Foreign body aspiration is commonly encountered in children. In cases that foreign body does not disturb respiratory physiology, clinical and radiological diagnosis may be delayed leading to severe complications. Four...Foreign body aspiration is commonly encountered in children. In cases that foreign body does not disturb respiratory physiology, clinical and radiological diagnosis may be delayed leading to severe complications. Four cases with aspiration of a foreign body not obstructing ventilation and without typical clinical and radiological findings are discussed.展开更多
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
文摘Foreign body aspiration is commonly encountered in children. In cases that foreign body does not disturb respiratory physiology, clinical and radiological diagnosis may be delayed leading to severe complications. Four cases with aspiration of a foreign body not obstructing ventilation and without typical clinical and radiological findings are discussed.
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.
