Author(s)

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

Department of Biochemistry, Division of Rheumatolgy & Immunology, Duke Univesity Medical Center, Durham, USA.
Department of Pediatric Allergy and Pulmonology, Behcet Uz Pediatric Diseases and Surgery Educational and Research Hospital,.
Department of Pediatric Immunolgy, Behcet Uz Pediatric Diseases and Surgery Educational and Research Hospital, Izmir, Turkey.
Department of Pediatrics, Behcet Uz Pediatric Diseases and Surgery Educational and Research Hospital, Izmir, Turkey.

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.

Purine Nucleoside Phosphorylase Deficiency; Infant; Hematuria

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.