What specifically is polycystic kidney disease?
PKD is a hereditary disorder characterized by the development of many cysts (fluid-filled sacs) in the kidneys. Along with the enlargement of the cysts, the kidneys also expand. The kidneys gradually lose their capacity to filter waste from the blood, leading to a progressive decline in kidney function and, finally, renal failure. PKD affects around 600,000 persons in the United States. Additionally, PKD may induce cysts in organs such as the liver.
There are two kinds of hereditary PKD:
- The autosomal dominant (or adult) type of PKD is the most prevalent. Typically, symptoms appear between the ages of 30 and 40, however, they might manifest in infancy. If one of the parents possesses the illness gene, the kid has a 50/50 chance of acquiring this type of disease.
- Autosomal recessive PKD is a very uncommon type. The onset of symptoms begins in infancy or perhaps sooner (before birth).
Autosomal Dominant PKD Symptoms
In the early stages of the condition, patients have few, if any, symptoms and reasonably normal blood and urine tests, thus it is possible to overlook the disease until it has advanced. Among the possible symptoms are:
- Discomfort in the back and sides
- Urogenital infections
- Blood detected in the urine (hematuria)
- Cysts of the liver and/or pancreas
- Heart valve dysfunctions
- Elevated blood pressure
- Kidney calculi
- Cerebral aneurysms
Diagnosis
Generally, ultrasonography of the kidneys, CT scans, and MRIs are used to detect autosomal dominant PKD. With age, the frequency and size of cysts grow. Thus, the presence of even two cysts in each kidney of a 30-year-old patient with a family history of the illness is a significant signal of the disease’s presence. Upon onset of symptoms, a genetic test to discover mutations is often confirmed but not always required.
Treatment
There is no treatment for dominant autosomal PKD. The treatment consists of controlling symptoms (pain, headaches, high blood pressure, and urinary tract infections), avoiding complications, and reducing the disease’s course. Renal disease in its last stages and kidney failure need dialysis and transplantation.
PKD autosomal recessive symptoms
This version of the illness manifests extremely early in a child’s life, even before birth. If both parents inherit this disease’s gene, a kid has a 25% chance of having the illness. A kid must inherit two copies of the faulty gene. Before reaching maturity, children with this condition often experience renal failure. In the most extreme situations, babies might die from respiratory failure hours after delivery. In milder situations, the onset of symptoms occurs later in childhood and early adulthood. Scarring of the liver is prevalent in these patients.
- Examples of symptoms include:
- elevated blood pressure
- Urogenital infections
- liver fibrosis
- Reduced blood cell count
- Varicose veins
- stagnant growth
Diagnosis
A fetal ultrasound might reveal enlarged kidneys. As the illness scars the liver, it is also suggested that imaging be performed.
Treatment
There is no treatment for this illness. The emphasis of treatment is on avoiding problems and relieving symptoms. Medication is used to manage hypertension and treat urinary tract infections. The usage of growth hormone may enhance growth. Once renal failure progresses, dialysis and transplantation are required.
When to seek assistance
If you believe your kid has PKD and other members of your family have PKD, see your doctor.