Characteristics of disorders associated with genetic mutations of surfactant protein C
Identifieur interne : 001537 ( Istex/Curation ); précédent : 001536; suivant : 001538Characteristics of disorders associated with genetic mutations of surfactant protein C
Auteurs : Guillaume Thouvenin [France] ; Rola Abou Taam [France] ; Florence Flamein [France] ; Loïc Guillot [France] ; Muriel Le Bourgeois [France] ; Philippe Reix [France] ; Mickael Fayon [France] ; François Counil [France] ; Ulrika Depontbriand [France] ; Delphine Feldmann [France] ; Hubert Ducou-Le Pointe [France] ; Jacques De Blic [France] ; Annick Clement [France] ; Ralph Epaud [France]Source :
- Archives of Disease in Childhood [ 0003-9888 ] ; 2010-06.
English descriptors
- Teeft :
- Acute bronchiolitis, Adenomatoid malformation, Alveolar type, Armand trousseau, Azithromycin, Balf, Balf analysis, Biol, Brichos, Brichos domain, Brichos domain group, Bril formation, Bronchoalveolar, Bronchoalveolar lavage, Centre hospitalier universitaire, Clinical presentation, Common mutation, Constant ndings, Control scan, Different treatments, Diffuse lung disease, Domain, Domain brichos domain, Domain group, Enteral nutrition, Exercise intolerance, Gastrointestinal symptoms, General anaesthesia, Genetic mutations, Hrct, Hrct scan, Hydroxychloroquine, Interstitial lung disease, Lung biopsy, Lung disease, Lung disorders, Lung surfactant protein, Methylprednisolone, Methylprednisolone pulse, Mutation, Mutation status, Ndings, Neutrophil percentage, Nogee, Nonbrichos domain, Nutritional support, Oral steroids, Oxygen saturation, Patients patients, Physical examination, Physiol, Physiol lung cell, Present study, Radiological features, Recombinant antihuman, Respir, Respir cell, Respir crit care, Respiratory distress, Respiratory symptoms, Sftpc, Sftpc disorders, Sftpc mutation, Sftpc mutations, Sporadic cases, Steroid, Supplemental oxygen, Surfactant, Surfactant homeostasis, Surfactant protein, Surfactant proteins, Symptom onset, Tachypnoea, Treatment modalities, Viral infection, Viral infection prophylaxis, Western blot analysis.
Abstract
Study objectives To present diagnosis and treatment modalities of children with interstitial lung disease associated with frequent or rare surfactant protein C gene (SFTPC) mutation. Patients Twenty-two children with chronic lung disease associated with SFTPC mutation in a heterozygous form. Results Mutations located in the BRICHOS domain (‘BRICHOS domain’ group) were identified in six children, whereas 16 children carried mutations located outside the BRICHOS domain (‘non-BRICHOS domain’ group). The median age of onset was 3 (0–24) months. Four patients had neonatal respiratory distress, and symptom onset was associated with acute bronchiolitis in nine patients. Cough, tachypnoea and failure to thrive were initially noticed in all the children. Physical examination at presentation revealed tachypnoea (n=22), clubbing (n=1) and crackles (n=5). Low oxygen saturation (<95%) was observed in 18 patients. The predominant findings on initial high-resolution CT (HRCT) scans were basal-predominant ground-glass opacity (n=21) and cystic spaces (n=3). Bronchoalveolar lavage fluid (BALF) cell counts showed 379±56×103 cells/ml with increased neutrophil percentage (18±4%) independent of the mutation status. The median follow-up was 3.2 (1–18.3) years. Eighteen patients were treated by monthly methylprednisolone pulses associated with oral prednisolone (n=16), hydroxychloroquine (n=11) and/or azithromycin (n=4). Fifteen patients benefited from enteral nutrition. Conclusion Initial diagnosis is based on clinical presentation, radiological features and BALF analysis, but the definitive diagnosis requires genetic analysis. Although progressive improvement was seen in most patients, the development of new therapeutic strategies with minimal side effects is needed.
