News

Researchers have identified additional abnormalities of the retina associated with Alport syndrome, a new study shows. The study, “Bull’s Eye And Pigment Maculopathy Are Further Retinal Manifestations Of An Abnormal Bruch’s Membrane In Alport Syndrome,” was published in the journal Ophthalmic Genetics. Alport syndrome is mainly characterized by kidney…

Researchers from Japan identified a new mutation in a gene called COL4A5, which causes Alport Syndrome. The mutation was identified in a two-year-old Japanese girl and her mother.

Alport syndrome patients with poor visual acuity may need specific contact lenses, a case study reported. The study, “Contact Lens Fitting In A Patient With Alport Syndrome And Posterior Polymorphous Corneal Dystrophy: A Case Report,” was published in the journal Arquivos Brasileiros de Oftalmologia by Juliana Rosa and her colleagues…

A research team led by Prof. Hirofumi Kai from Kumamoto University in Japan has been awarded an international research grant from the Alport Syndrome Foundation, an organization based in the U.S. The Alport Syndrome Research Funding Program was established in 2010 and has selected one or two projects…

Researchers evaluated the impact of different collagen types in the renal function of mice with Alport syndrome. In autosomal recessive forms of the disease, another type of collagen steps in to fill the place of the lacking mutated chain, but these animal experiments suggest that the replacement does not compensate adequately.

The Alport Syndrome Foundation (ASF) has announced that it is accepting applications from Alport syndrome patients, ages 16-22, for the Paul Silver Tribute Award, an up to $1,000 prize that can be used by winners to further a wanted and life-enriching activity, from schooling to summer camp. The award…

A case report recently demonstrated that a correct diagnosis of Alport disease is crucial, but it may be difficult to distinguish from thin basement membrane disease — a similar kidney condition that doesn’t progress to kidney failure — and even biopsies can give inconclusive results. The study, “An Overlapping Case of Alport…

Pregnancy may enhance the progression of kidney failure in women with Alport syndrome — a development that, in turn,  could affect the development of her fetus, according to a case study published in the journal Open Access Macedonian Journal of Medical Sciences. In the study, “Two…

The Alport Syndrome Foundation (ASF), the leading non-profit organization in the U.S. serving the Alport syndrome community, is encouraging young patients to apply for the Paul Silver Tribute Award. The deadline for submissions is on Nov. 4. The award aims to enrich the lives of patients between…

Amiloride, a drug often used to treat hypertension and congestive heart failure, was shown to improve kidney function in a patient with chronic kidney disease stage 2 with Alport syndrome, researchers at Hospital Britanico de Buenos Aires, Argentina, reported. The study, “Podocyturia: A Clue for the Rational Use of…