Successful Kidney Transplantation in a Young Male with Type 2 Xanthinuria

Abstract

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.

Keywords: End-stage renal disease; Renal transplantation; Uric acid; Urolithiasis; Xanthinuria.

Figure 1:

Purine metabolic pathway (downloaded from Medscape). DNA: deoxyribonucleic acid, GTP: guanosine tri-phosphate, RNA: ribonucleic acid, GMP: guanosine monophosphate, IMP: ionosine monophosphate, AMP: adenosine monophosphate, dGTP: deoxyguanosine triphosphate, dATP: deoxy adenosine triphophate, ATP: adenosine triphosphate, PRPP: phosphoribosyl pyrophosphate, HPRT: Hypoxanthine-guanine phosphoribosyltransferase.