ESPN 51th Annual Meeting

ESPN 2018


 
A SINGLE CENTER STUDY OF THE PATIENTS WITH CYSTINURIA
DEMET TEKCAN 1 OZLEM AYDOG 1 GURKAN GENC 2 NERGIS KENDIRCI 3 HULYA NALCACIOGLU 4 OZAN OZKAYA 5

1- ONDOKUZ MAYIS UNIVERSITY FACULTY OF MEDICINE, PEDIATRIC NEPHROLOGY DEPARTMENT
2- SPECIAL CLINIC, MD, PEDIATRIC NEPHROLOGY
3- ONDOKUZ MAYIS UNIVERSITY FACULTY OF MEDICINE, PEDIATRIC RHEUMATOLOGY DEPARTMENT
4- KAYSERI EDUCATION AND RESEARCH HOSPITAL, PEDIATRIC NEPHROLOGY DEPARTMENT
5- ISTINYE UNIVERSITY FACULTY OF MEDICINE, PEDIATRIC NEPHROLOGY DEPARTMENT
 
Introduction:

Cystinuria is an autosomal recessive disorder. This rare disease associated with impairment of renal function and lower quality of life because of recurrent stone formations and multiple urological procedures.

Material and methods:

We have presented the demographic features, presenting symptoms, stone characteristics, treatments and outcomes of 7 patients with cystinuria.

Results:

Seven patients (5 girls, 2 boys) were included. The median age at presentation was 1 year (0,33-4,5 years) and median follow-up duration was 6.4 years (1,77-17 years).

Four patients presented with acute kidney injury (AKI). Other symptoms were urinary tract infection, abdominal pain and discomfort. The median number of stones at presentation was 6 (2-7). Three patients had staghorn calculi, and 6 patients had stones bilaterally. The diagnosis of cystine stones was performed with stone analysis in 6 patients, and in one patient with 24-hour urine analysis.

All patients were recommended oral hydration, dietary sodium restriction, alkalinization of the urine with potassium citrate. Pharmacologic treatment with tiopronin as cystine-binding agents was given to patients in whom conservative therapy fails.

Urologic intervention was indicated in selected patients. Four patients who were presented with AKI were inserted of a double J stent urgently, 2 of them also needed acute peritoneal dialysis. One patient underwent extracorporal shock wave lithotripsy (ESWL),5 patients needed percutaneous ultrasonic lithotripsy, and 2 patients ureterorenoscopy with laser lithotripsy. One patient needed no urological procedure.

At last visit, median age of the patients was 7.91 years (2-18 years), and all patients had normal renal function. While 5 patients were stone-free, two patient had small stones (<5 mm diameter).

Conclusions:

Cystinuria is a rare disease with serious results like renal failure. Full compliance with supportive and medical management, and close follow-up result in significantly reduced urinary cystine excretion and good long-term prognosis in most patients.