New Mutation in the COL4A5 Gene of X-linked Alport Syndrome Found, Case Study Reports
A new mutation in the COL4A5 gene — the gene involved in X-linked Alport syndrome — was found in a Japanese mother and daughter who ... Read more
Updates
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Advocacy Groups, Doctors Question Rising Prices of Rare Disease Treatments
Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire ... Read more -
COL4A5 and LAMA5 Mutations May Explain Range of Symptoms in Family with Hereditary Hematuric Disease, Study Shows
Mutations in two genes — COL4A5 and LAMA5 — can explain the range in severity of symptoms experienced by a family of patients with hereditary hematuric (blood ... Read more -
Study Helps Understand Hearing Loss in Patient with X-linked Alport Syndrome
Detailed analysis of inner ear structures in a patient diagnosed with X-linked inherited Alport syndrome reveals particular cochlea features that may contribute to hearing ... Read more
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#NORDSummit – More Than 700 Expected to Attend Oct. 15-16 Rare Disease Summit in Washington
More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to ... -
Alport Syndrome Screening in Adults May Be Critical to Enhance Care of Their Offspring, Study Suggests
Atypical presentation of Alport syndrome is common among mothers of children with the disease, ... -
American Kidney Fund Website Now Includes Information on Alport, Other Rare Kidney Diseases
The American Kidney Fund (AKF) has expanded the information available on its website, now ... -
More Studies Urged to Classify Gene Mutations Before Diagnosing Alport Syndrome
More studies are needed for the accurate classification of cases of heterozygous — only one ... -
Patients’ Stem Cells a Potential New Cell Model for Alport Research, Study Suggests
Using induced pluripotent stem cells may help researchers identify the underlying mechanisms of Alport ... -
Alport Syndrome and Its Challenges Focus of Early August Meeting with FDA
The National Kidney Foundation (NKF) recently held a patient-focused drug development meeting concerning Alport syndrome ...
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