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Eur Respir J. 2015 Jul;46(1):197-206. doi: 10.1183/09031936.00129414. Epub 2015 Feb 5.

Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.

Author information

1
Department of Pediatric Pneumology, Hauner Children's Hospital, Ludwig-Maximilians University, Comprehensive Pneumology Center Munich (CPC-M), German Center for Lung Research (DZL), Munich, Germany.
2
Department of Pathology, Ludwig-Maximilians University, Munich, Germany.
3
Department of Pediatric Radiology, Hauner Children's Hospital, Ludwig-Maximilians University, Munich, Germany.
4
Department of Pediatrics, HELIOS Klinikum Emil von Behring, Berlin, Germany.
5
Department of Pediatrics, Johann Wolfgang Goethe University, Frankfurt am Main, Germany.
6
Department of Pediatric Pneumology, Marien-Hospital GmbH, Wesel, Germany.
7
Department of Pediatric Pneumology, Clementinen Children's Hospital, Frankfurt am Main, Germany.
8
Department of Pediatrics, Maastricht University Medical Center, Maastricht, Netherlands.
9
Department of Pediatrics, St. Marien Hospital, Bonn, Germany.
10
Department of Pediatric Pneumology and Immunology, Charity University, Berlin, Germany.
11
Pediatric Consultation Center Laurensberg, Aachen, Germany.
12
Department of Pediatric Pneumology, University Hospital Leuven, Leuven, Belgium.
13
Department of Pediatric Pneumology, Klinikum Oldenburg gGmbH, Medizinischer Campus Universität Oldenburg, Oldenburg, Germany.
14
Department of Pediatric Pneumology, Gazi University Hospital, TR-Ankara, Turkey.
15
Department of Pediatric Pneumology, University Hospital Münster, Münster, Germany.
16
Department of Pathology, Academic Teaching Hospital Bielefeld, Bielefeld, Germany.
17
Institute of Laboratory Medicine and Human Genetics, Singen, Germany.
18
Department of Pediatric Pneumology, Hauner Children's Hospital, Ludwig-Maximilians University, Comprehensive Pneumology Center Munich (CPC-M), German Center for Lung Research (DZL), Munich, Germany matthias.griese@med.uni-muenchen.de.

Abstract

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 proven SFTPC mutation. 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 dominant SFTPC mutations. 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.

PMID:
25657025
DOI:
10.1183/09031936.00129414
[Indexed for MEDLINE]
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