BOCA RATON, Fla. – Polycystic Kidney Disease, or PKD, is one of the most common genetic disorders, affecting over a half million American men and women equally and it’s the fourth leading cause of kidney failure.
From an early age, Jeffrey Pupo knew he was at risk for PKD.
Both his mother and grandfather were affected by the disease and genetic testing some 20 years ago revealed it too had PKD.
“At the time I was 32 I was always young and healthy and in shape and it was always monitored but prior to that it was kind of out of sight out of mind. It never came up but it was always something like ‘it’ll never happen to me’,” Pupo said.
Dr. Shane Bobart, a nephrologist with Cleveland Clinic Weston, says the disease, which leads to an overgrowth of cysts in the kidney’s, is typically diagnosed through imaging.
“We look at cysts in the kidneys with a kidney ultrasound, CT scan or MRI and when the diagnosis is in question, genetic testing can be done because there are several genes that have been identified that are causative,” said Dr. Shane Bobart, a nephrologist with Cleveland Clinic Weston.
While polycystic kidney disease can be managed for some time, there is no cure and patients will face the need for dialysis or a kidney transplant.
“If the cysts get big enough, they can cause discomfort, pain, they can rupture you can see blood in the urine, you can often get things like kidney stones,” Bobart said.
Ultimately, Pupo was matched with a living donor and underwent a transplant in the summer of 2020.
It’s a gift he celebrates not just during the holidays but every day of the year.
“My physical and mental focus is as good if not better than 32 when I was diagnosed In regards to the spiritual it’s ‘oh my god’ in 2020 the year of Covid, a stranger gave me life,” Pupo said.
Newer medications are helping to slow the progression of the disease, allowing patients more time before needing more invasive therapy or surgery.