Genetic mutation associated with steroid-resistant nephritic syndrome identified

Patients with nephritic syndrome exhibit an array of symptoms that are associated with loss of kidney function, including excess protein in urine, swelling, and albuminuria. Many nephritic syndrome patients respond well to treatment with steroids; however, subsets of patients are resistant to steroid treatment and are at high risk of kidney failure. Recent studies have identified single gene mutations that are associated with development of steroid-resistant nephritic syndrome; however, these mutations account for approximately half of all steroid-resistant cases.