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: ABCA3 mutations and hydroxychloroquine

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

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

ABCA3 mutations and hydroxychloroquine

Authors

Marie Legendre 1. Sorbonne Université, APHP, U.F. de Génétique moléculaire, Trousseau Hospital, Paris, France 2. Inserm, Sorbonne Université, Maladies génétiques d’expression pédiatrique, UMR_S933, Hôpital Trousseau, Paris, France
Xavier Darde 3. Pulmonology department, Tours university hospital, Tours, France
Marion Ferreira 3. Pulmonology department, Tours university hospital, Tours, France 4. Center for the Study of Respiratory Pathologies, UMR 1100 / EA6305, INSERM, F-37032 Tours, François Rabelais University of Tours, France.
Sandra Chantot-Bastaraud 2. Inserm, Sorbonne Université, Maladies génétiques d’expression pédiatrique, UMR_S933, Hôpital Trousseau, Paris, France 5. Sorbonne Université, APHP, U.F. de Cytogénétique, Trousseau Hospital, Paris, France
Marion Campana 6. Pulmonology department, CHR Orléans, Orléans, France
Laurent Plantier 2. Inserm, Sorbonne Université, Maladies génétiques d’expression pédiatrique, UMR_S933, Hôpital Trousseau, Paris, France 3. Pulmonology department, Tours university hospital, Tours, France
Nadia Nathan 2. Inserm, Sorbonne Université, Maladies génétiques d’expression pédiatrique, UMR_S933, Hôpital Trousseau, Paris, France 7. Pediatric pulmonology department Sorbonne Université, APHP, centre de référence des maladies respiratoires rares RespiRare, Trousseau Hospital, Paris, France
Serge Amselem 1. Sorbonne Université, APHP, U.F. de Génétique moléculaire, Trousseau Hospital, Paris, France 2. Inserm, Sorbonne Université, Maladies génétiques d’expression pédiatrique, UMR_S933, Hôpital Trousseau, Paris, France
Annick Toutain 8. UMR1253, iBrain, University of Tours, INSERM, Tours, France 9. Genetics department, Tours university hospital, Tours, France.
Patrice Diot 3. Pulmonology department, Tours university hospital, Tours, France 4. Center for the Study of Respiratory Pathologies, UMR 1100 / EA6305, INSERM, F-37032 Tours, François Rabelais University of Tours, France.
Sylvain Marchand-Adam 3. Pulmonology department, Tours university hospital, Tours, France 4. Center for the Study of Respiratory Pathologies, UMR 1100 / EA6305, INSERM, F-37032 Tours, François Rabelais University of Tours, France

Keywords:

ILD, ABCA3, hydroxychloroquine

Abstract

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.

Author Biography

Marie Legendre, 1. Sorbonne Université, APHP, U.F. de Génétique moléculaire, Trousseau Hospital, Paris, France 2. Inserm, Sorbonne Université, Maladies génétiques d’expression pédiatrique, UMR_S933, Hôpital Trousseau, Paris, France

1. Sorbonne Université, APHP, U.F. de Génétique moléculaire, Trousseau Hospital, Paris, France

2. Inserm, Sorbonne Université, Maladies génétiques d’expression pédiatrique, UMR_S933, Hôpital Trousseau, Paris, France

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