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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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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