Fifteen new mutations and two new deletions have been identified in three genes that encode for type 4 collagen in Alport syndrome patients. These new findings are now added to the already known spectrum of mutations associated with Alport syndrome and may help to improve disease prognosis as a result…

The possibility that infants with urine abnormalities may have both Alport syndrome (AS) and Klinefelter syndrome (KS) should be considered, even they have no family history of the diseases, researchers suggested in a case of a 9-month-old boy. The recommendation was made by Japanese scientists in the study, “Combined Alport…

Using plucked hairs from patients, researchers found a variant in the COL4A5 gene leading to hereditary Alport syndrome. This analysis may constitute a new, less-invasive method for diagnosing the disease. Results of this work were published in the journal Pediatric Nephrology under the title “Functional Assessment Of A…

A new mutation causing the autosomal dominant form of Alport syndrome has been identified in a Chinese family, reports a study published in the Indian Journal of Medical Research.

Researchers in China identified a new mutation causing Alport syndrome. This knowledge can help better diagnose the condition in the future.

More than 100 clinicians, researchers, patient organization and pharmaceutical industry representatives from around the world came together in Göttingen, Germany last year for an International Workshop on Alport Syndrome.