Interstitial lung disease in two brothers with novel compound heterozygous ABCA 3 mutations
Identifieur interne : 001205 ( Main/Exploration ); précédent : 001204; suivant : 001206Interstitial lung disease in two brothers with novel compound heterozygous ABCA 3 mutations
Auteurs : Hiroshi Kitazawa [Japon] ; Kunihiko Moriya [Japon] ; Hidetaka Niizuma [Japon] ; Kengo Kawano [Japon] ; Yuka Saito-Nanjo [Japon] ; Toru Uchiyama [Japon] ; Takeshi Rikiishi [Japon] ; Yoji Sasahara [Japon] ; Osamu Sakamoto [Japon] ; Yasuhiro Setoguchi [Japon] ; Shigeo Kure [Japon]Source :
- European Journal of Pediatrics [ 0340-6199 ] ; 2013-07-01.
Descripteurs français
- KwdFr :
- Analyse de séquence d'ADN, Fratrie, Humains, Hydroxychloroquine (usage thérapeutique), Hétérozygote, Issue fatale, Mutation, Mâle, Nourrisson, Phénotype, Pneumopathies interstitielles (génétique), Pneumopathies interstitielles (traitement médicamenteux), Protéines associées au surfactant pulmonaire (génétique), Syndrome de détresse respiratoire du nouveau-né (génétique), Transporteurs ABC (génétique).
- MESH :
- génétique : Pneumopathies interstitielles, Protéines associées au surfactant pulmonaire, Syndrome de détresse respiratoire du nouveau-né, Transporteurs ABC.
- traitement médicamenteux : Pneumopathies interstitielles.
- usage thérapeutique : Hydroxychloroquine.
- Analyse de séquence d'ADN, Fratrie, Humains, Hétérozygote, Issue fatale, Mutation, Mâle, Nourrisson, Phénotype.
English descriptors
- KwdEn :
- ABCA3, ATP-Binding Cassette Transporters (genetics), Fatal Outcome, Heterozygote, Humans, Hydroxychloroquine, Hydroxychloroquine (therapeutic use), Infant, Interstitial lung disease, Lung Diseases, Interstitial (drug therapy), Lung Diseases, Interstitial (genetics), Male, Mutation, Phenotype, Pulmonary Surfactant-Associated Proteins (genetics), Respiratory Distress Syndrome, Newborn (genetics), Sequence Analysis, DNA, Siblings, Surfactant deficiency.
- MESH :
- chemical , genetics : ATP-Binding Cassette Transporters, Pulmonary Surfactant-Associated Proteins.
- chemical , therapeutic use : Hydroxychloroquine.
- drug therapy : Lung Diseases, Interstitial.
- genetics : Lung Diseases, Interstitial, Respiratory Distress Syndrome, Newborn.
- Fatal Outcome, Heterozygote, Humans, Infant, Male, Mutation, Phenotype, Sequence Analysis, DNA, Siblings.
Abstract
Abstract: Mutations in genes critical for surfactant metabolism, including surfactant protein C (SP-C) and ABCA3, are well-recognized causes of interstitial lung disease. Recessive mutations in ABCA3 were first attributed to fatal respiratory failure in full-term neonates, but they are also increasingly being recognized as a cause of respiratory disorders with less severe phenotypes in older children and also adults. Here, we report a 20-month-old boy with interstitial lung disease caused by two distinct ABCA3 mutations. Initial treatment with methylprednisolone was unsuccessful, but the additional administration of hydroxychloroquine was effective. The family history revealed that the patient’s older brother had died of idiopathic interstitial lung disease at 6 months of age, suggesting a genetic etiology of the disease. Sequence analyses of SP-C and ABCA3 genes were performed using DNA samples from the patient himself, his parents, and his brother. These analyses revealed novel compound heterozygous mutations in the coding exons of ABCA3 in both the patient and his brother: c.2741A > G, of paternal origin, and c.3715_3716insGGGGGG, of maternal origin. Conclusion Since ABCA3 mutations seem to be a heterogeneous entity with various phenotypes, we recommend genetic testing for mutations in SP-C and ABCA3 genes to be considered in children with unexplained interstitial lung disease.
