Researchers Study Rare Case of a Foodpipe Abnormality in Boy with Alport Syndrome

Michigan researchers reported the rare case of a 7-year-old boy with a foodpipe abnormality stemming from his Alport syndrome. About 5 percent of Alport patients develop a condition called diffuse leiomyomatosis. Its hallmarks are  an abnormal increase in the number of smooth muscle cells that facilitate certain functions in the…

Collagen Replacement in Recessive Alport Does Not Compensate For Gene Mutation

Researchers evaluated the impact of different collagen types in the renal function of mice with Alport syndrome. In autosomal recessive forms of the disease, another type of collagen steps in to fill the place of the lacking mutated chain, but these animal experiments suggest that the replacement does not compensate adequately.