دورية أكاديمية
Successful lung transplantation in genetic methionyl-tRNA synthetase-related alveolar proteinosis/lung fibrosis without recurrence under methionine supplementation: Medium-term outcome in 4 cases.
| العنوان: | Successful lung transplantation in genetic methionyl-tRNA synthetase-related alveolar proteinosis/lung fibrosis without recurrence under methionine supplementation: Medium-term outcome in 4 cases. |
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| المؤلفون: | Roy C; Service de Pneumologie et Transplantation Pulmonaire, Hôpital Foch, Suresnes, France; Service de Pneumologie pédiatrique, Hôpital Necker, Paris, France., Allou N; Service de Pneumologie, Hôpital CHU Felix Guyon, La Réunion., Coulomb A; Service d'Anatomopathologie, Hôpital Armand Trousseau, Paris, France., Grenet D; Service de Pneumologie et Transplantation Pulmonaire, Hôpital Foch, Suresnes, France., Borie R; Service de Pneumologie, Hôpital Bichat, Paris, France., Zuber B; Service de Réanimation, Hôpital Foch, Paris, France., Hamid A; Service de Pneumologie et Transplantation Pulmonaire, Hôpital Foch, Suresnes, France; Collège de Médecine des hôpitaux de Paris (CMHP)., Glorion M; Service de Chirurgie Thoracique, Hôpital Foch, Suresnes, France., Brun AL; Service de Radiologie, Hôpital Foch, Suresnes, France., Longchamps E; Service d'Anatomopathologie, Hôpital Foch, Suresnes, France., Hadchouel A; Service de Pneumologie pédiatrique, Hôpital Necker, Paris, France., Brugiere O; Service de Pneumologie et Transplantation Pulmonaire, Hôpital Foch, Suresnes, France; CEA/DRF/Institut de Biologie François Jacob/Service de Recherches en Hémato-Immunologie Hôpital St-Louis, Paris, France. Electronic address: o.brugiere@hopital-foch.com. |
| المصدر: | American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons [Am J Transplant] 2024 Jul; Vol. 24 (7), pp. 1317-1322. Date of Electronic Publication: 2024 Mar 08. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: United States NLM ID: 100968638 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-6143 (Electronic) Linking ISSN: 16006135 NLM ISO Abbreviation: Am J Transplant Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2023- : [New York] : Elsevier Original Publication: Copenhagen : Munksgaard International Publishers, 2001- |
| مواضيع طبية MeSH: | Lung Transplantation*/adverse effects , Pulmonary Alveolar Proteinosis*/genetics , Pulmonary Alveolar Proteinosis*/therapy , Pulmonary Alveolar Proteinosis*/etiology , Methionine* , Methionine-tRNA Ligase*/genetics , Pulmonary Fibrosis*/surgery, Humans ; Female ; Male ; Recurrence ; Prognosis ; Child ; Adult ; Adolescent ; Follow-Up Studies |
| مستخلص: | Pulmonary alveolar proteinosis (PAP) results from the accumulation of lipoproteinaceous material in the alveoli and alveolar macrophages, and can be associated with pulmonary fibrosis, with a need for lung transplantation (LTx). Causes of PAP are autoimmune (90%-95%), secondary (5%), or hereditary (<1%). Patients with hereditary PAP are generally not considered for isolated LTx, due to the high probability of recurrence after LTx, and only a challenging scenario with sequential LTx followed by hematopoietic stem cell transplantation (HSCT) was reported as successful. Recently, a new genetic cause of PAP linked to mutations in the methionyl-tRNA synthetase (MARS) gene has been reported, with a highly variable clinical presentation. Because clinical correction of the defective MARS activity with methionine supplementation has been reported in nontransplanted children, we reassessed the feasibility of LTx for candidates with MARS-related PAP/fibrosis. We report 3 cases of LTx performed for MARS-related pulmonary alveolar proteinosis-pulmonary fibrosis without recurrence under methionine supplementation, whereas another fourth case transplanted without supplementation had fatal PAP recurrence. These results suggest the effectiveness of methionine in correcting defective MARS activity and also looking for this very rare diagnosis in case of unclassified PAP/fibrosis. It argues for not excluding the feasibility of isolated LTx in patients with MARS mutation. Competing Interests: Declaration of competing interest The authors of this manuscript have no conflicts of interest to disclose as described by the American Journal of Transplantation. (Copyright © 2024 American Society of Transplantation & American Society of Transplant Surgeons. Published by Elsevier Inc. All rights reserved.) |
| فهرسة مساهمة: | Keywords: genetic mutation; lung transplantation; methionine supplementation; methionyl-tRNA synthetase (MARS) gene; pulmonary alveolar proteinosis |
| المشرفين على المادة: | AE28F7PNPL (Methionine) EC 6.1.1.10 (Methionine-tRNA Ligase) |
| تواريخ الأحداث: | Date Created: 20240310 Date Completed: 20240717 Latest Revision: 20240816 |
| رمز التحديث: | 20240816 |
| DOI: | 10.1016/j.ajt.2024.03.003 |
| PMID: | 38461880 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1600-6143 |
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| DOI: | 10.1016/j.ajt.2024.03.003 |