Transient Tachypnea of the Newborn (TTN): A Role for Polymorphisms of Surfactant Protein B (SP-B) Encoding Gene?

Abstract

Background: Transient tachypnea of the newborn (TTN) is usually a benign self-limiting respiratory disorder in the immediate neonatal period. The lipophilic surfactant-associated protein B (SP-B) was demonstrated to be the most relevant structural component of the surfactant system for immediate postnatal pulmonary adaptation. We hypothesized genetic variations of surfactant protein B (heterozygous 121 ins 2 mutation er intron 4 polymorphisms) to be related to TTN. Patients and Method: We screened genomic DNA of 83 healthy term neonates (gestational age: 39 (37 - 41) completed weeks [median and range]; birth weight: 3325 ± 541 grams [mean ± SD]) and 75 infants presenting with TTN (gestational age: 38 (37 - 41) completed wecks [median and range]; birth weight: 3091 ± 435 grams [mean ± SD]) by means of PCR-amplification, fragment length and sequence analysis. TTN was diagnosed an the basis of the clinical signs with respiratory rate > 60 breaths/minute, fraction of inspired oxygen > 0.21, and characteristic radiographic findings within less than 24 hours after birth. Newborns with any infection, pulmonary or cardiac congenital malformations, postnatal asphyxia and infants born to diabetic mothers were excluded. Results: In TTN-group the frequency of male infants (68.4 % versus 44.6 %, p < 0.05) and caeserian section were significantly higher (68.4 % versus 30.1 %, p < 0.05). We did not find any statistical difference in frequency of intron 4 variations between controls and TTN-group (8.4 % versus 10.7 %). None of the infants were heterozygous for the 121ins2 SP-B mutation. Conclusions: WC conclude polymorphisms of intron 4 and heterozygous 121 ins 2 mutation not to associated with TTN.

Zusammenfassung

Hintergrund: Die transiente Tachypnoe des Neugeborenen (TTN) ist in der Regel ein selbstlimitierendes Krankheitsbild in der unmittelbaren neonatalen Periode. Das lipophile surfactantassoziierte Protein B (SP-B) ist das wichtigste Element des Surfactantsystems für die postnatale pulmonale Adaptation. Ziel unserer Arbeit war es, einen möglichen Zusammenhang zwischen genetischen Variationen des SP-B (heterozygote 121ins2 Mutation oder Polymorphismen im Intron 4) und der TTN zu untersuchen. Patienten und Methode: Wir analysierten die DNA von 83 gesunden Neugeb. (Gestationsalter: 39 (37 - 41) SSW ([Median (Minimum-Maximum)], Geburtsgewicht: 3325 ± 541 g [Mittelwert ± SD]) und 75 Reifgeborenen mit TTN (Gestationsalter: 38 (37 - 41) SSW [Median (Minimum-Maximum)], Geburtsgewicht: 3091 ± 435 g [Mittelwert ± SD]) mittels PCR, Fragmentlängenanalyse und Gensequenzierung. Die Diagnose der TTN basierte auf klinischen Zeichen mit Atemfrequenz > 60/min, FiO₂ > 0,21 und charakteristischen radiologischen Befunden innerhalb der ersten 24 h nach Geburt. Neugeborene mit Infektionen, angeborenen kardialen oder pulmonalen Fehlbildungen, Asphyxie und Kinder diabetischer Mütter wurden ausgeschlossen. Ergebnisse: In der TTN-Gruppe war der Anteil an männlichen Neugeborenen (68,4 % versus 44,6 %, p < 0.05) und Sectio-Entbindungen im Vergleich zur Kontrollgruppe signifikant höher (68,4% versus 30,1 %, p < 0,05). Die Häufigkeit der Intron 4-Polymorphismen unterschied sich nicht zwischen Kontroll- und TTN-Gruppe (8,4 % versus 10,7 %). Bei keinem der untersuchten Patienten fand sich eine heterozygote 121ins2-Mutation. Schlussfolgerung: Polymorphismen in den untersuchten Genabschnitten sind nicht für das Krankheitsbild der TTN verantwortlich.

Key words

Transient tachypnea of the newborn - SP-B polymorphisms - respiratory failure

Schlüsselwörter

Transiente Tachypnoe - SP-B Polymorphismen - Lungenversagen

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