17q12 Deletion Syndrome

1. Causes of the disease

17q12 deletion syndrome is caused by a deletion of the long arm of chromosome 17 (17q12 region). Deletions of genes in this region can affect neurodevelopment, endocrine function, and renal function. It usually occurs as a de novo mutation, but can also be inherited.

2. Symptoms

• Renal abnormalities : Renal cyst formation and decreased renal function may be seen.
• Diabetes : You may develop juvenile diabetes.
• Developmental delays : There may be delays in language and motor skills.
• Behavioral problems : Autism-related behaviors, attention deficits, and hyperactivity may be present.
• Epilepsy : Epileptic seizures have been reported in some patients.

3. Treatment

• Renal Management : Renal function needs to be monitored and managed and in some cases kidney transplantation may be necessary.
• Diabetes management : Insulin therapy and blood sugar control are performed.
• Developmental Support : Developmental support is provided using speech therapy, physical therapy, and occupational therapy.
• Epilepsy Management : Antiepileptic drugs are used as needed.

4. Prognosis

Early diagnosis and appropriate medical management can improve patients’ quality of life, but long-term support is required to manage kidney function and diabetes.

5. The burden on parents

The need for medical support, including kidney and diabetes management, can place a great burden on parents. Linking up with support groups and specialists and getting family support is important.