Case of purine nucleoside phosphorylase deficiency presented with hematuria

• 作者: Demet Can Ferah Genel Michael Hershfield Mustafa Bak Saniye Girit
• 来源期刊: 儿科学期刊(英文)
• 学科: 医学
• 关键词: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Infant HEMATURIA
• 年，卷（期）: 2012,（4）
• 页码范围: 268-271
• 页数: 4页
• 分类号: R73

摘要

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.