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

TheScientificWorldJournal

Volumn 7, Issue , 2007, Pages 1611-1616

  Guala, Andrea ^a   Carrera, Paola ^b   Pastore, Guido ^c   Somaschini, Marco ^d   Ancora, Gina ^e   Faldella, Giacomo ^e   De Filippi, Paolo ^f   Ferrero, Federica ^g   Guarino, Roberta ^a   Danesino, Cesare ^f  

^a Ospedale Castelli Verbania   (Italy)

^b SAN RAFFAELE HOSPITAL   (Italy)

^c SANT'ANDREA HOSPITAL   (Italy)

^d BOLOGNINI HOSPITAL   (Italy)

^e UNIVERSITY OF BOLOGNA   (Italy)

^f UNIVERSITY OF PAVIA   (Italy)

^g UNIVERSITY OF EASTERN PIEDMONT   (Italy)

Author keywords

Familial clustering; Newborn; Respiratory distress

Indexed keywords

SURFACTANT;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CLUSTER ANALYSIS; FEMALE; FOLLOW UP; HEREDITY; HUMAN; INCIDENCE; LUNG CLEARANCE; MALE; NEWBORN; NEWBORN PERIOD; RECURRENT DISEASE; RESPIRATORY DISTRESS; RISK FACTOR; SURVIVAL; TACHYPNEA; TERM BIRTH;

FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; ITALY; MALE; PEDIGREE; RESPIRATORY DISTRESS SYNDROME, NEWBORN;

EID: 35148832524     PISSN: None     EISSN: 1537744X     Source Type: Journal    
DOI: 10.1100/tsw.2007.252     Document Type: Article

References (18)

1. Dani, C., Reali, M.F., Bertini, G., Wiechmann, L., Spagnolo, A., Tangucci, M., and Rubaltelli, F.F. (1999) Risk factors for the development of respiratory distress syndrome and transient tachypnea in newborn infants. Eur. Respir. J. 14, 155-159.
2. van Sonderen, L., Halsema, E.F., Spiering, E.J., and Koppe, J.G. (2002) Genetic influences in respiratory distress syndrome: a twin study. Semin. Perinatol. 26, 447-449.
3. Hagwood, S. (1998) Surfactant protein genes and human disease: the plot thickens. J. Pediatr. 132, 198-200.
4. Rubaltelli, F.F., Bonafè, L., Tangucci, M., and Italian Group of Neonatal Pneumology (1998) Epidemiology of neonatal acute respiratory disorders. Biol. Neonate 74, 7-15.
5. Bertrand, J.M., Riley, S.P., Popkin, J., and Coates, A.L. (1985) The long-term sequelae of prematurity. N. Engl. J. Med. 312, 742-745.
6. Hallman, M. (2004) Lung surfactant, respiratory failure, and genes. N. Engl. J. Med. 350, 1278-1280.
7. Sasidharan, P. (2004) An approach to diagnosis and management of cyanosis and tachypnea in term infants. Pediatr. Clin. North Am. 51, 999-1021.
8. Clark, H. and Clark, L.S. (2005) The genetics of neonatal respiratory disease. Semin. Fetal Neonatal Med. 10, 271-282.
9. Tutdibi, E., Hospes, B., Landmann, E., Gortner, L., Satar, M., Yurdakok, M., et al. (2003) Transient tachypnea of the newborn (TTN): a role for polymorphisms of surfactant protein B (SP-B) encoding gene? Klin. Padiatr. 215, 248-252.
10. Nagourney, B.A., Kramer, M.S., Klebanoff, M.A., and Usher, R.H. (1996) Recurrent respiratory distress syndrome in successive preterm pregnancies. J. Pediatr. 129, 591-596.
11. Haataja, R., Ramet, M., Martilla, R., and Hallman, M. (2000) Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome. Hum. Mol. Genet. 18, 2751-2760.
12. Cole, F.S., Hamvas, A., and Nogee, L.M. (2001) Genetic disorders of neonatal respiratory function. Pediatr. Res. 50, 157-162.
13. Zimmermann, L.J., Janssen, D.J., Tibboel, D., Hamvas, A., and Carnielli, V.P. (2005) Surfactant metabolism in the neonate. Biol. Neonate 87, 296-307.
14. Klein, J.M., Thompson, M.W., Snyder, J.M., George, T.N., Whitsett, J.A., Bell, E.F., et al. (1998) Transient surfactant protein B deficiency in a term infant with severe respiratory failure. J. Pediatr. 132, 244-248.
15. Rizzo, C., Nisini, R., and Marzetti, G. (2002) Respiratory distress syndrome in near term infants. J. Matern. Fetal Neonatal Med. 11, 350-351.
16. Tredano, M., Griese, M., de Blic, J., Lorant, T., Houdayer, T., Schumacher, S., et al. (2003) Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB. Am. J. Med. Genet. 121A, 324-339.
17. Agrawal, V., David, R.J., and Harris, V.J. (2003) Classification of acute respiratory disorders of all newborns in a tertiary care center. J. Natl. Med. Assoc. 95, 585-595.
18. Liem, J.J., Huq, S.I., Ekuma, O., Becker, A.B., and Kozyrsky, A.L. (2007) Transient tachypnea of the newborn may be an early clinical manifestation of wheezing symptoms. J. Pediatr. 151, 29-33.