Review Provides Insight into Alport Patient and Research Communities
The care of Alport syndrome patients at specific critical junctions — diagnosis, transition to adult care, and pregnancy — is among the topics ... Read more
Updates
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Macedonian Gaucher Activist Publicizes Plight of Rare Disease Patients
The challenges Vesna Aleksovska faced when she decided a decade ago to help fellow Macedonians with rare diseases were so daunting, they would have ... Read more -
New COL4A5 Mutation Linked to X-linked Alport in Chinese Family
A new genetic variant of the COL4A5 gene was identified in the family of a Chinese boy with atypical X-linked Alport syndrome. The case ... Read more -
World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients
It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing ... Read more -
Sulfatides May Play Important Role in Early Stages of Alport Syndrome, Mouse Study Says
Scientists found two molecules called sulfatides in the kidneys of a mouse model of Alport syndrome that may play an important role during the ... Read more
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NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy ... -
Ongoing Research Testing Several New Therapies for Alport Syndrome
While Alport syndrome currently remains without a cure, ongoing research is testing several strategies ... -
Eurordis Unveils Integrated-care Initiative for Rare Disease Patients
Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to ... -
New Mutations, Possible Links to Alport Syndrome Progression Found in Chinese Families, Study Shows
Researchers have found six new mutations underlying Alport syndrome (AS) in seven Chinese families, ... -
Alport Diagnosed in Woman with Chronic Kidney Disease, Case Report Shows
A 53-year-old woman with worsening kidney function was diagnosed with Alport syndrome after an ...
Variants in Certain Gene Might Increase Alport Syndrome Severity in Females
News
Variants in the COL4A3 gene may account for Alport syndrome disease severity in female patients, according to a new study. The study, “Female X-Linked Alport Syndrome With Somatic Mosaicism,” was published in the journal Clinical Experimental Nephrology. Alport syndrome is ... Read more