Hereditary Kidney Disease

If your family has a history of kidney disease, you may be at a greater risk for hereditary kidney disease. There are many conditions that fall under this umbrella term, and at Northeast Ohio Nephrology, we help to treat many of them. Here we will discuss what you need to know about hereditary kidney disease.

What Is Hereditary Kidney Disease?

As with any other inherited condition, hereditary kidney disease is something that is passed from parent to child. It can be inherited from one or both parents, and could show up early or later in life. Without proper treatment, hereditary kidney disease can progress to chronic kidney disease (CKD) and even kidney failure. 

Common conditions that are grouped together as being hereditary kidney diseases include:

• Polycystic kidney disease (PKD): fluid-filled cysts in the kidneys enlarge, damage kidney tissue, and impair function

• Alport syndrome: a rare genetic mutation that affects collagen and compromises the structure and function of the kidneys

• Nephronophthisis: inflammation leads to scarring (fibrosis) and cysts in the kidney tubules, contributing to eventual kidney failure

• Cystinosis: a metabolic disorder that causes the accumulation of cystine, leading to kidney damage

• Fabry’s Disease: the body's ability to break down certain fats is impaired, leading to damage in multiple organs, including the kidneys

Hereditary kidney diseases require expert medical diagnosis and effective treatment to manage the condition and prevent ongoing damage to the kidneys. 

Symptoms Of Hereditary Kidney Disease

Symptoms of hereditary kidney disease can vary, based on the root cause of the condition. In general, most conditions will manifest in symptoms such as:

• high blood pressure

• blood or protein in the urine

• pain in the back or side

Other signs to keep on the lookout for, especially if paired with the former three symptoms, are:

• frequent headaches and/or drowsiness

• enlarged, heavy abdomen

• frequent urinary tract infections

• swelling in the feet and ankles

• loss of appetite

• itchy skin

• muscle cramps

• kidney stones

Those with Alport syndrome, which affects collagen production, may also experience hearing and vision problems, in addition to those discussed above. 

If you experience any of these symptoms, and especially if you also have a family history of kidney disease, it is imperative that you see a nephrologist. They can work with you to assess your condition and run testing to get a positive diagnosis. Once you know which condition you have, you can work with your healthcare provider to seek treatment.

Causes Of Hereditary Kidney Disease

As we’ve established, hereditary kidney diseases are directly linked to genetic information passed down from parent(s) to child(ren). They can manifest in various ways and due to a range of factors, but they all stem from genetic mutations or other related issues that are inherited from previous generations. Hereditary kidney diseases can be divided into several groups based on how they are transmitted. This can be a complex topic, but suffice it to say that even parents who do not have a condition can carry the genetic material to convey it. If both individual parents share that genetic data, when they have a child, the chance of their child having a form of hereditary kidney disease increases. Other forms can be directly linked to the X chromosome and so affect certain genders more often than others.

Treating Hereditary Kidney Disease

Your primary care provider or a Nephrologist can determine whether the symptoms you are experiencing line up with a specific disorder. They can also learn whether a disorder has a genetic component by asking for the health history of first-, second, and third-degree relatives. Once DNA testing and other assessments have been completed and you are given a diagnosis, treatment designed for your specific condition can begin.

More than a direct curative treatment, a patient with hereditary kidney disease needs to focus on condition management, slowing disease progression, and supportive care. The medical community is always working on cures, but until these are readily available, the focus is on overall health and wellness and preventing the condition from getting worse. Efforts can include medications to reduce cyst growth and control blood pressure, lifestyle and diet changes, and therapies like dialysis or a kidney transplant in more advanced cases. 

Your Local Nephrologist in Akron, Ohio

At Northeast Ohio Nephrology Associates, Inc. we are here to help individuals dealing with chronic kidney conditions, like hereditary kidney disease. Our skilled nephrology doctors can help to develop personalized treatment plans and provide cutting-edge therapy options, all while assisting with practical needs, like lifestyle modification, education, and patient support. Contact us today to learn how you can become a patient and begin your journey to better kidney health!