Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients
| Autor: | Stefan Zielen, Peter Lohse, Claus Pfannenstiel, Ann-Christin Grimmelt, Frank Brasch, Joerg Brand, Andrea Schams, Ayse Tana Aslan, Veronika Teusch, Monika Gappa, Ralf Zarbock, Lars Lange, Boris W. Kramer, Matthias Griese, Marijke Proesmans, Carolin Kröner, Richard Kitz, Tugba Sismanlar, Susanne Lau, Michael Barker, Claudius Werner, Jürgen Seidenberg, Simone Reu |
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| Přispěvatelé: | Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: MHeNs - R3 - Neuroscience, RS: GROW - Developmental Biology, RS: GROW - R4 - Reproductive and Perinatal Medicine |
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Pulmonary and Respiratory Medicine
Male medicine.medical_specialty Pathology Heterozygote Adolescent Genotype Biopsy Context (language use) Bronchoalveolar Lavage Fibrosis Internal medicine medicine Humans Prospective Studies Young adult Prospective cohort study Child Genes Dominant Retrospective Studies Pulmonary Surfactant-Associated Protein B business.industry Surfactant Protein C Deficiency Interstitial lung disease Infant Newborn Infant Surfactant protein C respiratory system medicine.disease Pulmonary Surfactant-Associated Protein C respiratory tract diseases stomatognathic diseases Child Preschool Mutation Female business Lung Diseases Interstitial Follow-Up Studies |
| Zdroj: | European Respiratory Journal, 46(1), 197-206. European Respiratory Society |
| ISSN: | 1399-3003 0903-1936 |
| Popis: | Patients with interstitial lung disease due to surfactant protein C (SFTPC) mutations are rare and not well characterised.We report on all subjects collected over a 15-year period in the kids-lung register with interstitial lung disease and a provenSFTPCmutation. We analysed clinical courses, interventions and outcomes, as well as histopathological and radiological interrelations.17 patients (seven male) were followed over a median of 3 years (range 0.3–19). All patients were heterozygous carriers of autosomal dominantSFTPCmutations. Three mutations (p.L101P, p.E191 K and p.E191*) have not been described before in the context of surfactant protein C deficiency. Patients with alterations in the BRICHOS domain of the protein (amino acids 94–197) presented earlier. At follow-up, one patient was healthy (2 years), six patients were “sick-better” (2.8 years, range 0.8–19), seven patients were “sick-same” (6.5 years, 1.3–15.8) and three patients were “sick-worse” (0.3 years, 0.3–16.9). Radiological findings changed from ground-glass to increasing signs of fibrosis and cyst formation with increasing age. Empiric treatments had variable effects, also in patients with the same genotype.Prospective studies with randomised interventions are urgently needed and can best be performed in the framework of international registers. |
| Databáze: | OpenAIRE |
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