Recurrent familial neonatal deaths: Hereditary surfactant protein B deficiency

被引:12
作者
Andersen, C
Ramsay, JA
Nogee, LM
Shah, J
Wert, SE
Paes, B
Nowaczyk, MJM
机构
[1] McMaster Univ, Med Ctr, Hamilton, ON L8S 4J9, Canada
[2] Hamilton Hlth Sci Corp, Dept Pediat, Hamilton, ON, Canada
[3] Hamilton Hlth Sci Corp, Dept Pathol & Mol Med, Hamilton, ON, Canada
[4] Johns Hopkins Univ, Sch Med, Dept Pediat, Div Neonatol, Baltimore, MD 21205 USA
[5] Childrens Hosp, Med Ctr, Div Pulm Biol, Cincinnati, OH 45229 USA
关键词
surfactant protein B deficiency; prenatal diagnosis; autosomal recessive; recurrent neonatal deaths; hyaline membrane disease;
D O I
10.1055/s-2000-9418
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
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 mistaken ty 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.
引用
收藏
页码:219 / 224
页数:6
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