As with any hereditary condition, even those family members who have not developed the disease are plagued by questions and uncertainty. An article published in the Journal of the American Society of Nephrology in 2018 explains how autosomal dominant polycystic kidney disease (ADPKD) can affect even those family members who are clinically “unaffected.”

How are asymptomatic family members affected by ADPKD?

Family members of those living with ADPKD are still faced with the questions of:

• whether or not they carry the disease gene,
• whether or not they can pass it on or perhaps already have,
• how involved they need to be in their affected family members’ care, and
• whether or not they can and should become kidney donors.

Some of the answers to these questions will depend on such factors as the:

• pattern of heredity, 
• nature of the disease and its treatments, 
• age at onset of kidney failure, and 
• ease of detection. 

What are the chances of developing symptoms with the gene?

In medical genetics, penetrance refers to the percentage of people with a given disease gene mutation who will develop clinical symptoms of that disease. ADPKD has a penetrance of nearly 100%, meaning that nearly 100% of people with the ADPKD gene develop symptoms. 

Fortunately, people can live with ADPKD for many years, as kidney failure does not generally occur until the ages of between 50 and 70. Living with the disease, however, can pose numerous challenges, which may be complicated by other health conditions. 

What are some complications of ADPKD? 

Complications of ADPKD prior to kidney failure may include the following:

• Hypertension
• Pain
• Infection
• Hemorrhage
• Abdominal protuberance and distortion
• Intracranial aneurysms
• Hepatic cysts

Diagnosing ADPKD before the onset of complications is desirable for many reasons, including preventative measures and planning. For families with a history of a ruptured intracranial aneurysm, early detection of ADPKD enables screening for unruptured aneurysms. 

Screening recommendations

According to a 2015 Kidney Disease: Improving Global Outcomes (KDIGO) conference, presymptomatic ADPKD screening is not recommended for at-risk children—but is for at-risk adults. Screening is usually done using ultrasonography, an inexpensive and widely-accessible method.

ADPKD can be reliably detected in most young adults before the onset of symptoms. In many cases, those young adults may want to know their risk of transmitting the disease to their children. For those with ADPKD, the mutation can be detected in the embryo. 

Treatment for ADPKD

While there is currently no cure for ADPKD nor any way to stop the cysts from forming, there are several treatments available, which include both cyst removal and medications to manage blood pressure, relieve pain, and slow cyst growth.

When kidney failure occurs, living donor kidney transplantation is preferable. Due to the widespread symptoms throughout families with the disease, however, it can be difficult to find enough family members without the disease to donate kidneys for those members in need. 

Arrangements for multiple kidney donations and transplantations in advance of kidney failure requires the collective efforts of family members and a diverse team of experts.

Counseling for families with ADPKD

Genetic testing and participation in clinical trials have contributed significantly to the understanding and treatment of ADPKD. Unfortunately, there are barriers to counseling that would inform at-risk individuals about these options.

These barriers include: 

• Nephrologists may be too busy with patients who have more immediate needs. 
• Primary care physicians may lack adequate knowledge concerning ADPKD. 
• Reimbursement may be restricted for counseling, ultrasound exams, genetic testing, and donor and recipient assessment for transplantation. 
• Patients may hesitate to inform family members that they are at risk. 
• Family members may fear a diagnosis will render them uninsurable.

Knowledge is necessary for informed decision-making by current patients and their families, as well as for future generations. 

*Falke, R. M. & Levey, A. S. (2018, Oct.). Hereditary Kidney Disease: All Family Members Are Affected. Journal of the American Society of Nephrology. https://jasn.asnjournals.org/content/29/10/2451