News

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…

Chorionic stem cells are able to differentiate into a specialized type of kidney cells both in the laboratory and when injected into the abdomen of a mouse model of Alport syndrome, showed a study published in the scientific journal Stem Cells and Development. This means that chorionic stem cells may offer hope for Alport syndrome patients in the future by delaying the development of kidney disease or even treating the condition by replacing defective kidney cells.

The Alport Syndrome Foundation (ASF), the Pedersen Family and the Kidney Foundation of Canada (KFOC) have announced that there are new funds available for researchers working to increase knowledge of Alport syndrome. The program anticipates awarding two research grants worth $100,000 each. The funding programs are…

Kidney complications in Alport syndrome start with the invasion of the small blood vessels of the kidneys by the projections of mesangial cells, showed a study conducted in a dog model.

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 recent study reveals that a pregnancy without the need for treatment is possible for women with Alport syndrome, but more research is needed to help predict which patients can successfully carry to term. The woman, who had autosomal recessive disease, only experienced moderately raised levels of proteins in her urine during the last…

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.

Scientists have found that a recombinant human protein, pentraxin-2 (rhPTX-2), slows progression of kidney disease in mice with Alport syndrome, extends lifespan by 20% and reduces blood markers indicating kidney failure. These findings suggest a potential alternative therapy for chronic fibrotic kidney disease. Prior research has suggested…

A young Alport syndrome patient with ocular anomalies improved her vision through an eye surgery called toric multifocal intraocular lens implantation, a procedure that allows the substitution of a deficient eye lens for a tiny, artificial new one. The study, “Toric Multifocal Intraocular Lens Implantation In A Case Of Bilateral Anterior…

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