Author Archives: Magdalena Kegel

A significant number of patients with a family history of kidney disease that was difficult to diagnose have autosomal dominant Alport syndrome, according to a study from Japan. The study, published in the journal Nephrology, suggests that genetic testing is crucial in patients with familial kidney disease who are difficult…

An imbalance in protein-related processes in the body is behind a variety of kidney diseases, including Alport syndrome, a top Korean researcher argues. But his arguments don’t shed new light about the mechanisms leading to Alport, or insights that might lead to new treatments for the progressive disease. The hypothesis, which…

Exposing a mouse model of Alport syndrome to the naturally occurring factor pentraxin-2 slowed progression of kidney disease and increased mice lifespan, say researchers at the University of Washington in Seattle. Their findings, published in the journal JCI Insight, suggest that pentraxin-2 could potentially treat chronic fibrotic kidney disease. Speculating on…

Regulus Therapeutics has completed dosing of its Alport syndrome drug candidate RG-012 in a Phase 1 trial testing several ascending doses of the treatment in healthy volunteers. The treatment was found safe and well-tolerated, and no serious adverse events were seen during the trial. The company also announced it…

Boosting a kidney enzyme pathway reduced inflammation and kidney damage in a mouse model of Alport syndrome, suggesting that stimulating the pathway may be a treatment option, according to a study. The pathway counterbalances another enzyme cascade that ACE inhibitors block. The inhibitors are often used to treat Alport. The…

While many Alport syndrome patients have heard about the possibility of preventing kidney failure with drugs called ACE inhibitors, the medications are approved only for adults in final disease stages. But one man has been working for years to come up with the evidence to prove the treatment is effectively…

New insights into Alport syndrome have shown that the inherited kidney disease previously thought to be untreatable does respond to therapy, according to a review of Alport developments, prospects and obstacles to treatment. The review writer, Dr. Clifford Kashtan of the University of Minnesota Medical School, also contended that the medical profession…

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 study of more than 750 previously unknown mutations in the Alport disease-causing collagen genes suggests that researchers have touched just the tip of the iceberg, identifying fewer than 10 percent of all possible genetic variants. Findings also demonstrated that the age at which patients reached end-stage renal failure was…

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…