Özge Özkaya, PhD,  —

The possibility that infants with urine abnormalities may have both Alport syndrome (AS) and Klinefelter syndrome (KS) should be considered, even they have no family history of the diseases, researchers suggested in a case of a 9-month-old boy. The recommendation was made by Japanese scientists in the study, “Combined Alport…

Chorionic stem cells are able to differentiate into a specialized type of kidney cells both in the laboratory and when injected into the abdomen of a mouse model of Alport syndrome, showed a study published in the scientific journal Stem Cells and Development. This means that chorionic stem cells may offer hope for Alport syndrome patients in the future by delaying the development of kidney disease or even treating the condition by replacing defective kidney cells.

Kidney complications in Alport syndrome start with the invasion of the small blood vessels of the kidneys by the projections of mesangial cells, showed a study conducted in a dog model.

A new mutation causing the autosomal dominant form of Alport syndrome has been identified in a Chinese family, reports a study published in the Indian Journal of Medical Research.

Researchers in China identified a new mutation causing Alport syndrome. This knowledge can help better diagnose the condition in the future.

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.

Podocyte depletion might be driving the progression of both Alport syndrome and thin glomerular basement membrane disease (TGBM), according to a study published in the scientific journal PLOS One. Therefore measuring podocyte density in kidney biopsies could provide a quantitative readout describing the risk of progression of the conditions event before pathologic changes appear. Moreover, reducing podocyte depletion could have therapeutic effects in Alport syndrome.

Researchers from Japan identified a new mutation in a gene called COL4A5, which causes Alport Syndrome. The mutation was identified in a two-year-old Japanese girl and her mother.