Basic Information About Autosomal Recessive Polycystic Kidney Disease(ARPKD)

ARPKD is an inherited disease in which clusters of fluid-filled sacs form in the renals, often leading to kidney failure by the age of 10 and a reduced lifespan.

The signs of ARPKD frequently begin before birth, so it is often called "infantile PKD." Children born with ARPKD often, but not always, develop kidney failure before reaching adulthood. Severity of the disease varies. Babies with the worst cases die hours or days after birth due to respiratory difficulties or respiratory failure.

Population at risk

1.Patients with clinical manifestations characteristic of PKD

2.Patients with extrarenal manifestations characteristic of PKD

3.Patients with parental consanguinity

Category

1.The symptoms of category 1 ARPKD begin before birth. Around half of all cases diagnosed during routine ultrasound scans.

The kidneys are affected by the development of multiple cysts , which make the kidneys much larger than usual. This can make the unborn baby's abdomen swollen, which can cause difficulties when delivering the baby.
2 presents neonatally:

Infants have palpable kidneys at birth.

About 60% of the kidney is affected and there is mild liver disease.

As renal impairment is often less severe in utero there is less risk of pulmonary hypoplasia but renal failure is progressive, usually causing death within a few months.

3.The symptoms of category 3 ARPKD usually develop a few months after birth, and include noticeably enlarged kidneys, liver and spleen. Other conditions associated with this category of ARPKD include:

high blood pressure

chronic kidney disease

4.presents in childhood:

There is marked liver disease.

Fewer than 10% develop renal failure.

The disease usually presents between 6 months and 5 years.

There is variable renal enlargement and hepatosplenomegaly.