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...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.展开更多
Asthma in school-aged children is a major public health problem worldwide[1,2].Inhaled medications are the mainstay of its pharmacological management[2],but only 8%-22%of children with asthma use their inhalers correc...Asthma in school-aged children is a major public health problem worldwide[1,2].Inhaled medications are the mainstay of its pharmacological management[2],but only 8%-22%of children with asthma use their inhalers correctly[3].Asthma clinical outcomes are poor in children[4],largely due to inhaler technique[5,6].展开更多
文摘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.
基金Financial support for this study was provided through Grants by the Instituto de Salud Carlos III FEDER:Fondo Europeo de Desarrollo Regional(PI15/00449)Generalitat de Catalunya(AGAUR 2021 SGR 00624,2017 SGR 452)+2 种基金The following researchers have worked on this manuscript while funded by Grants:CLB(University of Costa Rica OAICE-85-2019)KM(Instituto de Salud Carlos III FEDER:Fondo Europeo de Desarrollo Regional FI16/00071)ALD(Miguel Servet research contract from the Instituto de Salud Carlos III CP21/00062).
文摘Asthma in school-aged children is a major public health problem worldwide[1,2].Inhaled medications are the mainstay of its pharmacological management[2],but only 8%-22%of children with asthma use their inhalers correctly[3].Asthma clinical outcomes are poor in children[4],largely due to inhaler technique[5,6].
