Niemowlę z wrodzoną neutropenią – opis przypadku

Karol Szymanowski¹, *Milena Noskiewicz¹, Justyna Grzybek¹, Miłosz Jazdon²

Summary
The reported case presents a 4-months-old girl diagnosed with severe congenital neutropenia (SCN) caused by mutation in ELANE (Elastase, Neutrophil Expressed) gene. The very first signs of the disease could be found in blood count taken in the neonatal ward. Later on, decreased absolute neutrophil count (ANC) was consistent in every taken blood count. The patient has been admitted to our paediatric ward due to increased inflammatory markers, such as C-reactive protein (CRP), skin inflammation and abscess of the gluteal area. These symptoms are one of the indicators of primary immune deficiency. In the following case report the cause of the neutropenia has been found using whole exome sequencing (WES) in ELANE gene mutation, which accounts for the majority of gene-related causes of neutropenia. One of most popular treatment options is a leukocyte growth factor, a recombinant form of the naturally occurring granulocyte colony-stimulating factor (G-CSF). In some cases, bone marrow transplant is needed to treat severe congenital neutropenia.

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