| Dr. Fatih Ozaltin and his team from Ankara's Hacettepe University discovered a "PTPRO" gene which causes end-stage renal failure in children, as part of a project funded by EU'S 6th Framework Program and the Scientific & Technological Research Council of Turkey (TUBITAK).
Turkish scientists detected the gene while examining families with a history of first-degree consanguineous (blood-related) marriage.
The study named "Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome" has been published in the latest edition of The American Journal of Human Genetics as well.
Speaking to AA on the study, Ozaltin said the discovery would help physicians diagnose and treat patients with mutation of the PTPRO gene at early phases, and eventually slow-down the progress of or even prevent end-stage kidney failure.
End-stage kidney disease is the complete or almost complete failure of the kidneys to function. The failure usually occurs when chronic kidney disease has worsened to the point at which kidney function is less than 10 percent of normal. Patients who have reached this stage need dialysis or kidney transplant.
In Turkey, consanguineous marriage is a major cause of the disease in children. |
