Fox G F, Challis D, O'Brien K K, Kelly E N, Ryan G
Perinatal Unit, Mount Sinai Hospital, and Fetal Diagnosis and Treatment Centre, University of Toronto, Canada.
Acta Paediatr. 1998 Sep;87(9):1010-2. doi: 10.1080/080352598750031734.
We describe two cases of congenital chylothorax in siblings with important differences from previously described familial cases. Our findings support the likelihood of an autosomal recessive inheritance in some cases of this condition, rather than X-linked recessive inheritance, which has also been suggested. Autopsy findings from one of these cases and others previously described suggest that the pathophysiological mechanisms involved may be variable.
我们描述了两例先天性乳糜胸的兄弟姐妹病例，与先前描述的家族性病例有重要差异。我们的研究结果支持在某些这种情况下常染色体隐性遗传的可能性，而非之前也有人提出的X连锁隐性遗传。其中一例病例以及先前描述的其他病例的尸检结果表明，所涉及的病理生理机制可能各不相同。
