Polycystic Kidney Disease Definition, Reason, Symptoms, Treatment & Prevention
Definition
Polycystic comes from two words, namely ‘poly’ which means many and ‘cystic’ which means an abnormal cavity containing fluid. Based on this combination of words, the meaning of polycystic kidney disease (PKD) is a genetic disease characterized by the presence of many cysts in the kidneys.
Polycysticism can exist in two forms, namely the adult form which is autosomal dominant and the child form which is autosomal recessive. This form of children is less common.
Autosomal dominant polycystic kidney disease is the type that is usually inherited. Symptoms usually appear between the ages of 30 and 40, but can appear earlier, even in childhood. Approximately 90% of PKD cases are autosomal dominant PKD.
Symptoms
There are several symptoms that can be found in patients with polycystic kidney disease, such as:
- Abdominal pain. Pain that is felt is dull in the lumbar region.
- Hematuria can occur when a cyst ruptures and causes bleeding that can enter the renal pelvis and then be seen as reddish urine.
- Hypertension can be found in the form of end-stage renal complications
- Kidney enlargement. In some cases, there is a palpable enlargement of the kidney on physical examination.
- Cysts on other organs. In cases of autosomal dominant polycystic kidney disease, cysts can be seen in other organs such as the liver and pancreas.
Reason
In the case of autosomal recessive polycystic kidney, the cause is an unidentified gene mutation on chromosome 6p. Serious manifestations are usually present at birth and infants die quickly from kidney failure.
Whereas in the case of autosomal dominant polycystic kidney, the cause is a mutation in the PKD1 and PKD2 genes. The cause of cyst formation is thought to be a failure of fusion between the glomerulus and tubulus resulting in fluid collection.
Diagnosis
Determining the diagnosis of polycystic kidney disease requires a medical interview, physical examination, and supporting examinations. In medical interviews, patients with polycystic kidney disease may complain of abdominal pain. However, in the early stages, this disorder may not cause any symptoms at all.
Some of the symptoms appear in middle age because of the cyst’s enlarged size and swelling. Bleeding cysts can cause bleeding when urinating.
Kidney ultrasonography (USG) examination can be done to determine the size of the kidneys and detect cysts. Ultrasound can detect kidney cysts 1–1.5 cm in diameter. Meanwhile, Magnetic Resonance Imaging (MRI) examination is more sensitive and can identify kidney cysts that have a diameter of 3 mm.
Treatment
The goal of treating polycystic kidney disease is to prevent a decrease in kidney function that can lead to kidney failure. Treatment of polycystic kidney disease is usually supportive.
Treatment of risk factors in the form of preventing high blood pressure is needed. In cases with end-stage renal failure, renal replacement therapy, such as hemodialysis or kidney transplantation, may be considered.
Prevention
Because it is inherited or genetic, there is no way to prevent polycystic kidney disease.