BMJ case reports · 2020
Severe influenza in a paediatric patient with GATA2 deficiency and Emberger syndrome.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Jensen Marie Louise Naestholt, Mathiasen Victor Dahl, Ifversen Marinne, Nielsen Jeppe Sylvest Angaard
Аннотация
A 9-year-old girl was admitted to the paediatric intensive care unit with acute respiratory failure due to influenza. Nine months earlier, she presented with unexplained lymphoedema of the lower extremities and monocytopenia. She had a history of occasional finger warts and onychomycoses. During hospitalisation, the patient was diagnosed with Emberger syndrome caused by GATA2 deficiency. The admission was complicated by thromboses in the right hand, leading to amputation of multiple fingers. From then on, the patient has been in good recovery, the function of her right hand was improving and an allogeneic haematopoietic cell transplantation has now been successfully performed.
Предметные рубрики MeSH
Amputation, SurgicalAnti-Bacterial AgentsAntiviral AgentsChildCodon, NonsenseDNA Mutational AnalysisDrug Therapy, CombinationFemaleFingersGATA2 DeficiencyGATA2 Transcription FactorGangreneGlucocorticoidsHematopoietic Stem Cell TransplantationHumansInfluenza A virusInfluenza, HumanLungRespiration, ArtificialRespiratory Distress SyndromeSeverity of Illness IndexTomography, X-Ray Computed