Cystic Kidney Diseases in Children

1- Multicystic Dysplastic Kidney

It is the formation of many irregular cysts resembling a bunch of grapes as a result of abnormal development of the kidneys during pregnancy. It usually occurs in one kidney, and that kidney does not function. The other kidney is larger than normal.

How Is Multicystic Dysplastic Kidney Diagnosed?

It is often diagnosed with ultrasound examinations during pregnancy. The condition is clarified with ultrasound examinations after birth. In some cases, whether the multicystic kidney is functioning is evaluated with renal scintigraphy.

What Are the Treatment Approaches for Multicystic Dysplastic Kidney?

It is not a treatable condition. Often, the cystic kidney shrinks and disappears over time. The patient continues life with a single kidney. If the non-functioning kidney does not disappear, it needs to be removed with a minimally invasive surgical method.

At İzmir Özel Can Hastanesi, through the multidisciplinary work of experienced specialists in our pediatrics and urology clinics, all the diagnostic and treatment methods needed to protect the patient's health and allow them to continue their normal life are successfully applied.

2- Polycystic Kidney Disease

What is polycystic kidney disease?

Polycystic kidney disease is a genetic disease in which the kidneys are filled with many enlarged, fluid-filled cystic structures. These cysts can reduce kidney function and lead to kidney failure. People with this disease may also have cysts in their liver. Other problems may also occur in other organ systems, such as the blood vessels in the heart and brain. According to the results of different studies, autosomal dominant polycystic kidney disease occurs in one in 400 to 1,000 live births. It is seen equally in men and women. As a feature of autosomal dominant inheritance, if one parent has the disease, the risk of passing it on to the child is 50%. In the autosomal dominant inherited form, about 50% of patients progress to kidney failure around the age of 60.

What Are the Different Types of Polycystic Kidney Disease?

There are two different inherited forms, autosomal dominant and autosomal recessive, and one non-inherited form.

Autosomal Dominant Inherited Form

This is the most common inherited form of polycystic kidney disease, and about 90% of all patients are in this group. Autosomal dominant inheritance means that if one parent has the disease, there is a 50% chance that their children will have it. Girls and boys are affected equally. These cases are usually diagnosed in adulthood. In 10% of cases there may be no family history. These are caused by new mutations.

In autosomal dominant polycystic kidney disease, although the disease begins in childhood, it usually causes symptoms around the age of 30–40. These can be listed as follows:

• Abdominal pain
• A palpable mass in the abdomen
• Pale skin
• Easy bruising
• High blood pressure
• Kidney stones
• Aneurysms in the blood vessels of the brain (ballooning of blood vessels, which can lead to sudden rupture of the vessel wall and bleeding as a result of damage)
• Diverticulosis
• Urinary tract infection
• Hematuria
• Cysts in the liver and pancreas
• Abnormal heart valves

Autosomal dominant polycystic kidney disease may be accompanied by other diseases:

• Tuberous sclerosis (a genetic syndrome that includes seizures, intellectual disability, benign tumors and skin lesions)
• Liver disease
• Serious eye problems

With these signs and symptoms, autosomal dominant polycystic kidney disease can be confused with other diseases. For this reason, you must see your doctor for a differential diagnosis.

In autosomal dominant polycystic kidney disease, the diagnosis is made by detecting these cysts in the kidneys and other organs and by taking a family history. Genetic diagnostic tests are also available.

Treatment may include:

• Painkillers
• Surgical treatment to shrink the cysts and relieve pain
• Blood pressure-lowering medications
• Medications for urinary tract infections
• Dialysis
• Kidney transplantation may be performed, and these medications may be given.

Autosomal Recessive Inherited Form

The autosomal recessive inherited form is quite rare. A child who receives one gene from a carrier mother and one from a carrier father has the disease. The rate of occurrence in the children of carrier parents is 25%. Girls and boys are affected equally. It can sometimes be detected with fetal ultrasound while the baby is still in the womb.

In autosomal recessive polycystic kidney disease, symptoms may begin before birth. The earlier the disease begins, the more severe its course.

Autosomal recessive polycystic kidney disease is divided into 4 types:

• Perinatal form (appears at birth)
• Neonatal form (appears in the first month of life)
• Infantile form (appears between 3 and 6 months)
• Juvenile form (appears after 1 year of age)

Children born with autosomal recessive polycystic kidney disease progress to kidney failure within a few years, and the following findings are often seen:

• High blood pressure
• Urinary tract infection
• Frequent urination

The disease also often affects the liver, spleen and pancreas, and can cause low blood cell counts, varicose veins and hemorrhoids. With these signs and symptoms, autosomal recessive polycystic kidney disease can be confused with other diseases. For this reason, you must see your doctor for a differential diagnosis.

The diagnosis is made by detecting cysts in the kidneys with ultrasound performed in the fetal or newborn period. It is also useful to perform ultrasound on close family members.

After the diagnosis, your doctor will plan the most appropriate treatment for your child. Treatment may include:

• Blood pressure-lowering medications
• Medications for urinary tract infections
• Hormonal therapy
• Dialysis
• Kidney transplantation may be performed, and these medications may be given.

3- Acquired Cystic Kidney Disease (Non-Inherited Form)

Acquired cystic kidney disease usually appears later in life. It can occur in people with long-term kidney problems, such as patients with kidney failure who have been on dialysis for a long time. Cysts are also often seen in other organs such as the liver and pancreas.