ESPN 51th Annual Meeting

ESPN 2018


 
A RARE CAUSE OF KIDNEY STONES: XANTHINE OXIDASE DEFICIENCY
OZLEM YUKSEL AKSOY 1 FATMA SEMSA CAYCI 1 ZEHRA AYDIN 1 OZLEM UNAL 2 MEHMET GUNDUZ 2 UMUT SELDA BAYRAKCI 1

1- ANKARA CHILDRENS HEALTH, HEMATOLOGY-ONCOLOGY TRAINING AND RESEARCH HOSPITAL, DEPARTMENT OF PEDIATRIC NEPHROLOGY
2- ANKARA CHILDRENS HEALTH, HEMATOLOGY-ONCOLOGY TRAINING AND RESEARCH HOSPITAL, DEPARTMENT OF PEDIATRIC METABOLISM AND NUTRITION
 
Introduction:

 Uric acid is an important end product of purine metabolism. Low uric acid levels in serum and urine might suggest xanthine oxidase (dehydrogenase) deficiency.

Material and methods:

 A six -year- old girl, who had been diagnosed with kidney stones and undergone shockwave lithotripsy procedure in another hospital, applied to our pediatric nephrology department for routine follow-up. The type of the patient’s stones  was not known. In order to identify the etiology of stone disease, laboratory tests were performed. 

Results:

 Serum uric acid level of the patient was 0 mg/dL, and urine uric acid excretion was 0 mg/dL, too. Other routine biochemical tests and urine tests were normal. The patient was referred to metabolic diseases department with suspicion of xanthine oxidase deficiency, where the diagnosis was confirmed by molecular genetic analysis. A homozygous mutation was detected in XDH gene, at c.273C<T position.

Conclusions:

 Xanthine oxidase deficiency is a rare metabolic disease which might cause kidney stones. Biochemical work-up is important to clarify the etiology of urolithiasis.