Author Archives: Magdalena Kegel

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…

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…

Analyzing the appearance of the glomerular, using a method called glomerular morphometry, may help to diagnose Alport disease and other kidney conditions in children. The study, “Contribution of glomerular morphometry to the diagnosis of pediatric nephropathies,” published in the journal Saudi Journal of Kidney Diseases and Transplantation, also…

Three-dimensional modeling of kidney structures in a mouse model of Alport disease, using very high-resolution microscopy, revealed how damage to the kidneys evolves. The data provides new insights into disease mechanisms that could lead to more specific treatments for patients with Alport disease, and possibly for those with other types…

Changes in cellular and molecular signaling, as well as increased mechanical strain, likely contribute to the development and progression of kidney damage in Alport disease. An overview, “Collagen IV diseases: A focus on the glomerular basement membrane in Alport syndrome,” published in the journal Matrix Biology, explored what scientists…

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.

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…

A multidrug cocktail known to halt the progression of  kidney disease in non-diabetic patients was seen to effectively improve kidney function and slow disease progression in a small group of patients with Alport syndrome. The study, “A Multidrug, Antiproteinuric Approach to Alport Syndrome: A Ten-Year Cohort Study,” published…

Alport syndrome is a rare genetic condition leading to kidney disease, as well hearing loss and eye problems. The disorder, also going under the name Hereditary Nephritis, Hereditary Deafness and Nephropathy, among others, is more common in boys. According to the National Organization for Rare Disorders (NORD), about…