Marie Legendre, Xavier Darde, Marion Ferreira, Sandra Chantot-Bastaraud, Marion Campana, Laurent Plantier, Nadia Nathan, Serge Amselem, Annick Toutain, Patrice Diot, Sylvain Marchand-Adam
{"title":"羟氯喹治疗下ABCA3纯合复合体等位基因成人间质性肺病的临床病程及文献综述","authors":"Marie Legendre, Xavier Darde, Marion Ferreira, Sandra Chantot-Bastaraud, Marion Campana, Laurent Plantier, Nadia Nathan, Serge Amselem, Annick Toutain, Patrice Diot, Sylvain Marchand-Adam","doi":"10.36141/svdld.v39i2.12730","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>The gene mutations responsible for ABCA3 protein deficiency are involved in respiratory distress of the newborn and much more rarely in adult interstitial lung diseases (ILD). An adult patient homozygous for a complex allele encompassing the p.Ala1027Pro likely pathogenic mutation and the p.Gly974Asp variation was followed for a late-onset and fibrotic ILD. The evolution was marked by progressive clinical and functional degradation despite corticosteroid pulses. The patient, who was first registered on the list for lung transplantation, was improved quickly and persistently for at least 6.5 years with hydroxychloroquine treatment, allowing removal from the transplant list.</p>","PeriodicalId":21394,"journal":{"name":"Sarcoidosis, Vasculitis, and Diffuse Lung Diseases","volume":null,"pages":null},"PeriodicalIF":1.4000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9437752/pdf/SVDLD-39-019.pdf","citationCount":"1","resultStr":"{\"title\":\"The clinical course of interstitial lung disease in an adult patient with an ABCA3 homozygous complex allele under hydroxychloroquine and a review of the literature.\",\"authors\":\"Marie Legendre, Xavier Darde, Marion Ferreira, Sandra Chantot-Bastaraud, Marion Campana, Laurent Plantier, Nadia Nathan, Serge Amselem, Annick Toutain, Patrice Diot, Sylvain Marchand-Adam\",\"doi\":\"10.36141/svdld.v39i2.12730\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>The gene mutations responsible for ABCA3 protein deficiency are involved in respiratory distress of the newborn and much more rarely in adult interstitial lung diseases (ILD). An adult patient homozygous for a complex allele encompassing the p.Ala1027Pro likely pathogenic mutation and the p.Gly974Asp variation was followed for a late-onset and fibrotic ILD. The evolution was marked by progressive clinical and functional degradation despite corticosteroid pulses. The patient, who was first registered on the list for lung transplantation, was improved quickly and persistently for at least 6.5 years with hydroxychloroquine treatment, allowing removal from the transplant list.</p>\",\"PeriodicalId\":21394,\"journal\":{\"name\":\"Sarcoidosis, Vasculitis, and Diffuse Lung Diseases\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.4000,\"publicationDate\":\"2022-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9437752/pdf/SVDLD-39-019.pdf\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Sarcoidosis, Vasculitis, and Diffuse Lung Diseases\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.36141/svdld.v39i2.12730\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/6/29 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"RESPIRATORY SYSTEM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Sarcoidosis, Vasculitis, and Diffuse Lung Diseases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.36141/svdld.v39i2.12730","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/6/29 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"RESPIRATORY SYSTEM","Score":null,"Total":0}
The clinical course of interstitial lung disease in an adult patient with an ABCA3 homozygous complex allele under hydroxychloroquine and a review of the literature.
Objective: The gene mutations responsible for ABCA3 protein deficiency are involved in respiratory distress of the newborn and much more rarely in adult interstitial lung diseases (ILD). An adult patient homozygous for a complex allele encompassing the p.Ala1027Pro likely pathogenic mutation and the p.Gly974Asp variation was followed for a late-onset and fibrotic ILD. The evolution was marked by progressive clinical and functional degradation despite corticosteroid pulses. The patient, who was first registered on the list for lung transplantation, was improved quickly and persistently for at least 6.5 years with hydroxychloroquine treatment, allowing removal from the transplant list.
期刊介绍:
Sarcoidosis Vasculitis and Diffuse Lung Disease is a quarterly journal founded in 1984 by G. Rizzato. Now directed by R. Baughman (Cincinnati), P. Rottoli (Siena) and S. Tomassetti (Forlì), is the oldest and most prestigious Italian journal in such field.