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Low-dose local anesthesia may be an alternative to general anesthesia for Alport syndrome patients undergoing a renal transplant, aiding in a faster recovery of renal function, according to a case study in Italy. The study, ‘’Low-dose Spinal Block With Continuous Epidural Infusion for Renal Transplantation in a Patient With Alport Syndrome: A Case Report,’’…

Researchers identified a molecular pathway that may contribute to the development of Alport glomerular disease and whose activation may be used as a possible biomarker for the disease, according to a new study. The study, “Endothelin A Receptor Activation On Mesangial Cells Initiates Alport Glomerular Disease,” was published in…

Patients with Alport syndrome who undergo kidney transplantation due to end-stage kidney disease have similar patient and graft survival rates to patients who have end-stage kidney disease not caused by Alport syndrome, confirms a study published in the medical journal Renal Failure.

Blocking the renin-angiotensin-aldosterone system (RAAS) before kidney function is impaired is critical and could delay the progression of Alport syndrome (AS) according to a study published in the Tohoku Journal of Experimental Medicine.

Symptoms associated with kidney function are much milder in the case of the autosomal dominant Alport syndrome than the forms of the disease that has an autosomal or X–linked inheritance pattern, according to a study published in the Clinical Journal of the American Society of Nephrology.

A study of more than 750 previously unknown mutations in the Alport disease-causing collagen genes suggests that researchers have touched just the tip of the iceberg, identifying fewer than 10 percent of all possible genetic variants. Findings also demonstrated that the age at which patients reached end-stage renal failure was…

Researchers at Washington University School of Medicine found that circulating and filtered albumin — a common protein found in the blood, made by the liver — contributes to the progression of kidney disease in people with Alport syndrome. Details of the study, ‘‘Albumin contributes to kidney disease progression in…

More complex inheritance patterns, with mutations in more than one gene, may be more common than previously thought and may explain the variability in symptoms seen among Alport disease patients. The study, “Alport syndrome: impact of digenic inheritance in patients management,” published in the journal Clinical…

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…