. Here, we present a 16-yearold
boy admitted to the Department of Nephrology at the
Pediatric Clinic, University Clinical Center of Kosovo,
Pristina, Republic of Kosovo because of severe renal insufficiency
diagnosed 6 years ago, which progressed to
end-stage renal failure. Clinical examination on readmission
showed a pale, lethargic and edematous child, with
auricular deformity, pre-auricular tags and pits as well
as bilateral branchial fistulae. Laboratory tests revealed
high blood urea nitrogen (BUN) 15.96 mmol/L and serum
creatinine 633.0 μmol/L; low glomerular filtration 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 confirmed. Daily
hemodialysis is continuing until renal transplantation is
done. This case is presented to increase awareness among
general practitioners to consider BOR syndrome or other
renal abnormalities in patients with branchial fistula and/
or external ear anomalies or similar findings in other family
members.
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