Url:
DOI: 10.1007/s00431-013-1977-8
Affiliations:
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last="Kawano">Kengo Kawano</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-cho, 980-8574, Sendai, Aoba-ku</wicri:regionArea><wicri:noRegion>Aoba-ku</wicri:noRegion></affiliation></author><author><name sortKey="Saito Nanjo, Yuka" sort="Saito Nanjo, Yuka" uniqKey="Saito Nanjo Y" first="Yuka" last="Saito-Nanjo">Yuka Saito-Nanjo</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-cho, 980-8574, Sendai, Aoba-ku</wicri:regionArea><wicri:noRegion>Aoba-ku</wicri:noRegion></affiliation></author><author><name sortKey="Uchiyama, Toru" sort="Uchiyama, Toru" uniqKey="Uchiyama T" first="Toru" last="Uchiyama">Toru Uchiyama</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-cho, 980-8574, Sendai, Aoba-ku</wicri:regionArea><wicri:noRegion>Aoba-ku</wicri:noRegion></affiliation></author><author><name sortKey="Rikiishi, Takeshi" sort="Rikiishi, Takeshi" uniqKey="Rikiishi T" first="Takeshi" last="Rikiishi">Takeshi Rikiishi</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-cho, 980-8574, Sendai, Aoba-ku</wicri:regionArea><wicri:noRegion>Aoba-ku</wicri:noRegion></affiliation></author><author><name sortKey="Sasahara, Yoji" sort="Sasahara, Yoji" uniqKey="Sasahara Y" first="Yoji" last="Sasahara">Yoji Sasahara</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-cho, 980-8574, Sendai, Aoba-ku</wicri:regionArea><wicri:noRegion>Aoba-ku</wicri:noRegion></affiliation></author><author><name sortKey="Sakamoto, Osamu" sort="Sakamoto, Osamu" uniqKey="Sakamoto O" first="Osamu" last="Sakamoto">Osamu Sakamoto</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-cho, 980-8574, Sendai, Aoba-ku</wicri:regionArea><wicri:noRegion>Aoba-ku</wicri:noRegion></affiliation></author><author><name sortKey="Setoguchi, Yasuhiro" sort="Setoguchi, Yasuhiro" uniqKey="Setoguchi Y" first="Yasuhiro" last="Setoguchi">Yasuhiro Setoguchi</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Respiratory Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, 160-0023, Tokyo, Shinjyuku-ku</wicri:regionArea><wicri:noRegion>Shinjyuku-ku</wicri:noRegion></affiliation></author><author><name sortKey="Kure, Shigeo" sort="Kure, Shigeo" uniqKey="Kure S" first="Shigeo" last="Kure">Shigeo Kure</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-cho, 980-8574, Sendai, Aoba-ku</wicri:regionArea><wicri:noRegion>Aoba-ku</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">European Journal of Pediatrics</title><title level="j" type="abbrev">Eur J Pediatr</title><idno type="ISSN">0340-6199</idno><idno type="eISSN">1432-1076</idno><imprint><publisher>Springer Berlin Heidelberg</publisher><pubPlace>Berlin/Heidelberg</pubPlace><date type="published" when="2013-07-01">2013-07-01</date><biblScope unit="volume">172</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="953">953</biblScope><biblScope unit="page" to="957">957</biblScope></imprint><idno type="ISSN">0340-6199</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0340-6199</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>ABCA3</term><term>ATP-Binding Cassette Transporters (genetics)</term><term>Fatal Outcome</term><term>Heterozygote</term><term>Humans</term><term>Hydroxychloroquine</term><term>Hydroxychloroquine (therapeutic use)</term><term>Infant</term><term>Interstitial lung disease</term><term>Lung Diseases, Interstitial (drug therapy)</term><term>Lung Diseases, Interstitial (genetics)</term><term>Male</term><term>Mutation</term><term>Phenotype</term><term>Pulmonary Surfactant-Associated Proteins (genetics)</term><term>Respiratory Distress Syndrome, Newborn (genetics)</term><term>Sequence Analysis, DNA</term><term>Siblings</term><term>Surfactant deficiency</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Analyse de séquence d'ADN</term><term>Fratrie</term><term>Humains</term><term>Hydroxychloroquine (usage thérapeutique)</term><term>Hétérozygote</term><term>Issue fatale</term><term>Mutation</term><term>Mâle</term><term>Nourrisson</term><term>Phénotype</term><term>Pneumopathies interstitielles (génétique)</term><term>Pneumopathies interstitielles (traitement médicamenteux)</term><term>Protéines associées au surfactant pulmonaire (génétique)</term><term>Syndrome de détresse respiratoire du nouveau-né (génétique)</term><term>Transporteurs ABC (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>ATP-Binding Cassette Transporters</term><term>Pulmonary