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Revista Médica Electrónica
On-line version ISSN 1684-1824
Abstract
GUTIERREZ DIAZ, Adys et al. Pelger-Hüet anomaly. Apropos of a case. Rev. Med. Electrón. [online]. 2009, vol.31, n.4. ISSN 1684-1824.
The Pelger-Hüet anomaly was described firstly in 1928 by the Holland physician Pelger and its genetic origin was discovered later by the pediatrician Hüet. It is transmitted with a dominant autosomal character and it is a mutation of the gene codifying the plate B receptor. Beginning from this mutation, the alteration of white cells core took place, mainly in neutrophils, with affectations of the nuclear segmentation and chromatin disturbances. We present a patient entering our hospital as a cause of an animal bite, and there were discovered hypolobulated neutrophils in the periferal plate. The familiar character was confirmed with the finding of this alteration in the patient's mother.
Keywords : PELGER-HUET ANOMALY [diagnosis]; PELGER-HUET ANOMALY [blood]; PELGER-HUET ANOMALY [genetics]; HUMANS; CHILD.