Recurrent familial neonatal deaths: Hereditary surfactant protein B deficiency

C. Andersen, J. A. Ramsay, L. M. Nogee, J. Shah, S. E. Wert, B. Paes, M. J.M. Nowaczyk

Research output: Contribution to journalArticle

Abstract

Hereditary surfactant protein B (SP-B) deficiency is an uncommon autosomal recessive lung disorder that causes hypoxemic respiratory failure in mature, morphologically normal infants. Recognition and diagnosis of this condition is of paramount importance, as it has significant implications for future pregnancies with a recurrence risk of 25%. In a family with three neonatal deaths over 20 years, SP-B deficiency was diagnosed following the death of the fourth affected infant. Previous deaths were mistakenly attributed to hyaline membrane disease (HMD), congenital Mycoplasma hominis infection, and pulmonary hypertension, however, following the diagnosis in the proposita, SP-B deficiency was also confirmed in her deceased siblings by immunohistochemical staining of autopsy specimens. This case highlights the presentation, postnatal course, diagnosis, and therapeutic options of SP-B deficiency in addition to the mode of inheritance and the possibility of antenatal diagnosis. Genetic consultation is imperative in the investigations of recurrent neonatal deaths, especially in cases of remote events. The recent enormous advances in human genetics have shown that many conditions previously ascribed to environmental agents have a genetic basis.

Original languageEnglish (US)
Pages (from-to)219-224
Number of pages6
JournalAmerican journal of perinatology
Volume17
Issue number4
DOIs
StatePublished - 2000
Externally publishedYes

Keywords

  • Autosomal recessive
  • Hyaline membrane disease
  • Prenatal diagnosis
  • Recurrent neonatal deaths
  • Surfactant protein B deficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology

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  • Cite this

    Andersen, C., Ramsay, J. A., Nogee, L. M., Shah, J., Wert, S. E., Paes, B., & Nowaczyk, M. J. M. (2000). Recurrent familial neonatal deaths: Hereditary surfactant protein B deficiency. American journal of perinatology, 17(4), 219-224. https://doi.org/10.1055/s-2000-9418