Case of purine nucleoside phosphorylase deficiency presented with hematuria


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.

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Girit, S. , Genel, F. , Can, D. , Bak, M. and Hershfield, M. (2012) Case of purine nucleoside phosphorylase deficiency presented with hematuria. Open Journal of Pediatrics, 2, 268-271. doi: 10.4236/ojped.2012.24044.

Conflicts of Interest

The authors declare no conflicts of interest.


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