Case of purine nucleoside phosphorylase deficiency presented with hematuria*

Girit S.

Open Journal of Pediatrics, pp.268-271, 2012 (National Non-Refereed Journal)

  • Publication Type: Article / Case Report
  • Publication Date: 2012
  • Doi Number: 10.4236/ojped.2012.24044
  • Title of Journal : Open Journal of Pediatrics
  • Page Numbers: pp.268-271


Case of purine nucleoside phosphorylase deficiency presented with hematuria

Abstract Full-Text HTML Download Download as PDF (Size:101KB) PP. 268-271
DOI: 10.4236/ojped.2012.24044    3.093 Downloads   5.055 Views   Citations
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Saniye GiritFerah GenelDemet CanMustafa BakMichael Hershfield


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.