Case of purine nucleoside phosphorylase deficiency presented with hematuria*


Girit S.

Open Journal of Pediatrics, no.2, ss.268-271, 2012 (Hakemsiz Dergi)

  • Basım Tarihi: 2012
  • Doi Numarası: 10.4236/ojped.2012.24044
  • Dergi Adı: Open Journal of Pediatrics
  • Sayfa Sayısı: ss.268-271

Özet

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

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.