Autosomal Recessive Polycystic Kidney Disease (ARPKD)
ARPKD is a severe and rare form of PKD that affects roughly one in every 20,000 children worldwide.
What causes ADPKD?
For a child to inherit ARPKD, both parents need to be ‘carriers’, which means that they each have one copy of the mutated gene that causes the disease. If this is the case then there is a one in four (25%) chance that the child will inherit two copies of the mutated gene and therefore develop ARPKD.
ARPKD can cause fluid-filled cysts to grow on the kidneys and liver during foetal development, which can affect the growth of other organs such as the lungs. Sadly, around one in three (33%) babies with ARPKD do not survive past a few weeks because of breathing difficulties. However, of those who do survive past the early stages, nine out of ten (90%) live to be at least five years of age.
The Symptoms of ARPKD
ARPKD can cause a range of problems that vary from case to case, even differing between family members who also have the condition.
High Blood Pressure
of kidney function,
known as Chronic Kidney Disease
Excessive urinating and thirst
knownas Congenital Hepatic Fibrosis (CHF)
Normally, early signs of ARPKD can be detected with an ultrasound scan during the later stages of pregnancy, however in some cases people with ARPKD don’t develop symptoms until adulthood.
Treatment for ARPKD
There is no specific treatment for ARPKD and the most common approaches aim to improve the symptoms of the condition. For example, ventilators are given to babies that are struggling to breathe, while medication can be administered to help control high blood pressure.
Children with ARPKD may struggle to live a normal life, due to needing time consuming and painful treatments such as dialysis, transplants and coping with symptoms.
Despite the significant improvements in care over the past few decades, there is currently no cure for ARPKD and the person’s outlook can vary significantly with the severity of the disease. More research is therefore needed.
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