What it is
A child is affected when they inherit a faulty gene from both parents, who usually have no symptoms themselves. Each pregnancy of such parents has a 1 in 4 chance of being affected.
Care is led by specialist children's kidney and liver teams and may include blood pressure treatment, nutrition support, dialysis, and kidney or liver transplant.
Common signs
- Enlarged kidneys seen on a pregnancy scan
- Breathing problems at birth in severe cases
- High blood pressure
- Poor growth
- Signs of liver problems later in childhood
How it is usually diagnosed
- Ultrasound in pregnancy or after birth
- Blood and urine tests of kidney and liver function
- Genetic testing
Records worth keeping
Keeping these together makes each appointment easier, especially when you see a new doctor:
- Pregnancy and kidney ultrasound reports
- Kidney and liver function results over time
- Growth charts
- Genetic test results and specialist letters
Questions to ask your doctor
- How severe is it, and what should we expect as our child grows?
- What will the care plan and check-ups look like?
- What are the chances in a future pregnancy?
When to get help right away
Call 112 or go to the nearest emergency department if you have:
- Vomiting blood or black stools
- Fever with a very unwell child
- Breathing difficulty in a baby
This page is general information. It is not a diagnosis and does not replace a doctor who knows your history. Medfold keeps your records organised; it does not interpret them.