Author Archives: Alice Melão

A new approach involving the analysis of a panel of 140 genes previously linked to kidney disease helped diagnose patients with cystic and glomerular inherited kidney diseases and determine the risk of disease progression, a study has found. This newly proposed, noninvasive tool can assist in the diagnosis of some…

Although the type of genetic mutations causing Alport syndrome influences disease progression and severity, it does not impact patient outcomes or survival chances after a kidney transplant, a study shows. The study,  “Genotype and Outcome After Kidney Transplantation in Alport Syndrome,” was published at the journal…

The safety and effectiveness of the investigational therapy bardoxolone methyl as a treatment for Alport syndrome and other renal diseases is controversial, with some experts saying longer and more robust clinical trials are necessary. The article, “Should We Increase GFR with Bardoxolone in Alport Syndrome?” was published in the…

A 9-year-old boy experienced an unusual transition from a kidney that appeared normal to one with the classical characteristics of Alport syndrome, according to a case study. The article about him, “A unique evolution of the kidney phenotype in a patient with autosomal recessive Alport syndrome,” appeared…

Japanese researchers have developed a sensitive, less time-consuming and cheaper way to assess the formation of a molecule whose dysfunction is connected with Alport syndrome. The high-throughput screening method evaluates the functioning of  type IV collagen (Col4). It could increase our knowledge of Alport, paving the way to new therapies, the…

More severe kidney impairment associated with increased levels of protein in the urine is linked to pregnancy complications and pre-term births in women with Alport syndrome, according to a small Italian study. The study, “Alport syndrome and pregnancy: a case series and literature review,” was published in…

Reata Pharmaceuticals is planning a third-quarter release of key results of a clinical trial assessing bardoxolone methyl‘s ability to treat Alport syndrome-related chronic kidney disease. The company said it expects the 52-week findings from the Phase 3 portion of the Phase 2/3 CARDINAL trial to support the U.S. Food and…

A rare case of an Alport syndrome patient with end-stage kidney disease and an inherited tumor-causing growth disorder — complicating his eligibility for a kidney transplant was reported. The study, “A patient with MEN1 and end-stage chronic kidney disease due to Alport syndrome: Decision making on the eligibility of…

Three different kidney disease types caused by similar genetic alterations may actually represent different stages of disease progression, according to the authors of a study published in Cytogenetic and Genome Research. In the study, “Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV…

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…