The renal disease of thoracic asphyxiant dystrophy.
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.
D000141:Acidosis, Renal Tubular / Q000209:etiology; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005919:Glomerular Filtration Rate; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007223:Infant; D007231:Infant, Newborn; D007444:Inulin; D007668:Kidney / Q000473:pathology; D007674:Kidney Diseases / Q000209:etiology*; D010009:Osteochondrodysplasias / Q000150:complications*; D013909:Thorax / Q000002:abnormalities*
D007444:Inulin