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DOI: 10.1136/adc.2009.171553
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U938, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR_S U938, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>UPMC Université Paris 06, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UPMC Université Paris 06, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Taam, Rola Abou" sort="Taam, Rola Abou" uniqKey="Taam R" first="Rola Abou" last="Taam">Rola Abou Taam</name><affiliation wicri:level="1"><mods:affiliation>Université Paris Descartes, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Flamein, Florence" sort="Flamein, Florence" uniqKey="Flamein F" first="Florence" last="Flamein">Florence Flamein</name><affiliation wicri:level="1"><mods:affiliation>INSERM UMR_S U938, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR_S U938, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>UPMC Université Paris 06, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UPMC Université Paris 06, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Guillot, Loic" sort="Guillot, Loic" uniqKey="Guillot L" first="Loïc" last="Guillot">Loïc Guillot</name><affiliation wicri:level="1"><mods:affiliation>INSERM UMR_S U938, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR_S U938, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>UPMC Université Paris 06, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UPMC Université Paris 06, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Le Bourgeois, Muriel" sort="Le Bourgeois, Muriel" uniqKey="Le Bourgeois M" first="Muriel" last="Le Bourgeois">Muriel Le Bourgeois</name><affiliation wicri:level="1"><mods:affiliation>Université Paris Descartes, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Reix, Philippe" sort="Reix, Philippe" uniqKey="Reix P" first="Philippe" last="Reix">Philippe Reix</name><affiliation wicri:level="1"><mods:affiliation>Pediatric Pneumology—Allergology Department, Groupement Hospitalier Est, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Pediatric Pneumology—Allergology Department, Groupement Hospitalier Est, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Fayon, Mickael" sort="Fayon, Mickael" uniqKey="Fayon M" first="Mickael" last="Fayon">Mickael Fayon</name><affiliation wicri:level="1"><mods:affiliation>Pediatric Department, Hopital Pellegrin—Enfants, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Pediatric Department, Hopital Pellegrin—Enfants, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Counil, Francois" sort="Counil, Francois" uniqKey="Counil F" first="François" last="Counil">François Counil</name><affiliation wicri:level="1"><mods:affiliation>Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire de Montpellier, Montpellier, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire de Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Depontbriand, Ulrika" sort="Depontbriand, Ulrika" uniqKey="Depontbriand U" first="Ulrika" last="Depontbriand">Ulrika Depontbriand</name><affiliation wicri:level="1"><mods:affiliation>Hôpital mere–enfant, Centre Hospitalier Universitaire de Nantes, Nantes, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital mere–enfant, Centre Hospitalier Universitaire de Nantes, Nantes</wicri:regionArea></affiliation></author><author><name sortKey="Feldmann, Delphine" sort="Feldmann, Delphine" uniqKey="Feldmann D" first="Delphine" last="Feldmann">Delphine Feldmann</name><affiliation wicri:level="1"><mods:affiliation>AP-HP, Biochemistry Department, Hôpital Armand Trousseau, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Biochemistry Department, Hôpital Armand Trousseau, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Pointe, Hubert Ducou Le" sort="Pointe, Hubert Ducou Le" uniqKey="Pointe H" first="Hubert Ducou-Le" last="Pointe">Hubert Ducou-Le Pointe</name><affiliation wicri:level="1"><mods:affiliation>AP-HP, Radiology Department, Hôpital Armand Trousseau, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Radiology Department, Hôpital Armand Trousseau, Paris</wicri:regionArea></affiliation></author><author><name sortKey="De Blic, Jacques" sort="De Blic, Jacques" uniqKey="De Blic J" first="Jacques" last="De Blic">Jacques De Blic</name><affiliation wicri:level="1"><mods:affiliation>Université Paris Descartes, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Clement, Annick" sort="Clement, Annick" uniqKey="Clement A" first="Annick" last="Clement">Annick Clement</name><affiliation wicri:level="1"><mods:affiliation>INSERM UMR_S U938, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR_S U938, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>UPMC Université Paris 06, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UPMC Université Paris 06, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Epaud, Ralph" sort="Epaud, Ralph" uniqKey="Epaud R" first="Ralph" last="Epaud">Ralph Epaud</name><affiliation wicri:level="1"><mods:affiliation>INSERM