Researchers have discovered a new mutation in the COL4A4 gene that leads to the development of Alport syndrome, according to a recent case report. The case report, titled “Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report,” was published in the…
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 in the urine) disease. The study, titled “COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?” was published in the journal BMC…
The National Kidney Foundation (NKF) recently held a patient-focused drug development meeting concerning Alport syndrome (AS) with the U.S. Food and Drug Administration (FDA). This meeting was conducted in conjunction with The Alport Syndrome Foundation. The meeting, which was took place Aug. 3 in Hyattsville, Maryland, was the second…
Alport syndrome is a potential risk factor for pregnancy-related complications, a review indicates. Two implications are that women with the disease should receive counseling before they conceive and doctors should follow them closely during their pregnancy, the researchers said. The study, “Alport syndrome and pregnancy: a case series and…
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