Summary about Disease
Infantile Polycystic Kidney Disease (IPKD), also known as Autosomal Recessive Polycystic Kidney Disease (ARPKD), is a rare, inherited disorder that affects the kidneys and liver. It is characterized by the formation of numerous small cysts in the kidneys, which can lead to kidney failure. Liver involvement, known as congenital hepatic fibrosis, also occurs, causing problems with liver function and blood flow.
Symptoms
Symptoms vary in severity. Some infants are severely affected at birth, while others have milder symptoms that develop later in childhood. Common symptoms include:
Enlarged kidneys (palpable abdominal masses)
High blood pressure
Respiratory distress (due to enlarged kidneys compressing the lungs)
Urinary tract infections
Liver problems (enlarged liver, portal hypertension, esophageal varices)
Growth retardation
Causes
ARPKD is caused by mutations in the PKHD1 gene. This gene provides instructions for making a protein called fibrocystin, which is found in the kidneys, liver, and other organs. Mutations in *PKHD1* disrupt the normal function of fibrocystin, leading to the formation of cysts and the development of liver fibrosis. It is inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene for a child to be affected.
Medicine Used
There is no cure for ARPKD, and treatment focuses on managing symptoms and preventing complications. Medications used may include:
Antihypertensives: To control high blood pressure.
Diuretics: To help remove excess fluid from the body.
Antibiotics: To treat urinary tract infections.
Ursodeoxycholic acid (UDCA): To help improve liver function.
Vasopressin Receptor Antagonists (Tolvaptan): In some cases, may be considered to slow kidney cyst growth (though its use in children is still evolving and requires careful consideration).
Nutritional support: To ensure adequate growth and development.
Is Communicable
No, ARPKD is not communicable. It is a genetic disorder caused by inherited gene mutations.
Precautions
There are no specific precautions to prevent ARPKD, as it is a genetic disorder. Genetic counseling is recommended for families with a history of the disease who are planning to have children. Careful monitoring of blood pressure and kidney/liver function are crucial for individuals affected by ARPKD.
How long does an outbreak last?
ARPKD is not an "outbreak" type of disease. It is a chronic condition that is present from birth (or shortly thereafter) and persists throughout life. The severity and progression of symptoms can vary.
How is it diagnosed?
Diagnosis often involves:
Prenatal ultrasound: May detect enlarged kidneys in the fetus.
Postnatal ultrasound: To visualize cysts in the kidneys and liver.
Physical examination: To assess for enlarged kidneys, high blood pressure, and other signs.
Family history: To determine if there is a history of ARPKD in the family.
Genetic testing: To confirm the diagnosis by identifying mutations in the PKHD1 gene.
Liver biopsy: May be performed to assess the extent of liver fibrosis.
Timeline of Symptoms
The timeline of symptoms varies:
Prenatal/Newborn: Some infants are diagnosed prenatally or shortly after birth due to enlarged kidneys and respiratory distress.
Infancy/Childhood: Others may be diagnosed later in infancy or childhood, with symptoms such as high blood pressure, urinary tract infections, liver problems, and growth retardation becoming apparent.
Progressive: The disease is typically progressive, with kidney and liver function gradually declining over time.
Important Considerations
Early diagnosis and management are crucial to improve outcomes.
Multidisciplinary care is often required, involving nephrologists, hepatologists, pulmonologists, and other specialists.
Kidney transplantation may be necessary in cases of end-stage renal disease.
Liver transplantation may be considered for severe liver disease.
Ongoing research is focused on developing new therapies to treat ARPKD.