A visit to the doctor for a nosebleed may have saved the life of a teen and 2 other members of her family.
Following a serious nosebleed, Crystal Enns was diagnosed with a serious kidney disease called juvenile nephronophthisis, a disorder that affects the kidneys, characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.
Nephronophthisis eventually leads to end-stage renal disease (ESRD), a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Nephronophthisis can be classified by the approximate age at which ESRD begins: around age 1 (infantile), around age 13 (juvenile), and around age 19 (adolescent).
About 85 percent of all cases of nephronophthisis are isolated, which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs inside the body (situs inversus).
According to Dr. Albert Quan, the pediatric nephrologist at Medical City Children’s Hospital in Dallas who treated Crystal, the nosebleed was in no way related to the rare kidney disease; it was discovered with standard lab tests instead.
“This kidney disease doesn’t get better,” Quan told ABC News. “The best we can do is slow the decline. In mid- to late-adolescence you either have … to put her on dialysis or you have to get her a kidney transplant.”
Crystal’s parents were immediately tested if they were possible matches, but the bad news for the family didn’t stop there. Their abilities to be donors were negated as both of them were diagnosed with kidney cancer. Luckily, the cancer was caught so early that both parents were able to be operated on and did not need chemotherapy. It was such a rare case that both parents would be diagnosed with cancer during donor screenings. Dr. Quan said that further tests are being done with a geneticist to determine if there was any possible genetic factor that could have affected both the parents’ and Crystal’s kidneys.
“If anyone is considering organ donation, but they have fears about if it is safe to do so … take courage,” wrote Mrs. Ennsin an email to ABC News. “Being screened as a donor could be a win-win for you. … Either you are able to save someone else’s life, or you could end up finding out about a health issue in your own life that you may never have known about otherwise.”
Source: ABC News
