Severe chronic neutropenia is classified as severe congenital, cyclic, autoimmune, or idiopathic. However, there is a lot of uncertainty regarding the diagnosis of severe congenital neutropenia (SCN) and chronic idiopathic neutropenia, and this uncertainty affects further evaluations and treatments. A 20-year-old man presented with fever and knee abrasions after a bicycle accident. On admission, his initial absolute neutrophil count (ANC) was 30/µL. He had no medical history of persistent severe neutropenia with periodic oscillation of ANC. Although his fever resolved after appropriate antibiotic therapy, ANC remained at 80/µL. Bone marrow (BM) aspiration and biopsy were performed, and a BM smear showed myeloid maturation arrest. Moreover, genetic mutation test results showed a heterozygous missense variant in exon 4 of the neutrophil elastase ELANE: c597+1G>C (pV190-F199del). The patient was diagnosed with SCN. After discharge, we routinely checked his ANC level and monitored any signs of infection with minimum use of granulocyte colony-stimulating factor (G-CSF), considering its potential risk of leukemic transformation. Considering that SCN can be fatal, timely diagnosis and appropriate management with G-CSF are essential. We report the case of a patient with SCN caused by ELANE mutation who had atypical clinical manifestations. For a more accurate diagnosis and treatment of severe chronic neutropenia, further studies are needed to elucidate the various clinical features of ELANE.
Citations
Citations to this article as recorded by
ПЕРВИННІ МІНОРНІ ІМУНОДЕФІЦИТИ ЯК ПРИЧИНА РОЗВИТКУ ІМУНОЗАЛЕЖНОЇ ПАТОЛОГІЇ У ЛЮДЕЙ: ЕТІОЛОГІЯ, ЕПІДЕМІОЛОГІЯ, КЛАСИФІКАЦІЯ, ДІАГНОСТИКА І ЛІКУВАННЯ (СИСТЕМАТИЧНИЙ ОГЛЯД) Dmytro Maltsev Immunology and Allergology: Science and Practice.2024; (3-4): 37. CrossRef
BACKGROUND Neutropenic fever is one of the most common and potentially severe complications of chemotherapy in pediatric oncology patients, while urinary tract infection (UTI) is one of the most prevalent bacterial infections in these patients. Therefore, this study was conducted to investigate features of UTI with neutropenic fever in pediatric oncology patients. METHODS: We retrospectively reviewed and analyzed the medical records, laboratory results and image findings of cases of neutropenic fever in the Department of Pediatrics of Yeungnam University Medical Center, South Korea between November 2013 and May 2015. Episodes were divided into two groups, UTI vs. non-UTI group according to the results of urine culture. The results were then compared between groups. The analysis was performed using IBM SPSS 23.0. A p-value <0.05 was considered to indicate a significant difference between groups. RESULTS: Overall, 112 episodes of neutropenic fever were analyzed, among which 22 episodes (19.6%) showed organisms on urine culture and were classified as UTI. The remaining 90 episodes were classified as non-UTI. Only four episodes (18.2%) of the UTI group showed pyuria on urine analysis. In the UTI group, 76.5% were sensitive to the first line antibiotics and showed higher clinical response than the non-UTI group. Among hematologic malignancy patients, the UTI group revealed higher serum β 2-microglobulin levels than the non-UTI group (1.56±0.43 mg/L vs. 1.2±0.43 mg/L, p<0.028). CONCLUSION: UTI in pediatric neutropenic fever responds well to antibiotics. Hematologic malignancy cases with UTI reveal increased serum β2-microglobulin level. These results will be helpful to early phase diagnosis of UTI.
Colchicine is an alkaloid that has been used for treating acute gouty arthritis, psoriasis, scleroderma and Behcet's syndrome. Colchicine decreased liver fibrosis in rats with carbon tetrachloride induced cirrhosis and in patients with many liver diseases. Therapeutic oral doses of colchicine may cause nausea, vomiting, abdominal pain and diarrhea. The adverse effect of colchicine associated with the dose is bone marrow suppression, and especially neutopenia. Neutropenia has often been reported in patients have taken an overdose of colchicine. We describe a 64-year-old female liver cirrhosis patient with neutropenia that was induced by a therapeutic dose of colchicine.