van Heijst A F, Semmekrot B A, Kollée L A, van de Bor M
Academisch Ziekenhuis, afd. Neonatologie, Nijmegen.
Ned Tijdschr Geneeskd. 1999 Jun 12;143(24):1256-60.
A fullterm newborn boy developed severe respiratory insufficiency, multiple air leaks and severe pulmonary hypertension, leading to his death on the third day of life. Family history revealed that a sister of the patient had died earlier after a similar course with respiratory problems. The most common causes of respiratory insufficiency could be subsequently excluded. After extensive postmortem investigation alveolar proteinosis was found in the lung tissue. DNA investigation was then performed in the parents, and both appeared to be heterozygotic for the 121ins2 mutation. This finding suggests both children in this family to have been homozygotic for the 121ins2 mutation resulting in a lack of synthesis of surfactant protein B (SP-B). Homozygotic SP-B deficiency in the newborn is a fatal disease with no curative perspectives, except for lung transplantation and gene therapy.
一名足月儿男婴出现严重呼吸功能不全、多处空气泄漏和严重肺动脉高压，于出生后第三天死亡。家族史显示，该患儿的一个姐姐曾在经历类似的呼吸问题病程后早夭。随后可排除呼吸功能不全的常见病因。经过广泛的尸检调查，在肺组织中发现了肺泡蛋白沉积症。随后对患儿父母进行了DNA检测，结果显示两人均为121ins2突变的杂合子。这一发现表明，该家庭的两个孩子均为121ins2突变的纯合子，导致表面活性物质蛋白B（SP-B）合成缺乏。新生儿纯合子SP-B缺乏症是一种致命疾病，除肺移植和基因治疗外，尚无治愈方法。
