Identification of a Novel EIF2AK Variant and Genetics-Assisted Approach to Diagnosis of Pulmonary Capillary Hemangiomatosis.

Autor: Kimmig LM; Department of Medicine, Section of Pulmonary and Critical Care Medicine, The University of Chicago, Chicago, IL, USA.; Department of Internal Medicine, Universities of Giessen and Marburg Lung Center (UGMLC), Giessen, Germany., Stutz MR; Department of Medicine, Section of Pulmonary and Critical Care Medicine, The University of Chicago, Chicago, IL, USA., Husain AN; Department of Pathology, The University of Chicago, Chicago, IL, USA., Bag R; Department of Medicine, Section of Pulmonary and Critical Care Medicine, The University of Chicago, Chicago, IL, USA. rbag@bsd.uchicago.edu.
Jazyk: angličtina
Zdroj: Lung [Lung] 2022 Apr; Vol. 200 (2), pp. 217-219. Date of Electronic Publication: 2022 Mar 06.
DOI: 10.1007/s00408-022-00517-2
Abstrakt: Pulmonary capillary hemangiomatosis (PCH) is an uncommon type of pulmonary vascular disease characterized by capillary proliferation and very poor prognosis owing to misdiagnosis and lack of effective therapeutic options. Mutations in the eukaryotic translation initiation factor 2α kinase 4 (EIF2AK4) gene have been reported in pulmonary veno-occlusive disease and PCH. In this report, we present a patient whose diagnosis of PCH was delayed by 2 ½ years despite prior surgical lung biopsy and clinical and laboratory findings suggestive of pulmonary hypertension. Genotyping revealed a novel likely pathogenic variant in the EIF2AK4 gene. Review of surgical lung biopsy performed 2 ½ years prior confirmed PCH histology along with constrictive bronchiolitis.
(© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Databáze: MEDLINE
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