Author Archives: Alice Melão

Spontaneous rupture of the anterior lens capsule of the eye is a serious complication of Alport syndrome that can be prevented with timely and proper care, a case report published at Open Access Macedonian Journal of Medical Sciences highlights. Alport syndrome, a progressive disorder, is caused by genetic mutations…

Platelet dysfunction due to renal diseases such as Alport syndrome can be effectively reversed with a successful kidney transplant, according to a study published in the Clinical Kidney Journal. It is common for patients with end-stage renal disease (ESRD) to experience bleeding, more frequent bleeding into the skin,…

A number of important discoveries, treatment developments, and other events related to Alport syndrome were reported by Alport Syndrome News during 2017. Now that the year is over, let’s take a quick look at the articles that appealed most to our readers. Here are the 10 most-read articles of 2017, with…

Analysis of kidney tissue can be an essential step for accurate diagnosis of complex conditions affecting the filtration function of the kidneys, contends a case report published in the journal Transplantation Proceedings. Alport’s Syndrome is a hereditary disease caused by genetic defects in the gene that encodes the several…

Chemical compounds known as small chaperone molecules can prevent the protein-structure abnormalities associated with the most common type of Alport syndrome, Australian researchers report. This leads to normal production of the collagen protein that is missing in the disease. Gene mutations cause collagen to misfold. Naturally occurring chaperone molecules prevent misfolding,…

Interim results from the Phase 2/3 CARDINAL trial show that using bardoxolone methyl can improve kidney function in patients with Alport syndrome. The results were shared in a poster presentation titled, “Initial Data Report from “CARDINAL”: A Phase 2/3 Study of Bardoxolone Methyl in Patients with Alport…

A new genetic mutation in the COL4A3 gene was identified in a Spanish family and linked to the development of Alport syndrome. According to findings reported in the study, “Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene,”…

Rare bilateral eye lens abnormalities without advanced renal manifestations were described in a patient with Alport syndrome in India. The case was described in the article titled “Simultaneous Bilateral Anterior and Posterior Lenticonus in Alport Syndrome,” that was published at the Journal of Clinical…

A case study of Alport syndrome will be the subject of an oral presentation and discussion at the 96th annual meeting of the American Academy of Optometry (AAO), Oct. 11-14 in Chicago. Titled “A Mutation in the Basement: Case Discussion of Alport Syndrome,” the case study will be…

Collagen deficiency in Alport syndrome leads to retina dysfunction due to changes in the retina’s cellular structure, finds a new study, “En face optical coherence tomography findings in a case of Alport syndrome,” that appeared in the Indian Journal of Ophthalmology. Alport is caused by a genetic…