Myeloperoxidase部分欠損症の1新生児例

Abstract

We encountered an infant with partial myeloperoxidase deficiency detected with an automatic peripheral blood analyzer, Technicon H series. A male neonate was admitted to our Neonatal Intensive Care Unit due to respiratory disturbance and low birth weight. An automatic peripheral blood analyzer, Technicon H, showed partial myeloperoxidase deficiency, and blood findings were abnormal. However, there were no apparent infectious diseases during hospitalization. Genomic analyses of the MPO coding region of the patient and his family showed normal expression of MPO mRNA, and there was no mutation of MPO cDNA detected by the direct sequence analysis. It was determined that MPO mRNA of the patient and family members were transcribed normally. These findings suggest that manifestation of partial MPO deficiency in this patient was caused by some mechanisms other than the mutation of the MPO coding region.