Teenager Survives with Rare Genetic Kidney Disease, Awaits Transplant
A 16-year-old is living without kidneys after a rare genetic mutation triggered rapid kidney failure, highlighting the challenges of diagnosing and treating inherited kidney diseases. Wang Rong, of an unspecified location, has been undergoing dialysis for years and is currently awaiting a deceased donor kidney transplant-a wait that has spanned eight years.
The case underscores that genetic factors contribute to kidney disease in a importent minority of patients. Professor Ng, who treated Wang Rong, explained that a genetic research programme revealed between 10 and 15 percent of patients with kidney conditions have a genetic basis for their illness. This revelation led to Wang Rong being tested, ultimately revealing a rare mutation in the TRPC6 gene, identified in 2005, with its exact prevalence still unknown. The mutation caused the drug used to treat him to become toxic as his kidneys deteriorated.
Wang Rong initially managed his condition with dialysis and steroid treatment,allowing him to continue playing with friends. Though, at age 13, he experienced excruciating leg pain, leading to hospitalization and the eventual removal of both kidneys due to waste buildup and infection. Following the double nephrectomy, he suffered severe headaches from fluctuating blood pressure, now controlled with medication.
Living without kidneys requires a highly restricted diet to manage waste and fluids, and strict adherence to a kidney-amiable dialysis plan. Wang Rong must severely limit fluid intake to prevent fluid overload, high blood pressure, and heart failure. He and his parents continue to wait for a suitable kidney donation from a deceased donor.
