Siegler R L, Brewer E D, Carey J C
Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.
Am J Med Genet. 1992 Nov 1;44(4):461-4. doi: 10.1002/ajmg.1320440415.
A previously undescribed fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys occurred in sibs. They both presented during early childhood with cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. Later, they developed recurrent pneumonia (one was shown to have immotile bronchial cilia) and progressive azotemia leading to end-stage renal disease (ESRD) by late childhood. Both died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance is proposed since the normal parents were distant cousins, and 4 other sibs were normal.
一种此前未被描述的致命性多系统综合征出现在一对同胞兄妹身上，该综合征累及眼睛、耳朵、肺部、肠道和肾脏。他们在幼儿期均出现白内障、中耳炎、肠道吸收不良、慢性呼吸道感染以及生长发育迟缓。后来，他们患上复发性肺炎（其中一人被证实支气管纤毛不动），并逐渐发展为氮质血症，到儿童晚期发展为终末期肾病（ESRD）。两人均死于严重感染（败血症、脑膜炎）。由于正常父母是远亲，且另外4个同胞正常，故推测为常染色体隐性遗传模式。
