New Mutations, Possible Links to Alport Syndrome Progression Found in Chinese Families, Study Shows

Researchers have found six new mutations underlying Alport syndrome (AS) in seven Chinese families, as well as drawing possible correlations between the type of mutations involved and disease progression, a study reports. They also found differences between males and females in regards to…

COL4A5 Protein Measurements in Alport Patients’ Kidneys May Aid in Prognosis, Researchers Say

The extent of loss of the COL4A5 protein in the kidneys of Alport syndrome patients is linked to a more severe disease progression, researchers at the Mayo Clinic in Minnesota argue. This feature, however, is not common in patients diagnosed with Alport in adulthood, according to the study,…

Multiple Mutations in Alport Disease Complicate Patient Assessments

More complex inheritance patterns, with mutations in more than one gene, may be more common than previously thought and may explain the variability in symptoms seen among Alport disease patients. The study, “Alport syndrome: impact of digenic inheritance in patients management,” published in the journal Clinical…