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.