Alport Disease May Be Identified by More Severe Symptoms in Children With Thin Basement Membrane Disease

As a small proportion of children, initially diagnosed with thin basement membrane disease, eventually receive an Alport disease diagnosis, it is crucial to continue to monitor all children with thin basement membranes, performing genetic and tissue analyses as often as possible. The study, “The Transition from Thin Basement…

Next Generation Sequencing Used to Diagnose Alport in Early Stages in Study

A new way of diagnosing Alport disease, using next generation sequencing, has the potential to identify patients at early disease stages — a practice that could delay the onset of end-stage kidney disease and improve life expectancy. The study, “Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders,” published in…

Correct Alport Diagnosis Crucial but Not Always Straightforward, Case Report Shows

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…