Quick Case Study

Young Woman Faces Challenges of Polycystic Kidney Disease

Nephrology
By
Tim Pittman
Published
October 11, 2016

This color enhanced axial (cross sectional) CT, through the upper abdomen with oral contrast, shows extensive cysts (brown) within the liver which is enlarged. You can see the enlarged liver bulging towards the anterior abdominal wall. This condition is often autosomal dominant in inheritance and is often associated with cystic disease of the kidneys. The incidence of cystic change increases with age. Development of symptoms may be due to the associated mass effect on surrounding structures or associations with other abnormalities.
Following a diagnosis of autosomal-dominant polycystic kidney disease (ADPKD), a 22-year-old recent college graduate was referred to Duke nephrologists by her primary care physician. To the accomplished young woman who had earned a competitive national scholarship for college, the diagnosis and prospect of long-term dialysis was daunting and discouraging.

Questions: What recommendations did the nephrologists make regarding her treatment? What steps were taken to offer reassurance about her long-term health and longevity?

View case conclusion  

Answers: The renal challenges of multiple cysts from ADPKD required that the nephrologists review the possibilities and options for dialysis and transplant with the patient as she faced the stages of the disease. A multidisciplinary team simultaneously initiated planning for transplant when her kidney function fell to 20%, the earliest point at which an evaluation can take place. After 3 years on dialysis, the patient underwent a successful transplant.

Under the guidance of a coordinated care team, the patient recovered with excellent outcomes. She began to focus again on her goals of academic achievement: She was recently accepted into a graduate program at an Ivy League university.

Because she concentrated on her care and was adherent to treatments, the young woman was considered an excellent candidate for transplant.

“This is a good example of a young, motivated patient who demonstrated a commitment to overcoming a challenging genetic condition,” says Eugene C. Kovalik, MD, a nephrologist who worked closely with the patient. “Just because you develop chronic kidney disease in your early 20s doesn’t mean your life has to be limited.”

Given the patient’s age, transplantation afforded the most appropriate long-term care option to help her reclaim a high quality of life and more normal longevity, Kovalik says.

Duke’s nephrology and transplantation teams helped turn a discouraging diagnosis into a positive medical and personal outcome, Kovalik says. The patient’s perspective made a difference as well, he noted.

“She brought a lot of personal energy and an upbeat attitude as she approached the treatment and eventual transplant,” Kovalik says. “For such a challenging diagnosis, she’s enjoyed a remarkable outcome.”