Surfactant-Associated Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Hydroxychloroquine</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Lung Diseases, Interstitial</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lung Diseases, Interstitial</term><term>Respiratory Distress Syndrome, Newborn</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Pneumopathies interstitielles</term><term>Protéines associées au surfactant pulmonaire</term><term>Syndrome de détresse respiratoire du nouveau-né</term><term>Transporteurs ABC</term></keywords><keywords scheme="MESH" qualifier="traitement médicamenteux" xml:lang="fr"><term>Pneumopathies interstitielles</term></keywords><keywords scheme="MESH" qualifier="usage thérapeutique" xml:lang="fr"><term>Hydroxychloroquine</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Fatal Outcome</term><term>Heterozygote</term><term>Humans</term><term>Infant</term><term>Male</term><term>Mutation</term><term>Phenotype</term><term>Sequence Analysis, DNA</term><term>Siblings</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Analyse de séquence d'ADN</term><term>Fratrie</term><term>Humains</term><term>Hétérozygote</term><term>Issue fatale</term><term>Mutation</term><term>Mâle</term><term>Nourrisson</term><term>Phénotype</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Abstract: Mutations in genes critical for surfactant metabolism, including surfactant protein C (SP-C) and ABCA3, are well-recognized causes of interstitial lung disease. Recessive mutations in ABCA3 were first attributed to fatal respiratory failure in full-term neonates, but they are also increasingly being recognized as a cause of respiratory disorders with less severe phenotypes in older children and also adults. Here, we report a 20-month-old boy with interstitial lung disease caused by two distinct ABCA3 mutations. Initial treatment with methylprednisolone was unsuccessful, but the additional administration of hydroxychloroquine was effective. The family history revealed that the patient’s older brother had died of idiopathic interstitial lung disease at 6 months of age, suggesting a genetic etiology of the disease. Sequence analyses of SP-C and ABCA3 genes were performed using DNA samples from the patient himself, his parents, and his brother. These analyses revealed novel compound heterozygous mutations in the coding exons of ABCA3 in both the patient and his brother: c.2741A > G, of paternal origin, and c.3715_3716insGGGGGG, of maternal origin. Conclusion Since ABCA3 mutations seem to be a heterogeneous entity with various phenotypes, we recommend genetic testing for mutations in SP-C and ABCA3 genes to be considered in children with unexplained interstitial lung disease.</div></front></TEI><affiliations><list><country><li>Japon</li></country></list><tree><country name="Japon"><noRegion><name sortKey="Kitazawa, Hiroshi" sort="Kitazawa, Hiroshi" uniqKey="Kitazawa H" first="Hiroshi" last="Kitazawa">Hiroshi Kitazawa</name></noRegion><name sortKey="Kawano, Kengo" sort="Kawano, Kengo" uniqKey="Kawano K" first="Kengo" last="Kawano">Kengo Kawano</name><name sortKey="Kitazawa, Hiroshi" sort="Kitazawa, Hiroshi" uniqKey="Kitazawa H" first="Hiroshi" last="Kitazawa">Hiroshi Kitazawa</name><name sortKey="Kure, Shigeo" sort="Kure, Shigeo" uniqKey="Kure S" first="Shigeo" last="Kure">Shigeo Kure</name><name sortKey="Moriya, Kunihiko" sort="Moriya, Kunihiko" uniqKey="Moriya K" first="Kunihiko" last="Moriya">Kunihiko Moriya</name><name sortKey="Niizuma, Hidetaka" sort="Niizuma, Hidetaka" uniqKey="Niizuma H" first="Hidetaka" last="Niizuma">Hidetaka Niizuma</name><name sortKey="Rikiishi, Takeshi" sort="Rikiishi, Takeshi" uniqKey="Rikiishi T" first="Takeshi" last="Rikiishi">Takeshi Rikiishi</name><name sortKey="Saito Nanjo, Yuka" sort="Saito Nanjo, Yuka" uniqKey="Saito Nanjo Y" first="Yuka" last="Saito-Nanjo">Yuka Saito-Nanjo</name><name sortKey="Sakamoto, Osamu" sort="Sakamoto, Osamu" uniqKey="Sakamoto O" first="Osamu" last="Sakamoto">Osamu Sakamoto</name><name sortKey="Sasahara, Yoji" sort="Sasahara, Yoji" uniqKey="Sasahara Y" first="Yoji" last="Sasahara">Yoji Sasahara</name><name sortKey="Setoguchi, Yasuhiro" sort="Setoguchi, Yasuhiro" uniqKey="Setoguchi Y" first="Yasuhiro" last="Setoguchi">Yasuhiro Setoguchi</name><name sortKey="Uchiyama, Toru" sort="Uchiyama, Toru" uniqKey="Uchiyama T" first="Toru" last="Uchiyama">Toru Uchiyama</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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