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 language | English (US) |
|---|---|
| Pages (from-to) | 219-224 |
| Number of pages | 6 |
| Journal | American Journal of Perinatology |
| Volume | 17 |
| Issue number | 4 |
| State | Published - 2000 |
| Externally published | Yes |
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Keywords
- Autosomal recessive
- Hyaline membrane disease
- Prenatal diagnosis
- Recurrent neonatal deaths
- Surfactant protein B deficiency
ASJC Scopus subject areas
- Obstetrics and Gynecology
- Pediatrics, Perinatology, and Child Health
Cite this
Recurrent familial neonatal deaths : Hereditary surfactant protein B deficiency. / Andersen, C.; Ramsay, J. A.; Nogee, Lawrence; Shah, J.; Wert, S. E.; Paes, B.; Nowaczyk, M. J M.
In: American Journal of Perinatology, Vol. 17, No. 4, 2000, p. 219-224.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Recurrent familial neonatal deaths
T2 - Hereditary surfactant protein B deficiency
AU - Andersen, C.
AU - Ramsay, J. A.
AU - Nogee, Lawrence
AU - Shah, J.
AU - Wert, S. E.
AU - Paes, B.
AU - Nowaczyk, M. J M
PY - 2000
Y1 - 2000
N2 - 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.
AB - 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.
KW - Autosomal recessive
KW - Hyaline membrane disease
KW - Prenatal diagnosis
KW - Recurrent neonatal deaths
KW - Surfactant protein B deficiency
UR - http://www.scopus.com/inward/record.url?scp=0033792471&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0033792471&partnerID=8YFLogxK
M3 - Article
C2 - 11041444
AN - SCOPUS:0033792471
VL - 17
SP - 219
EP - 224
JO - American Journal of Perinatology
JF - American Journal of Perinatology
SN - 0735-1631
IS - 4
ER -