Despite the progress in autosomal dominant polycystic kidney disease (ADPKD) management, patients continue to experience challenges, according to new research presented virtually during the National Kidney Foundation 2021 Spring Clinical Meetings.

Kristin Leonberg, MS, RD, and colleagues from Sanofi Genzyme in Cambridge, Massachusetts, conducted a survey and telephone interview of 83 patients (mean age 47 years; 24 male) from the United States, United Kingdom, Germany, France, Brazil, and Japan during 2018 to 2020. Clinicians often did not associate the various signs and symptoms with ADPKD. More than half of respondents initially presented with hypertension and heart disease risk factors (81%); acute or chronic flank, abdominal, or back pain (78%); bladder or urinary tract infection or hematuria (66%); fatigue (64%); kidney cysts, infections, stones, growth, or failure (58%); or liver cysts producing nausea and early satiety or increased liver enzymes (51%). Less common symptoms included depression and anxiety (49%); bruising (44%); edema (25%); breathing problems (24%); stroke or aneurysm (12%); or uterine cysts (3%).

Only 50% of patients had symptoms that led to ADPKD diagnosis, most commonly pain, urinary tract infection, and hematuria. Another 25% sought a diagnosis because of family history, but genetic testing was relatively uncommon. For 25% of patients, ADPKD was discovered incidentally during a scan for pregnancy, injury, or other reasons. Mean age at diagnosis was 34 years.

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By 2020, 8 in 20 American patients received periodic imaging. Treatment included lifestyle modification, supportive management (eg, antihypertensives, antibiotics, analgesics), mental health treatment, and advanced interventions that included dialysis, transplant, or tolvaptan. Fourteen patients were concerned about liver damage or side effects such as frequent urination from tolvaptan, an aquaretic indicated to slow kidney function decline in patients at risk of rapid ADPKD progression.

“The results of these patient interviews highlight the continued need for educating health care providers around accurate risk assessment for patients with ADPKD,” Leonberg and colleagues wrote. “Despite significant advances in diagnosis, monitoring, management and availability of disease-modifying agents, an unmet need persists for a well-tolerated therapeutic option for patients at risk of rapidly progressing disease.”

Disclosure: This clinical trial was supported by Sanofi Genzyme, Cambridge, Massachusetts. Please see the original reference for a full list of authors’ disclosures.


Leonberg K, Barakov K, Hariri A, Maski M. ADPKD patient perspectives on diagnosis and management. Presented at the virtual National Kidney Foundation 2021 Spring Clinical Meetings, April 6-10, 2021. Poster 313.