UMR_S U938, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR_S U938, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>UPMC Université Paris 06, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UPMC Université Paris 06, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Archives of Disease in Childhood</title><title level="j" type="abbrev">Arch Dis Child</title><idno type="ISSN">0003-9888</idno><idno type="eISSN">1468-2044</idno><imprint><publisher>BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</publisher><date type="published" when="2010-06">2010-06</date><biblScope unit="volume">95</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="449">449</biblScope></imprint><idno type="ISSN">0003-9888</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0003-9888</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Acute bronchiolitis</term><term>Adenomatoid malformation</term><term>Alveolar type</term><term>Armand trousseau</term><term>Azithromycin</term><term>Balf</term><term>Balf analysis</term><term>Biol</term><term>Brichos</term><term>Brichos domain</term><term>Brichos domain group</term><term>Bril formation</term><term>Bronchoalveolar</term><term>Bronchoalveolar lavage</term><term>Centre hospitalier universitaire</term><term>Clinical presentation</term><term>Common mutation</term><term>Constant ndings</term><term>Control scan</term><term>Different treatments</term><term>Diffuse lung disease</term><term>Domain</term><term>Domain brichos domain</term><term>Domain group</term><term>Enteral nutrition</term><term>Exercise intolerance</term><term>Gastrointestinal symptoms</term><term>General anaesthesia</term><term>Genetic mutations</term><term>Hrct</term><term>Hrct scan</term><term>Hydroxychloroquine</term><term>Interstitial lung disease</term><term>Lung biopsy</term><term>Lung disease</term><term>Lung disorders</term><term>Lung surfactant protein</term><term>Methylprednisolone</term><term>Methylprednisolone pulse</term><term>Mutation</term><term>Mutation status</term><term>Ndings</term><term>Neutrophil percentage</term><term>Nogee</term><term>Nonbrichos domain</term><term>Nutritional support</term><term>Oral steroids</term><term>Oxygen saturation</term><term>Patients patients</term><term>Physical examination</term><term>Physiol</term><term>Physiol lung cell</term><term>Present study</term><term>Radiological features</term><term>Recombinant antihuman</term><term>Respir</term><term>Respir cell</term><term>Respir crit care</term><term>Respiratory distress</term><term>Respiratory symptoms</term><term>Sftpc</term><term>Sftpc disorders</term><term>Sftpc mutation</term><term>Sftpc mutations</term><term>Sporadic cases</term><term>Steroid</term><term>Supplemental oxygen</term><term>Surfactant</term><term>Surfactant homeostasis</term><term>Surfactant protein</term><term>Surfactant proteins</term><term>Symptom onset</term><term>Tachypnoea</term><term>Treatment modalities</term><term>Viral infection</term><term>Viral infection prophylaxis</term><term>Western blot analysis</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Study objectives To present diagnosis and treatment modalities of children with interstitial lung disease associated with frequent or rare surfactant protein C gene (SFTPC) mutation. Patients Twenty-two children with chronic lung disease associated with SFTPC mutation in a heterozygous form. Results Mutations located in the BRICHOS domain (‘BRICHOS domain’ group) were identified in six children, whereas 16 children carried mutations located outside the BRICHOS domain (‘non-BRICHOS domain’ group). The median age of onset was 3 (0–24) months. Four patients had neonatal respiratory distress, and symptom onset was associated with acute bronchiolitis in nine patients. Cough, tachypnoea and failure to thrive were initially noticed in all the children. Physical examination at presentation revealed tachypnoea (n=22), clubbing (n=1) and crackles (n=5). Low oxygen saturation (<95%) was observed in 18 patients. The predominant findings on initial high-resolution CT (HRCT) scans were basal-predominant ground-glass opacity (n=21) and cystic spaces (n=3). Bronchoalveolar lavage fluid (BALF) cell counts showed 379±56×103 cells/ml with increased neutrophil percentage (18±4%) independent of the mutation status. The median follow-up was 3.2 (1–18.3) years. Eighteen patients were treated by monthly methylprednisolone pulses associated with oral prednisolone (n=16), hydroxychloroquine (n=11) and/or azithromycin (n=4). Fifteen patients benefited from enteral nutrition. Conclusion Initial diagnosis is based on clinical presentation, radiological features and BALF analysis, but the definitive diagnosis requires genetic analysis. Although progressive improvement was seen in most patients, the development of new therapeutic strategies with minimal side effects is needed.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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