Physicians at the University of Florida have been able to identify a mysterious disease, lupus, which leads to a self-induced attack by the immune system on itself. The disease is also characterized by a warning signal sent for alerting doctors at the onset of its worst symptoms.

According to the Lupus Foundation of America, doctors are still not sure when it comes to identifying which all of their patients affected have this unpredictable autoimmune disorder lupus with life-threatening aspects.

From News-Medical.Net:

Now doctors with the Center for Autoimmune Diseases at the UF Health Science Center have identified a protein that shows up in markedly increased levels in the urine of lupus patients with kidney disease, and have located the variant of the gene that overproduces the protein. The researchers say this will eventually enable doctors to use a simple urine test to look for the presence of the protein as an early indicator of the development of kidney disease. And in article published this month in Arthritis and Rheumatism, the scientists say the findings also could open a door to the development of preventive treatments, or less toxic treatments that could be given early in the course of the disease.

“All we can do now is quote newly diagnosed lupus patients the statistics for the chance of kidney disease,” said article co-author Dr. Hanno B. Richards, co-director of UF’s Lupus Clinic. “We can offer detailed genetic testing and assess what the likelihood of the disease might be. But with MCP1 (protein), we can screen for the levels in the urine and base our need for treatment on that.”

Lupus is a disease that is characterized by an overactivity of immune system of the body. Doctors, all over the world, normally prescribe immunosuppressant drugs for kidney disease treatment, including steroids, to treat this complication.

Tags:  genetic testing, kidney disease, lupus, mysterious disease, Steroids

Posted in  Steroids | No Comments/Questions

Recessive mutations in a gene called phospholipase C epsilon or PLCE1 could result in a to a severe, early-onset form of kidney disease and renal failure in children, a previously unknown cause. This finding was disclosed by scientists at the University of Michigan Medical School.

Identification of the mutual gene is of interest to the scientists as PLCE1 affects the development of podocytes that are specialized cells playing a vital role in ability of the kidney when it comes to removing waste products from blood and retaining important blood proteins.

From Sciencedaily.com:

Some types of nephrotic syndrome can be treated with steroids or other drugs, but steroid-resistant forms of the disease as a rule do not respond to treatment. Untreated nephrotic syndrome often causes severe scarring and a condition called focal segmental glomerulosclerosis (FSGS), which progresses about 50 percent of the time to end-stage kidney disease and renal failure.

PLCE1 is the seventh gene scientists have found to be involved in different types of steroid-resistant nephrotic syndrome, and the second gene that is expressed in podocytes — specialized cells with octopus-like tentacles surrounding the glomerulus.

Podocytes are currently under intensive study, because scientists believe they play a vital role in the blood filtration process. Identifying genes and proteins that are active in podocytes will help scientists understand how they work.

“We found that PLCE1 is expressed in developing and mature podocytes,” says Hildebrandt. “Most of the PLCE1 mutations we identified apparently prevented podocytes from developing normally in the embryo, so defects were present at birth. A milder mutation seemed to interfere with repair mechanisms in the glomerulus, so defects didn’t show up until later in life.”

Friedhelm Hildebrandt, M.D., the U-M’s Frederick G L Huetwell Professor for the Cure and Prevention of Birth Defects, remarked that this is the first report of infants with two mutuations in recessive gene for steroid-resistant nephrotic syndrome that nevertheless responded to treatment with steroids.

Tags:  kidney disease, mutant gene, steroid, steroid treatment, Steroids

Posted in  Steroids | No Comments/Questions