Kleinlein, Barbara and Griese, Matthias and Liebisch, Gerhard and Krude, Heiko and Lohse, Peter and Aslanidis, Charalampos and Schmitz, Gerd and Peters, Jochen and Holzinger, Andreas (2011) Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis. ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION, 96 (6). F453-F456. ISSN 1359-2998,
Full text not available from this repository. (Request a copy)Abstract
Defects of the NKX2-1 gene, encoding thyroid transcription factor-1, cause brain-thyroid-lung syndrome (MIM 610978), characterised by benign hereditary chorea, congenital hypothyroidism and respiratory disease. The case of a term infant with mild primary congenital hypothyroidism and neonatal persistent respiratory failure with fatal outcome at 10 months of age despite continuous ventilatory support is described. Congenital defects of genes known to disturb surfactant protein and lipid homeostasis (SFTPB, SFTPC, ABCA3) were excluded. Hypothyroidism prompted sequencing of NKX2-1, which revealed a heterozygous 29 bp deletion (c.278_306del29) disrupting the affected allele. Analysis of bronchoalveolar lavage fluid demonstrated an abnormally low amount of surfactant protein C (SP-C) in relation to SP-B, and low levels of surfactant phospholipids, indicating disturbance of SP and lipid homeostasis as a consequence of NKX2-1 haploinsufficiency. NKX2-1 haploinsufficiency may lead to lethal respiratory failure of the newborn due to disruption of pulmonary surfactant homeostasis. NKX2-1 gene analysis should be considered when investigating irreversible respiratory insufficiency of the newborn.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | THYROID TRANSCRIPTION FACTOR-1; INTERSTITIAL LUNG-DISEASE; PROTEIN-C GENE; FACTOR-I; BINDING PROTEIN; B GENE; DEFICIENCY; EXPRESSION; MUTATIONS; PROMOTER; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 27 May 2020 10:01 |
| Last Modified: | 27 May 2020 10:01 |
| URI: | https://pred.uni-regensburg.de/id/eprint/19915 |
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