An important genetic cause of a devastating kidney disease that is the second leading cause of kidney failure in children has been identified by researchers from Children’s Hospital Boston and Brigham and Women’s Hospital, as per The NephCure Foundation.

This study was published online on December 20, 2009, by Nature Genetics, and is expected to offer insights on development of treatment options for this complication and FSGS (focal segmental glomerulosclerosis).

According to NephCure that helped fund the study, there are approximately 26 million chronic kidney disease patients in the United States alone, of which FSGS is one of the most common forms.

From Sciencedaily.com:

Patients with FSGS are often treated with steroids, which are only partially effective and have very harsh side effects. In addition, they often face several trips a week to the hospital for dialysis, and many require a kidney transplant, along with lifelong treatment with powerful immunosuppressants to prevent organ rejection.

The research team, led by Elizabeth Brown, MD of Children’s Division of Nephrology, working in the laboratory of Martin Pollak, MD of the Renal Division at Brigham and Women’s Hospital, identified the gene by performing a genetic linkage analysis in two large families with FSGS. Linkage analysis is a gene-finding technique that compares affected with unaffected family members, looking for a piece of DNA whose location is already known, and that is inherited only by affected members. Using that piece of DNA as a “signpost,” researchers can then look nearby to find the disease gene.

This study was supported by the National Institute of Diabetes and Digestive and Kidney Diseases, the Clinical Investigator Training Program: Beth Israel Deaconess Medical Center Harvard and Massachusetts Institute of Technology Health Sciences and Technology, Pfizer Inc., Merck and Co., The NephCure Foundation, and the Cole Pasqualucci Nephrotic Syndrome and FSGS Research fund.

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