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جلد 10 شماره 1 صفحات 25-27 برگشت به فهرست نسخه ها
Pancytopenia Revealing Phenylketonuria: Coincidence or First Case Report
چکیده:   (122 مشاهده)
Pancytopenia in childhood can be caused by a variety of underlying diseases including hematological and non-hematological entities. Phenylketonuria (PKU) is an inborn error of phenylalanine metabolism. No association between PKU and pancytopenia has ever been reported. We report the first case of PKU revealed by a pancytopenia at presentation. The patient was an infant girl born to healthy non-consanguineous parents with unremarkable family history. A hereditary metabolic disease workup was performed due to the presence of unexplained hematological features and a global developmental delay. Plasma aminoacid profile by thin-layer chromatography showed elevation of phenylalanine and urine organic acid chromatography showed accumulation of metabolites of phenylalanine; whereas, methylmalonic acid or other abnormal organic acids were not found. This is the first case of untreated PKU associated with pancytopenia who improved with low-phenylalanine diet.
متن کامل [DOCX 37 kb]   (131 دریافت)    
: گزارش مورد | موضوع مقاله: Pediatric Hematology & Oncology
دریافت: ۱۳۹۶/۸/۱۹ | پذیرش: ۱۳۹۷/۱/۱۸ | انتشار: ۱۳۹۷/۲/۱۸
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Ben Abdelaziz R, Mellouli F, Lamouchi M T, Ben Messaoud S, Ben Khaled M, Doghri R, et al . Pancytopenia Revealing Phenylketonuria: Coincidence or First Case Report. IJBC. 2018; 10 (1) :25-27
URL: http://ijbc.ir/article-1-771-fa.html

Pancytopenia Revealing Phenylketonuria: Coincidence or First Case Report. مجله خون و سرطان ايران. 1396; 10 (1) :25-27

URL: http://ijbc.ir/article-1-771-fa.html



دوره 10، شماره 1 - ( 12-1396 ) برگشت به فهرست نسخه ها
مجله ی خون و سرطان ایران Iranian Journal of Blood and Cancer
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