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Hamada, T., Ichida, K., Hosoyamada, M., Mizuta, E., Yanagihara, K., Sonoyama, K., Sugihara, S., Igawa, O., Hosoya, T., Ohtahara, A., Shigamasa, C., Yamamoto, Y., Ninomiya, H. and Hisatome, I. (2008) Uricosuric action of losartan via the inhibition of urate transporter 1 (URAT1) in hypertensive patients. American Journal of Hypertension, 21, 1157-1219. doi:10.1038/ajh.2008.245

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• TITLE: Case of purine nucleoside phosphorylase deficiency presented with hematuria

  AUTHORS: Saniye Girit, Ferah Genel, Demet Can, Mustafa Bak, Michael Hershfield

  KEYWORDS: Purine Nucleoside Phosphorylase Deficiency; Infant; Hematuria

  JOURNAL NAME: Open Journal of Pediatrics, Vol.2 No.4, December 7, 2012

  ABSTRACT: Purine Nucleoside Phosphorylase (PNP) deficiency is a rare autosomal recessive metabolic disorder. In PNP-deficiency disorder, the deficient enzyme leads to accumulation of toxic metabolites, especially in lymphocytes and the metabolites exert toxic effect on T-cell generation. Purine nucleoside phosphorylase deficiency causes decreased numbers of T cells and lymphopenia. The patients suffering from PNP-deficiency may be admitted with recurrent infections, as well as neurological and autoimmune findings. We hereby presented a case admitted with the symptom of hematuria in which we established the diagnosis of PNP-deficiency early on the basis of detection of lymphopenia and low level of uric acid.