Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis (PKDTS)

1. Causes of the disease

The disease is a rare condition that has characteristics of both polycystic kidney disease (PKD) and tuberous sclerosis (TS), and is usually caused by a genetic mutation. PKDTS causes numerous cysts to form in the kidneys, while tuberous sclerosis can affect the skin, brain and other organs.

2. Symptoms

• Kidney abnormalities : Renal dysfunction and kidney cysts may occur early and may lead to kidney failure.
• Symptoms of tuberous sclerosis : Nodules on the skin, nodules or tumors in the brain may be seen.
• Developmental delays : There may be delays in speech and motor development.
• Epilepsy : Epileptic seizures have been reported in some patients.
• Skin changes : Characteristic skin spots or growths may be seen.

3. Treatment

• Renal management : Treatment is given to maintain renal function and, if necessary, dialysis or kidney transplantation may be considered.
• Epilepsy management : Antiepileptic drugs may be prescribed.
• Treating tuberous sclerosis : Drug therapy and/or surgery may be used to control certain tumors.

4. Prognosis

The prognosis depends on the severity of the condition and whether there are any complications, but there are treatments that can slow the progression of kidney failure. Managing the overall progression of the condition is key.

5. The burden on parents

The need for long-term medical care, maintaining kidney function and managing tuberous sclerosis can place a heavy financial and psychological burden on patients, so it is important to work with support groups and medical professionals to receive optimal care.