Discover why building ADPKD awareness among healthcare practitioners may lead to early diagnosis and better outcomes for patients.
Diagnosing rare diseases is often a challenge for general practitioners. One rare disease, autosomal dominant polycystic kidney disease (ADPKD), needs early diagnosis to be effectively managed and slowed. Learn more about ADPKD, including why it’s difficult to diagnose and what can be done to improve patient outcomes.
ADPKD is a genetic disorder in which numerous cysts develop in the kidneys. The age of onset varies, but is typically between 30 and 40 years on average.
It is critical for physicians and other healthcare providers to recognize the early indicators and refer patients to a nephrologist (kidney doctor). Symptoms will worsen as the disease progresses and may include:
In ADPKD, high blood pressure occurs alongside kidney enlargement and disease progression, affecting nearly 60% of patients. Aggressively treating hypertension may help prevent ADPKD from progressing to end-stage renal disease. Moreover, early treatment can decrease the risks of patients developing cardiovascular disease from hypertension.
When patients present with one or more symptoms, it is important to ask about their family history. Nearly 50% of children born to a parent with ADPKD will inherit it. However, roughly one in ten ADPKD patients do not have a family history.
Starting conversations and awareness around ADPKD may also help to diagnose the disease early. Earlier testing, such as kidney imaging and kidney function tests, may lead to expedited care from a nephrologist.
More comprehensive community-based screening resources are needed to test patients at risk for kidney disease. Experts and advocates need to develop and implement more formal ADPKD screening guidelines to help providers recognize and understand this rare disease. These guidelines are currently absent from the diagnosis and treatment experience.
*Park, M. (2021, September 8). Diagnosing autosomal dominant polycystic kidney disease. Healio. https://www.healio.com/news/primary-care/20210908/diagnosing-autosomal-dominant-polycystic-kidney-disease
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