Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress
Identifieur interne : 001041 ( Main/Exploration ); précédent : 001040; suivant : 001042Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress
Auteurs : Jeroen Van Hoorn [Pays-Bas] ; Arno Brouwers [Pays-Bas] ; Matthias Griese [Allemagne] ; Boris Kramer [Pays-Bas]Source :
- BMJ Case Reports [ 1757-790X ] ; 2014-03-19.
English descriptors
- Teeft :
- Alveolar type, Clinical condition, Clinical course, Curative treatment, Early onset, Elemental formula, Further permission, Gastric tube, Genetic disorders, Ground glass aspect, Ground glass attenuation, High resolution, Hrct, Hrct scan, Hydroxychloroquine, Individual cases, Interlobular septae, Interstitial lung disease, Length growth, Lung transplantation, Mechanical ventilation, Metabolism, Methylprednisolone pulse therapy, Mutation, Neonatal, Neonatal onset, Neonatal period, Neurological examination, Normal formula, Normal neurodevelopment, Normal range, Oral prednisolone, Patchy areas, Prospective studies, Pulmonary lavages, Remarkable improvement, Respiratory condition, Respiratory distress, Respiratory support, Respiratory symptoms, Severe onset, Sftpc, Sftpc gene, Sftpc mutations, Supplemental oxygen, Surfactant, Surfactant metabolism, Surfactant protein, Surfactant proteins, Systemic corticosteroids, Ventilation, Weight gain.
Abstract
The clinical course and treatment in the first 2.5 years of life of a term-born girl with a severe onset of respiratory symptoms in the neonatal period caused by a p.Cys121Phe/C121F mutation in the gene of surfactant protein C (SFTPC) is described. During the first 9 months of life, she was mechanically ventilated. With methylprednisolone pulse therapy and oral prednisolone, she could eventually gradually be weaned from mechanical ventilation. At the age of 2.5 years, she is in a good clinical condition without any respiratory support and has a normal nutritional status and neurodevelopment. This clinical course with neonatal onset of respiratory insufficiency is remarkable since most patients with SFTPC mutations present with milder respiratory symptoms in the first years of life.
Url:
DOI: 10.1136/bcr-2013-203053
Affiliations:
- Allemagne, Pays-Bas
- Bavière, District de Haute-Bavière
- Munich
- Université Louis-et-Maximilien de Munich
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formula</term><term>Normal neurodevelopment</term><term>Normal range</term><term>Oral prednisolone</term><term>Patchy areas</term><term>Prospective studies</term><term>Pulmonary lavages</term><term>Remarkable improvement</term><term>Respiratory condition</term><term>Respiratory distress</term><term>Respiratory support</term><term>Respiratory symptoms</term><term>Severe onset</term><term>Sftpc</term><term>Sftpc gene</term><term>Sftpc mutations</term><term>Supplemental oxygen</term><term>Surfactant</term><term>Surfactant metabolism</term><term>Surfactant protein</term><term>Surfactant proteins</term><term>Systemic corticosteroids</term><term>Ventilation</term><term>Weight gain</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">The clinical course and treatment in the first 2.5 years of life of a term-born girl with a severe onset of respiratory symptoms in the neonatal period caused by a p.Cys121Phe/C121F mutation in the gene of surfactant protein C (SFTPC) is described. During the first 9 months of life, she was mechanically ventilated. With methylprednisolone pulse therapy and oral prednisolone, she could eventually gradually be weaned from mechanical ventilation. At the age of 2.5 years, she is in a good clinical condition without any respiratory support and has a normal nutritional status and neurodevelopment. 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