Michigan researchers reported the rare case of a 7-year-old boy with a foodpipe abnormality stemming from his Alport syndrome. About 5 percent of Alport patients develop a condition called diffuse leiomyomatosis. Its hallmarks are an abnormal increase in the number of smooth muscle cells that facilitate certain functions in the…
David Curtis Glebe, a retired 64-year-old public prosecutor now living in Millsboro, Delaware, knows he’s lucky to be alive. In mid-2013, while in Arizona, Glebe was diagnosed with pancreatic neuroendocrine cancer (PNET) — the same disease that killed Apple’s founder and CEO Steve Jobs. After three years of progress…
This week marks the launch of the “7,000 Mile Rare Movement,” a nationwide effort to raise money for research into the 7,000 known rare diseases that afflict at least 30 million Americans. The campaign kicks off Feb. 1 and culminates with Rare Disease Day on Feb. 28. Organized by…
Spontaneous rupture of the anterior lens capsule of the eye is a serious complication of Alport syndrome that can be prevented with timely and proper care, a case report published at Open Access Macedonian Journal of Medical Sciences highlights. Alport syndrome, a progressive disorder, is caused by genetic mutations…
Platelet dysfunction due to renal diseases such as Alport syndrome can be effectively reversed with a successful kidney transplant, according to a study published in the Clinical Kidney Journal. It is common for patients with end-stage renal disease (ESRD) to experience bleeding, more frequent bleeding into the skin,…
Evidence suggesting that bardoxolone methyl can delay kidney failure has surfaced in a re-analysis of data from a clinical trial in diabetics that was terminated over safety concerns, Reata Pharmaceuticals reports. The original analysis of the Phase 3 BEACON clinical trial results indicated that the treatment had no effect on end-stage…
Researchers report that mutations in kidney genes not involved in collagen production may worsen the severity of Alport syndrome. The study may provide an explanation as to why Alport patients can have widely varying disease severity. A specific mutation in the LAMB2 gene, which is linked to the genetic disease…
The Alport Syndrome Foundation, Pedersen Family and Kidney Foundation of Canada are calling for research proposals for 2018. Their funding program is for studies with the potential to improve patients’ kidney failure and hearing loss. Priority will be given to projects that target pathways in the disease’s progression or that…
Women with X-linked Alport syndrome may develop severe disease progression. But the type of mutation a patient carries does not predict the disease’s severity, and physicians should pay careful attention while monitoring and treating women with X-linked Alport syndrome, according to a study from the Kobe University Graduate School of…
A number of important discoveries, treatment developments, and other events related to Alport syndrome were reported by Alport Syndrome News during 2017. Now that the year is over, let’s take a quick look at the articles that appealed most to our readers. Here are the 10 most-read articles of 2017, with…
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