Gruskin A B, Baluarte H J, Cote M L, Elfenbein I B
Birth Defects Orig Artic Ser. 1974;10(4):44-50.
In those children with thoracic asphyxiant dystrophy, a genetically determined disorder, who survive infancy, the development of renal disease may be life-threatening. This report will present data obtained in six patients from three families which deals with the renal abnormalities in thoracic asphyxiant dystrophy. Both functional and anatomic abnormalities are described. Abnormalities in solute transport in the proximal tubule may be the earliest sign of renal dysfunction in this syndrome. Early glomerular changes may be more important than previously recognized. Finally, the various phenotypic expressions of this disorder are considered.
在那些患有胸廓窒息性发育不良（一种由基因决定的疾病）且存活至婴儿期的儿童中，肾脏疾病的发展可能会危及生命。本报告将呈现从三个家庭的六名患者中获得的数据，这些数据涉及胸廓窒息性发育不良中的肾脏异常情况。文中描述了功能和解剖学上的异常。近端肾小管溶质转运异常可能是该综合征肾功能障碍的最早迹象。早期肾小球变化可能比之前认为的更为重要。最后，还考虑了该疾病的各种表型表达。
