RESUMO
Type-II Xanthanuria is an genetic disorder associated with diminished serum uric acid levels. Patients with xanthanuria has absence of xanthine oxidase or xanthine dehydrogenase activity, the enzyme that converts hypoxanthine to xanthine and xanthine to uric acid. Deficiency of these enzyme leads to elevated levels of xanthine in urine which further leads to precipitation of xanthine in urine which further helps to formation of renal stones and ultimately leads to chronic kidney disease and end stage renal disease. We report a 23 years old male, who reached ESRD due to Type 2 xanthinuria, which was confirmed by genetic studies, who later successfully underwent renal transplant surgery and currently having normal life with functioning graft.
RESUMO
Ureteric stones are usually small and symptomatic. We present a case of a 35-year old female who presented with minimally symptomatic right distal ureteric calculus with proximal hydroureteronephrosis. Laparoscopic right ureterolithotomy was performed and a giant ureteric calculus measuring 11 cm Χ 1.5 cm, weighing 40 g was retrieved.