Familial clustering of unexplained transient respiratory distress in 12 newborns from three unrelated families suggests an autosomal-recessive inheritance

Andrea Guala, Paola Carrera, Guido Pastore, Marco Somaschini, Gina Ancora, Giacomo Faldella, Paolo De Filippi, Federica Ferrero, Roberta Guarino, Cesare Danesino

Research output: Contribution to journalArticlepeer-review

Abstract

We report on 12 near-term babies from three families in which an unexplained transient respiratory distress was observed. No known risk factor was present in any family and no sequelae were recorded at follow-up. The most common causes of respiratory distress at birth are Neonatal Respiratory Distress Syndrome (NRD) and Transient Tachypnea of the Newborn (TTN), and their cumulative incidence is estimated to be about 2%. Genetic factors have been identified in NRD (surfactant genes) or suggested for TTN (genes affecting lung liquid clearance). Survivors from NRD may develop clinically relevant sequelae, while TTN does not cause any problem later in life. Our cases do not immediately fit NRD or TTN, while familial recurrence suggests the existence of a previously unreported subgroup on patients with respiratory distress for which autosomal-recessive inheritance is likely.

Original languageEnglish
Pages (from-to)1611-1616
Number of pages6
JournalTheScientificWorldJournal
Volume7
DOIs
Publication statusPublished - Sep 28 2007

Keywords

  • Familial clustering
  • Newborn
  • Respiratory distress

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Environmental Science(all)
  • Medicine(all)

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