Author Archives: Jose Marques Lopes, PhD

A patient with Alport syndrome (AS) showed clinical improvement years after receiving a transplant of a kidney from his father, even though subsequent genetic analysis found that the patient has autosomal recessive AS (ARAS) while his father has the autosomal dominant (ADAS) form of the condition. The…

Genetic tests led to the diagnosis of X-linked Alport syndrome in a man with rheumatoid arthritis (RA), explaining the finding of small amounts of blood in his urine, according to a case report. The research, “An overlap of Alport syndrome and rheumatoid arthritis in a…

A 53-year-old woman with worsening kidney function was diagnosed with Alport syndrome after an initial suspicion of drug-induced ANCA-associated vasculitis (DIAV), a case study reports. The report, “Incidentally Diagnosed Alport Syndrome in a Patient with Drug-Induced Vasculitis,” appeared in the journal Case Reports in…

Children with Alport syndrome showed significant thinning of the macula, the central part of the retina, among other eye changes, according to a study. The study, “Increased Subfoveal Choroidal Thickness and Retinal Structure Changes on Optical Coherence Tomography in Pediatric Alport Syndrome Patients,” appeared in the…

A technique called whole-exome sequencing (WES) that screens the protein-coding region of the DNA enabled the identification of mutations in the COL4A5 gene in two girls with Alport syndrome and no family history of the disease, a case study reports. The study, “De novo mutations…

Kidney transplantation in those with Alport syndrome may have better patient and graft survival rates compared to patients with other causes of end-stage renal disease (ESRD). Available evidence also indicates that careful evaluation of potential donors, particularly for mutations in key Alport genes, is required. The review…

Patients with chronic kidney disease due to Alport syndrome, particularly women and those with the X-linked form of the disorder, have a low quality of life that decreases over time, according to a natural history of disease study. Findings of the study, conducted by Regulus Therapeutics, also revealed new…

More studies are needed for the accurate classification of cases of heterozygous — only one gene copy affected — COL4A3 or COL4A4 mutations causing kidney failure, according to an editorial. In the meantime, diagnosing these patients as Alport syndrome should be avoided. The editorial, “Should we diagnose autosomal…

An article that reported concerns about the effectiveness and safety of bardoxolone methyl, now in a pivotal study of Alport syndrome patients, are “inaccurate” and “out of date,” according to Colin Meyer, MD, chief medical officer for Reata Pharmaceuticals. Meyer was responding to the article, “Should We Increase GFR with Bardoxolone in…

Researchers have developed a high sensitivity, large-scale screening test that suggests a new molecular therapeutic approach for Alport syndrome. The study, “A Split-Luciferase-Based Trimer Formation Assay as a High-throughput Screening Platform for Therapeutics in Alport Syndrome, “ was published in the journal Cell Chemical Biology. Alport syndrome…