ESPN 51th Annual Meeting

ESPN 2018


 
A CHILD WITH HEARING LOSS
OZLEM YUKSEL AKSOY 1 FATMA SEMSA CAYCI 1 SERDAR CEYLANER 2 UMUT SELDA BAYRAKCI 1 EMEL ISIYEL 1

1- ANKARA CHILDRENS HEALTH, HEMATOLOGY-ONCOLOGY TRAINING AND RESEARCH HOSPITAL, DEPARTMENT OF PEDIATRIC NEPHROLOGY
2- INTERGEN GENETIC CENTER/ANKARA, TURKEY
 
Introduction:

Bartter syndrome with sensorineural hearing loss is a disease characterized by renal salt wasting and dehydration which usually starts at neonatal period or early infancy. Renal failure may develop rapidly, in some cases renal functions may be preserved. The patient presented here, having hearing loss but is otherwise healthy until the age of three, has been diagnosed with Bartter syndrome type IV.

Material and methods:

 We report a three -year- old male patient with sensorineural hearing loss, who was referred to otorhinolaryngology department with cochlear implantation plan. Routine laboratory examination before operation revealed hypokalemia (K: 2.4 mmol/L). Further laboratory analysis revealed metabolic alkalosis together with high renin (983 pg/mL) and aldosteron (2891 ng/dL) levels. When the history of the patient was questionned it is learned that the patient was born prematurely, and the pregnancy was complicated with polyhydramniosis. Complications like dehydration, electrolyte imbalances or polyuria were not recorded, and the patient did not experience any health problems until that age, except hearing loss.

Results:

Type IV Bartter syndrome was considered in the patient who had hypokalemia, metabolic alkalosis, hyperreninemia together with sensorineural hearing loss. Genetic analysis showed a homozoygous mutation in BSND gene at p.G47R locus. The patient was administered oral potassium chloride treatment. The patient’s mother and father, both, were found to carry heterozygous mutation of the same gene.

Conclusions:

Despite the fact that Bartter syndrome with sensorineural hearing loss usually manifests at early infancy, in selective cases with milder mutations the symptoms of renal problems may be vague. In patients with hearing loss, a careful antenatal and postnatal history should be taken and Bartter syndrome type IV must be thought in cases with electrolyte imbalance and polyuria.