Genetic/Familial Diseases

While there are various causes of chronic kidney conditions, including diabetes and hypertension, some individuals may develop conditions due to a host of genetic or familial factors. Alport Syndrome and Polycystic Kidney Disease (PKD) are two examples of genetic/familial diseases that can lead to chronic kidney disease (CKD).

Alport Syndrome

Alport Syndrome is a hereditary condition caused by mutations in genes responsible for collagen production in the kidneys. This collagen, particularly type IV, is vital for the normal function of the glomeruli, the kidney structures that filter the blood. The damage caused to the kidneys' filtration system leads to a progressive loss of kidney function in those with Alport Syndrome.

The symptoms of Alport Syndrome vary among individuals, often becoming evident in childhood or adolescence. They may include:

• Hematuria (blood in urine)
• Proteinuria (protein in urine)
• High blood pressure
• Edema (swelling in parts of the body)

Over time, patients may also experience hearing loss and eye abnormalities.

Diagnosis of Alport Syndrome typically involves a combination of clinical evaluation, detailed patient history, and specific diagnostic tests. Diagnostic testing may include urinalysis to detect blood or protein in the urine, genetic testing to identify mutations in the relevant collagen genes, and kidney biopsy to examine the structure of the glomeruli. Early diagnosis of Alport Syndrome is crucial, as it enables timely management to slow disease progression and mitigate symptoms.

Polycystic Kidney Disease (PKD)

Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of numerous cysts filled with fluid in the kidneys. These cysts can lead to the enlargement of the kidneys and disrupt their normal functioning. There are two types of PKD: Autosomal Dominant PKD (ADPKD) and Autosomal Recessive PKD (ARPKD). While ADPKD is often diagnosed in adulthood, ARPKD is typically identified in infants and children.

Symptoms of PKD include:

• High blood pressure
• Back or side pain
• A feeling of fullness in the abdomen
• Blood in the urine
• Kidney stones
• Urinary tract infections

In some cases, individuals with PKD may also develop liver and pancreatic cysts.

Diagnosis of PKD is typically made through imaging tests such as ultrasound, CT scan, or MRI to visualize the kidneys and detect the presence of cysts. Genetic testing can also be used to identify mutations associated with PKD.

Management of PKD is focused on controlling symptoms and slowing the progression of the disease. This could involve controlling high blood pressure, managing pain, and promptly treating urinary tract infections. In severe cases, dialysis or kidney transplantation may be necessary. As with Alport Syndrome, early diagnosis and management of PKD are crucial to preserving kidney function and quality of life.

Genetic/Familial Kidney Conditions Care in Massachusetts

For expert and comprehensive care related to kidney diseases in the Boston region, consider Commonwealth Nephrology Associates. With our seven strategically situated clinics in Norfolk, Natick, Marlborough, South Weymouth, Dorchester, Norwood, and Attleboro, Massachusetts, we strive to make our services easily accessible. To book an appointment, contact us at (617) 739-2100, or you may prefer the convenience of scheduling your visit online through our secure online form.