Neutropenia in Barth syndrome
Autor: | Michael C. Mackey, Ruth Newbury-Ecob, Audrey Anna Bolyard, David C. Dale, Sarah J. Groves, Valerie M. Bowen, Melissa K. Maisenbacher, Birgitta Versluys, Michaela K. Damin, Katherine R. McCurdy, Carolyn T. Taylor, Hulya Ozsahin, Colin G. Steward |
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Rok vydání: | 2019 |
Předmět: |
Male
0301 basic medicine medicine.medical_specialty Neutropenia monocyles Disease Constitutional growth delay Bioinformatics Article Monocytes Leukocyte Count 03 medical and health sciences 0302 clinical medicine Bone Marrow Risk Factors Internal medicine Granulocyte Colony-Stimulating Factor medicine Humans neutropenia Hematology business.industry Macrophages Barth syndrome Dilated cardiomyopathy granulocytes medicine.disease Anti-Bacterial Agents macrophages Granulocyte colony-stimulating factor 030104 developmental biology Motor delay Barth Syndrome granulocyte colony-stimulating factor business Granulocytes 030215 immunology |
Zdroj: | Steward, C G, Groves, S J, Taylor, C T, Maisenbacher, M K, Versluys, B, Newbury-Ecob, R A, Ozsahin, H, Damin, M K, Bowen, V M, McCurdy, K R, Mackey, M C, Bolyard, A A & Dale, D C 2019, ' Neutropenia in Barth syndrome : characteristics, risks, and management ', Current Opinion in Hematology, vol. 26, no. 1, pp. 6-15 . https://doi.org/10.1097/MOH.0000000000000472 Current Opinion in Hematology, 26(1), 6. Lippincott Williams and Wilkins |
ISSN: | 1065-6251 |
Popis: | Purpose of Review: Barth syndrome (BTHS) is an X-linked disease characterized by defective remodeling of phospholipid side chains in mitochondrial membranes. Major features include neutropenia, dilated cardiomyopathy, motor delay and proximal myopathy, feeding problems, and constitutional growth delay. We conducted this review of neutropenia in BTHS to aid in the diagnosis of this disease, and to improve understanding of both the consequences of neutropenia and the benefits of treatment with granulocyte colony-stimulating factor (G-CSF).Recent Findings: In 88 patients with BTHS, neutropenia, that is, at least one count below 1.5 × 10/l, was detected in 74 (84%) and 44% had severe chronic neutropenia, with multiple counts below 0.5 × 10/l. The pattern of neutropenia varied between intermittent and unpredictable, chronic and severe, or cyclical with mathematically regular oscillations. Monocytosis, that is, monocytes more than 1.0 × 10/l, was observed at least once in 64 of 85 (75%) patients. G-CSF was administered to 39 of 88 patients (44%). Weekly average G-CSF doses ranged from 0.12 to 10.92 μg/kg/day (mean 1.16 μg/kg/day, median 1.16 μg/kg/day). Antibiotic prophylaxis was additionally employed in 21 of 26 neutropenic patients. Pretreatment bone marrow evaluations predominantly showed reduced myeloid maturation which normalized on G-CSF therapy in seven of 13 examined. Consistent clinical improvement, with reduced signs and symptoms of infections, was observed in response to prophylactic G-CSF ± prophylactic antibiotics. However, despite G-CSF and antibiotics, one adult patient died with multiple infections related to indwelling medical devices and gastrostomy site infection after 15.5 years on G-CSF and a pediatric patient required gastrostomy removal for recurrent abdominal wall cellulitis.Summary: BTHS should be considered in any men with neutropenia accompanied by any of the characteristic features of this syndrome. Prophylaxis with G-CSF ± antibiotics prevents serious bacterial infections in the more severe neutropenic patients although infections remain a threat even in patients who are very compliant with therapy, especially in those with indwelling devices. |
Databáze: | OpenAIRE |
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