Congenital neutropenia

What is it?

La neutropenia congenita è un gruppo eterogeneo di disturbi rari che sono caratterizzati da riduzione del numero di neutrofili circolanti. I granulociti neutrofili sono la principale difesa dell'organismo contro le infezioni batteriche e le infezioni fungine. Pertanto, se la neutropenia è di grave entità, aumenta il rischio di sviluppare infezioni batteriche e fungine anche gravi. Quando è presente una neutropenia, la risposta infiammatoria a queste infezioni risulta inefficace. I pazienti con neutropenia congenita grave hanno un aumentato rischio di sviluppare mielodisplasia o leucemia mieloide acuta.

Which are the symptoms?

Neutropenia should be suspected in patients with frequent, severe, or atypical bacterial and/or fungal infections. Confirmation is by CBC with leukocyte formula. Neutropenia remains asymptomatic until the infection develops. The severity of neutropenia correlates directly with the relative risk of infection. The infections that most frequently occur in patients with profound neutropenia are: cellulitis, furunculosis, pneumonia, and septicemia. Fever is often the sole indication of the infectious state. Typical signs of focal inflammation (erythema, swelling, pain, infiltrates) may be attenuated or absent. Local symptoms (e.g., oral ulcers) may appear, but in most cases they are minimal. The mechanism and cause of neutropenia must be determined. Family history or the presence of other concomitant diseases may help in suspecting a genetic origin.

How is it diagnosed?

Исследование костного мозга необходимо для того, чтобы установить, вызвана ли нейтропения снижением выработки нейтрофилов. Также проводятся дополнительные исследования костного мозга. Все эти исследования помогают сузить поле возможных ответственных генов (например, синдром гипоплазии волосяных хрящей, синдром Чедиака-Хигаши, дискератоз конгенита, гликогеноз типа IB, синдром Швахмана-Даймонда, синдром WHIM, то есть гипогаммаглобулинемия бородавок, инфекции, миелокатексис). Генетический анализ периферической крови проводится с целью выявления точного дефекта, вызывающего нейтропению.

How is it treated?

Most patients with severe congenital neutropenia will respond to chronic growth factor (G-CSF) therapy, but hematopoietic stem cell transplantation may need to be considered for patients with poor response.

Where do we treat it?

Within the San Donato Group, you can find Congenital neutropenia specialists at these departments:

Are you interested in receiving the treatment?

Contact us and we will take care of you.