Cerebropulmonary dysgenetic syndrome

Ventilatory treatment of neonatal respiratory distress often results in bronchopulmonary dysplasia from congenital surfactant deficiency due to mutants of transporter protein ABCA3. Association of this condition with other severe disorders in premature newborns has not heretofore been reported. A ne...

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Veröffentlicht in:	Experimental and molecular pathology 2008-10, Vol.85 (2), p.112-116
Hauptverfasser:	Shanklin, D. Radford, Mullins, Amanda C., Baldwin, Heather S.
Format:	Artikel
Sprache:	eng
Schlagworte:	ABCA3 mutation ATP-Binding Cassette Transporters - genetics Biological and medical sciences Bronchopulmonary dysplasia Bronchopulmonary Dysplasia - genetics Bronchopulmonary Dysplasia - pathology Cerebral dystrophy Cerebropulmonary dysgenetic syndrome Congenital fibrosis of thyroid Fatal Outcome Heterozygote Heterozygotic mutation Humans Infant, Newborn Infant, Premature, Diseases - genetics Investigative techniques, diagnostic techniques (general aspects) Lung fibrosis Medical sciences Mutation Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques Pneumology Pulmonary Surfactants - therapeutic use Respiratory distress syndrome Respiratory Distress Syndrome, Newborn - drug therapy Respiratory Distress Syndrome, Newborn - genetics Respiratory Distress Syndrome, Newborn - metabolism Respiratory system : syndromes and miscellaneous diseases Retarded cortical neuronal migration Surfactant deficiency Syndrome
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