ESPN 51th Annual Meeting

ESPN 2018


 
Primary hyperoxaluria type 1 presented with obstructive uropathy: Pediatric Case.
CANER ALPARSLAN 1 DEMET ALAYGUT 1 BELDE KASAP DEMIR 2 SEÇIL ARSLANSOYU ÇAMLAR 1 FATMA MUTLUBAS 1 EREN SOYALTIN 1 ONDER YAVASCAN 1

1- IZMIR TEPECIK TRAINING AND RESEARCH HOSPITAL, PEDIATRIC NEPHROLOGY CLINIC, IZMIR , TURKEY
2- IZMIR KATIP CELEBI UNIVERSITY DEPARTMENT OF PEDIATRIC NEPHROLOGY AND RHEUMATOLOGY
 
Introduction:

 Primary hyperoxaluria type 1 is a rare autosomal recessive disorder which caused by inborn errors of glyoxylat metabolism. Most of the patients are presented with recurrent urolithiasis or nephrocalcinosis.

Material and methods:

 

9-year-old boy refered to our clinic left ureter distal stone and bilateral multiple stones . Recurrent abdominal pain is the only complaint. Left lower quadrant pain was detected in physical examination. In his laboratory: blood urea nitrogen:67 mg/dl, creatinine:1.5 mg/dl (eGFR: 24.1 ml/min/1.73m2), uric acid:4.2 mg/dl, sodium:132 mmol/l, potasium:4.98 mmol/l, calcium:9.5 mg/dl, phosphorus:5.1 mg/dl, magnesium: 1.8 mg/dl, pH:7.37, HCO3:19 mmol/l, BE:-7, albumine:3.6 g/dl, total protein:6.6 gr/dl, hemoglobin:11.7 g/dl. There was  trace proteinuria and >5 morphic eryhtocyte in urine.  Urinary system ultrason was detected that there were multiple stones in both kidney and maximal diameter of the stones in right and left kidneys were 17mm and 13 mm, respectively. There were also left distal ureteric stone which accompained with proximal ureteric dilatation was detected. In his stone disease rotuine laboratory examination: PTH:16.4 ng/ml, 25-OH vitamin D:17.31 ng/ml, FeNa:%4.3, FeK: %34.9, TPR:%95.8, FeUA:%20.5, urine oxalate/creatinine:452.94 mg/g(N:0.65), urine citrate/creatinine:22.94 mg/g(N:250-845) and urine cystine:7.11 umol/mol cr(N:4-22). The patient underwent open surgery to the left kidney due to obstructive uropathy and multiple bilateral stones. In follow-up, serum creatinine decreased to 0.9 mg/dl. Stone analysis showed calcium oxalate monohydrate (Whewellite) and calcium oxalate dihydrate (Weddelite). 

Results:

 In his follow-up patient underwent 2 session of ESWL and one endoscopic surgery for the management of the stones. At the end of the third year of his follow-up, genetic analysis showed homozygot pathogenic c.33dupC mutation in AGXT gene. Recently, his serum creatinine is 0.9 mg/dl(eGFR:83 ml/min/1.73m2), and bilateral multiple stone in kidneys in ultrasound examination. 

Conclusions:

 In conclusion, primary hyperoxaluria type 1 should be kept in mind in children especially in young age with multiple stones.