白细胞黏附缺陷综合征：智利及南美洲首例病例报告。
Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South America.
作者信息
Vásquez-De Kartzow Rodrigo, Jesam Cristian, Nehgme Valentina, Várgas Francisco, Sepúlveda Carolina
机构信息
Department of Pediatrics, Campus Centro, Facultad de Medicina de la Universidad de Chile, Santiago, Chile.
出版信息
Sao Paulo Med J. 2012;130(4):263-6. doi: 10.1590/s1516-31802012000400011.
CONTEXT
Adhesion molecule deficiency type 1 is a rare disease that should be suspected in any patient whose umbilical cord presents delay in falling off, and who presents recurrent severe infections. Early diagnostic suspicion and early treatment improve the prognosis.
CASE REPORT
The case of a four-month-old boy with recurrent hospitalizations because of severe bronchopneumonia and several episodes of acute otitis media with non-purulent drainage of mucus and positive bacterial cultures is presented. His medical history included neonatal sepsis and delayed umbilical cord detachment. Laboratory studies showed marked leukocytosis with predominance of neutrophils and decreased CD11b and CD18. These were all compatible with a diagnosis of leukocyte adhesion deficiency type I [LAD type 1].
背景
1型黏附分子缺陷是一种罕见疾病，对于任何脐带脱落延迟且反复发生严重感染的患者都应怀疑此病。早期诊断怀疑和早期治疗可改善预后。
病例报告
本文介绍了一名4个月大男婴的病例，该患儿因严重支气管肺炎反复住院，并有几次急性中耳炎发作，伴有黏液非脓性引流和细菌培养阳性。他的病史包括新生儿败血症和脐带脱落延迟。实验室检查显示明显的白细胞增多，以中性粒细胞为主，CD11b和CD18降低。这些均符合1型白细胞黏附缺陷（LAD-1型）的诊断。
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