Stevenson David A, Pysher Theodore J, Ward Robert M, Carey John C
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA.
Am J Med Genet A. 2006 Feb 15;140(4):368-72. doi: 10.1002/ajmg.a.31093.
Pulmonary lymphangiectasia is an uncommon congenital anomaly, and familial occurrence has rarely been reported. We report on two sibs with bilateral pleural effusion/chylothorax and hydrops who died neonatally. One sib required prenatal intrauterine hemithoracic drainage. Autopsy confirmed congenital pulmonary lymphangiectasia (CPL) histologically in the first case. Hydrops, characterized as subcutaneous edema and effusions in two or more body cavities, may be due to a variety of factors, but the co-occurrence of CPL in one of these sibs, although rare, supports the notion that chylothorax and hydrops may be caused by structural lesions of lymph channels. Although most cases of CPL are sporadic, the reported sibs support autosomal recessive inheritance, with intrafamilial variability of a lymphatic disorder on a genetic basis. Mutations in vascular endothelial growth factor receptor-3 (VEGFR3) in families with Milroy disease, mutations of FOXC2 in the lymphedema-distichiasis syndrome, and fatal chylothorax in alpha9-deficient mice are potential candidate genes.
肺淋巴管扩张症是一种罕见的先天性异常，家族性发病鲜有报道。我们报告了两例患双侧胸腔积液/乳糜胸和水肿的同胞，他们均于新生儿期死亡。其中一例同胞在产前需要进行宫内半胸引流。尸检在第一例中从组织学上证实为先天性肺淋巴管扩张症（CPL）。水肿表现为皮下水肿和两个或更多体腔积液，可能由多种因素引起，但其中一例同胞同时患有CPL，尽管罕见，这支持了乳糜胸和水肿可能由淋巴管结构病变引起的观点。虽然大多数CPL病例是散发性的，但所报道的同胞病例支持常染色体隐性遗传，即基于遗传的淋巴系统疾病在家族内存在变异性。米尔罗伊病家族中血管内皮生长因子受体-3（VEGFR3）的突变、淋巴水肿-双行睫综合征中FOXC2的突变以及α9缺陷小鼠中的致命乳糜胸都是潜在的候选基因。
