Polycystic kidney disease

Overview

Polycystic kidney disease (PKD) is a genetic disorder characterized by the development of fluid-filled cysts in the kidneys. Unlike harmless simple kidney cysts, PKD is a serious form of chronic kidney disease that can have significant health complications. The cysts in PKD can grow in size, causing the kidneys to enlarge and disrupt their ability to effectively filter waste from the blood, resulting in a progressive decline in kidney function.
Polycystic kidney disease comes in two types:

• Autosomal dominant polycystic kidney disease (ADPKD): The most common type of PKD is ADPKD. Between the ages of 30 and 50, ADPKD is typically diagnosed in adults, while it can also develop in young children or adolescents. The disease can only be passed to the children if one parent has it. Every child has a 50% chance of developing ADPKD if one parent does. The majority of polycystic kidney disease cases fall within this category.
• Autosomal recessive polycystic kidney disease (ARPKD): Infantile PKD, also known as ARPKD, is an uncommon variation of PKD. In the womb or soon after birth, it leads to abnormal kidney development. The first signs of a condition may not show up until later in childhood or during adolescence.

Consequently, most individuals affected by PKD will eventually require dialysis or a kidney transplant to sustain their kidney function.

Symptoms

Symptoms of polycystic kidney disease include:

• Autosomal dominant polycystic kidney disease (ADPKD):
  • High blood pressure
  • Blood in your urine
  • Headaches
  • Back or side pain
• Autosomal recessive polycystic kidney disease (ARPKD):
  • Enlarged kidneys.
  • Growth failure (low birthweight)
  • Low levels of amniotic fluid may indicate that the baby isn’t making enough urine in the uterus.

It is important to be aware that polycystic kidney disease can often go undetected for extended periods. If any signs or symptoms associated with this condition arise, seeking medical attention is recommended. Individuals with a first-degree relative such as a parent, sibling, or child who has polycystic kidney disease should consult a healthcare professional to discuss the possibility of screening for this disorder.

Causes

Polycystic kidney disease is brought on by abnormal genes, which implies that it typically runs in families. Sometimes a gene will change spontaneously, leaving neither parent with a copy of the modified gene.  But occasionally, genes will randomly change or mutate. PKD can affect people of various ages, races, and ethnicities. Both men and women can get it.