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

CASE REPORT

A 16-year-old boy was 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. At that time, surgical correction of bilateral branchial cysts and fistulae at the Ear, Nose and Throat Department, University Clinical Center of Kosovo, Pristina, Republic of Kosovo, was planned. As laboratory evaluation revealed high serum creatinine levels, the patient was referred to our department and renal insufficiency was diagnosed. However, the parents refused hospitalization, thus we did not have any information on the patient until now. Clinical examination on readmission showed a pale, lethargic and edematous child, with auricular pinnae deformity, pre-auricular tags and pits as well as bilateral branchial fistulae as shown in Figures 1 and 2. His weight was 71 kg and height 163 cm. Laboratory tests were as the follows: red blood cell (RBC) count: 3.57 × 1012/L; white blood cell (WBC) count: 6.0 × 109/L; platelets: 242 × 109/L; hemoglobin (Hb): 11.0 g/dL; hematocrit or packed cell volume (PCV): 0.30 L/L; blood urea nitrogen (BUN): 15.96 mmol/L; serum creatinine: 633.0 μmol/L; total proteins: 7.47 g/dL; albumin: 5.09 g/dL; glycemia: 5.19 mmol/L; erythrocyte sedimentation rate (ESR): 40 mm/hour; C-reactive protein (CRP): 24 mg/dL; procalcitonine: 1.07 ng/mL, urinalysis revealed massive proteinuria (4+) and 24 hour protein collection was 2.738 g/24 hour. Clotting screen was normal. Glomerular filtration rate (GFR) was 12 mL/min./1.73 m2 corresponding with grade 5 of chronic kidney disease. A central venous catheter was placed and hemodialysis was initiated. Renal ultrasound showed bilateral kidney hypoplasia (Figure 3). In addition, bilateral fistulae were noticed in the neck of the patient (Figure 2), and the ultrasound of neck structures found communicating with an anechogen structure (possible puss) in the submandilar region. Conductive hearing impairment was documented with 50-70 dB on audiogram, encountering another major phe-notypic feature. Ophthalmological examination was revealed to be normal except for small refractory errors. Furthermore, genetic analysis detected a premature stop codon (nonsense) mutation on p.Gln543* (c.1627C>T) of the EYA1 gene. It is a novel mutation that clearly causes severe damage on protein function. Phenotypic features of his father and sister are consistent with BOR syndrome and are illustrated in Figure 4. Examination of other members of the family was attempted but we could not acquire their consent. Renal transplantation is planned. Until then, the patient is receiving hemodialysis on a daily basis.



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