The renal disease of thoracic asphyxiant dystrophy
Gruskin, A.B.; Baluarte, H.J.; Cote, M.L.; Elfenbein, I.B.
Birth Defects Original Article Series 10(4): 44-50
1974
ISSN/ISBN: 0547-6844 PMID: 4470906 Document Number: 71011
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.