Case of purine nucleoside phosphorylase deficiency presented with hematuria  

作　　者：Saniye Girit Ferah Genel Demet Can Mustafa Bak Michael Hershfield 

机构地区：[1]Department of Biochemistry, Division of Rheumatolgy & Immunology, Duke Univesity Medical Center, Durham, USA [2]Department of Pediatric Allergy and Pulmonology, Behcet Uz Pediatric Diseases and Surgery Educational and Research Hospital, [3]Department of Pediatric Immunolgy, Behcet Uz Pediatric Diseases and Surgery Educational and Research Hospital, Izmir, Turkey [4]Department of Pediatrics, Behcet Uz Pediatric Diseases and Surgery Educational and Research Hospital, Izmir, Turkey

出　　处：《Open Journal of Pediatrics》2012年第4期268-271,共4页儿科学期刊（英文）

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.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.

关 键 词：PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Infant HEMATURIA 

分 类 号：R73[医药卫生—肿瘤]