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Severe congenital neutropenia caused by ELANE gene mutation: A case report and literature review
The Severe congenital neutropenia (SCN) is a rare genetic disease characterized by a deficiency of mature neutrophils in the bone marrow and peripheral blood disorders. After a BALF ACER examination, the patient was found to have a rareMycobacterium abscess infection. PATIENT CONCERNS: We report a c...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Lippincott Williams & Wilkins
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9646559/ https://www.ncbi.nlm.nih.gov/pubmed/36343040 http://dx.doi.org/10.1097/MD.0000000000031357 |
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author | Wang, Jing Zhang, Haitao Wang, Yu Liang, Lei Yang, Zeyu |
author_facet | Wang, Jing Zhang, Haitao Wang, Yu Liang, Lei Yang, Zeyu |
author_sort | Wang, Jing |
collection | PubMed |
description | The Severe congenital neutropenia (SCN) is a rare genetic disease characterized by a deficiency of mature neutrophils in the bone marrow and peripheral blood disorders. After a BALF ACER examination, the patient was found to have a rareMycobacterium abscess infection. PATIENT CONCERNS: We report a case of SCN withMycobacterium abscess infection caused by ELANE gene mutation. Conventional antiinfection and granulocyte colony-stimulating factor (G-CSF) did not ameliorate patient’s symptoms. The absolute neutrophil count (ANC) most of the time < 0.50 × 109/L. DIAGNOSES: According to Gene sequencing and other tests, the patient was diagnosed with SCN caused by ELANE gene mutation, severe pneumonia, Mycobacteriosis abscess, nutritional iron deficiency anemia, multiple abscesses of the skin, hypergammaglobuloemia, and thrush. INTERVENTIONS: Anti-infection agents, abscess incision and drainage, blood transfusion, G-CSF were treated. OUTCOMES: The fever subsided, the cough disappeared, the anemia improved, and the ANC improved (0.69 × 109/L). Currently, the patient has been followed up in the outpatient clinic for 20months, during which time fever, bone pain, gingivitis and thrush occasionally appeared. The ANC fluctuated between 0.20 and 1.27 × 109/L, suggesting the need for a timely hematopoietic stem cell transplant (HSCT). LESSONS: ELANE gene-related SCN is rare in children, and the possibility of this disease should be considered in children with recurrent severe bacterial infections and a significant reduction in neutrophils in the peripheral blood shortly after birth. In addition to strengthening nursing care and actively preventing and controlling infection, other rare bacterial infections should be considered in clinical practice. |
format | Online Article Text |
id | pubmed-9646559 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Lippincott Williams & Wilkins |
record_format | MEDLINE/PubMed |
spelling | pubmed-96465592022-11-14 Severe congenital neutropenia caused by ELANE gene mutation: A case report and literature review Wang, Jing Zhang, Haitao Wang, Yu Liang, Lei Yang, Zeyu Medicine (Baltimore) 6200 The Severe congenital neutropenia (SCN) is a rare genetic disease characterized by a deficiency of mature neutrophils in the bone marrow and peripheral blood disorders. After a BALF ACER examination, the patient was found to have a rareMycobacterium abscess infection. PATIENT CONCERNS: We report a case of SCN withMycobacterium abscess infection caused by ELANE gene mutation. Conventional antiinfection and granulocyte colony-stimulating factor (G-CSF) did not ameliorate patient’s symptoms. The absolute neutrophil count (ANC) most of the time < 0.50 × 109/L. DIAGNOSES: According to Gene sequencing and other tests, the patient was diagnosed with SCN caused by ELANE gene mutation, severe pneumonia, Mycobacteriosis abscess, nutritional iron deficiency anemia, multiple abscesses of the skin, hypergammaglobuloemia, and thrush. INTERVENTIONS: Anti-infection agents, abscess incision and drainage, blood transfusion, G-CSF were treated. OUTCOMES: The fever subsided, the cough disappeared, the anemia improved, and the ANC improved (0.69 × 109/L). Currently, the patient has been followed up in the outpatient clinic for 20months, during which time fever, bone pain, gingivitis and thrush occasionally appeared. The ANC fluctuated between 0.20 and 1.27 × 109/L, suggesting the need for a timely hematopoietic stem cell transplant (HSCT). LESSONS: ELANE gene-related SCN is rare in children, and the possibility of this disease should be considered in children with recurrent severe bacterial infections and a significant reduction in neutrophils in the peripheral blood shortly after birth. In addition to strengthening nursing care and actively preventing and controlling infection, other rare bacterial infections should be considered in clinical practice. Lippincott Williams & Wilkins 2022-11-04 /pmc/articles/PMC9646559/ /pubmed/36343040 http://dx.doi.org/10.1097/MD.0000000000031357 Text en Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY) (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | 6200 Wang, Jing Zhang, Haitao Wang, Yu Liang, Lei Yang, Zeyu Severe congenital neutropenia caused by ELANE gene mutation: A case report and literature review |
title | Severe congenital neutropenia caused by ELANE gene mutation: A case report and literature review |
title_full | Severe congenital neutropenia caused by ELANE gene mutation: A case report and literature review |
title_fullStr | Severe congenital neutropenia caused by ELANE gene mutation: A case report and literature review |
title_full_unstemmed | Severe congenital neutropenia caused by ELANE gene mutation: A case report and literature review |
title_short | Severe congenital neutropenia caused by ELANE gene mutation: A case report and literature review |
title_sort | severe congenital neutropenia caused by elane gene mutation: a case report and literature review |
topic | 6200 |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9646559/ https://www.ncbi.nlm.nih.gov/pubmed/36343040 http://dx.doi.org/10.1097/MD.0000000000031357 |
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