Neera Dahl, MD, Identifies how to Diagnose Autosomal Dominant Polycystic Kidney Disease


The common inherited condition autosomal dominant polycystic kidney disease (ADPKD) remains elusive when presented in primary care due to its nonspecific symptoms.

This year at Pri-Med Midwest 2022, Neera Dahl, MD, PhD, spoke about a common condition that remains elusive when presented in primary care. It's estimated that 1 in 500-1000 individuals are living with autosomal dominant polycystic kidney disease (ADPKD).

The inherited condition can go unnoticed until cysts become large enough to impact kidneys, which could be later in life.

"If you think about the size of your primary care practice, you're likely to have a few patients already that have ADPKD," Dahl said in an interview with HCPLive. "What we worry about from a nephrology perspective is that, often those patients, particularly in their early time course, are undiagnosed. So, they may be complaining of flank pain, or back pain, or have some nonspecific findings."

The major symptoms of ADPKD can be commonly mistaken for a variety of other conditions, or vague, commonly experienced pain.

"That could be an early sign that they actually have the disease, but they're getting missed," she continued," and they may not get imaging until they've developed fairly significant kidney disease and/or loss of kidney function."

Dahl further detailed some of the indicators to help identify these cases. When seeing relevant symptoms, the next step should include imaging, because with earlier diagnosis, progression can be managed from there.

"As the cysts grow they cause different problems. So, the earliest sign that there's a disease is the development of high blood pressure," she emphasized. "Someone who has high blood pressure, particularly at a young age, might be someone who has ADPKD."

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