Polycystic kidney, infantile type Save
ICD-10 code: Q61.1
Chapter: Congenital malformations, deformations and chromosomal abnormalities
What is Polycystic Kidney, Infantile Type?
Polycystic Kidney, Infantile Type (PKD-IT) is a rare genetic disorder that affects infants and young children. It is a form of Autosomal Recessive Polycystic Kidney Disease (ARPKD) which is caused by mutation in the PKHD1 gene. This gene provides instructions for making a protein called fibrocystin which is important for the normal development of the kidneys and liver.
What are the Symptoms of PKD-IT?
The symptoms of PKD-IT usually appear within the first few months of life. These include:
- Enlarged kidneys (hepatosplenomegaly)
- High blood pressure (hypertension)
- Urinary tract infections (UTIs)
- Abdominal pain or discomfort
- Poor feeding and growth
- Breathing difficulties
- Frequent urination
- Blood in the urine
How is PKD-IT Diagnosed?
Prenatal diagnosis is possible if there is a known family history of PKD-IT or if the parents undergo genetic testing before conception. After birth, diagnosis is usually based on the presentation of symptoms and imaging studies such as ultrasound, computed tomography (CT) scan, or magnetic resonance imaging (MRI).
What is the Treatment for PKD-IT?
There is no cure for PKD-IT, and treatment is mainly supportive. Management of the disease involves treating the symptoms and complications. Medications may be prescribed to control blood pressure and prevent urinary tract infections. In severe cases, dialysis or kidney transplantation may be necessary.
Conclusion
Polycystic Kidney, Infantile Type is a rare genetic disorder that affects infants and young children. It is important to seek medical attention if your child is experiencing any symptoms of the disease. Early diagnosis and management can help improve the quality of life for affected individuals.