Infantile Polycystic Disease

Autosomal Recessive Polycystic Kidney Disease (ARPKD)

(also known as infantile polycystic disease)

Infantile polycystic disease is a rare condition that should be diagnosed by a paediatrician. It is distinct from having a small number of normal cysts in the kidney, and some other conditions where multiple cysts are found in the kidneys. It is also distinct from adult polycystic kidney disease.

Incidence is estimated to be from 1:10,000 to 1:40,000. The disease is inherited as a recessive condition, ie two copies of the mistaken gene are required to cause the problems; one copy makes you a carrier. Thus both parents have to be carriers, and any brother or sister of an affected child has a 1:4 chance of having it. Both parents are carriers without symptoms or signs.

Small cysts appear on the tubules of the kidney. The greater number of tubules involved, then the more likelihood of renal damage. The liver is often affected which may mean a transplant of both organs may be needed.

Most cases are diagnosed in infancy. Some may be suspected by foetal ultrasound while others are diagnosed at birth. In severe cases infants may be born with disfigurements.

The main complication in new born babies is severe difficulty breathing. Mechanical ventilation may be needed. High blood pressure is common as is some degree of kidney failure.

The rate at which kidney function is lost varies widely, but the majority of babies who survive the first month of life do not develop severe kidney failure until later childhood or adolescence.

Elevated blood pressure and urinary tract infections need to be treated. Erythropoietin can be used to treat anaemia. Where renal failure occurs, dialysis will be needed. With transplantation, the outcome is good.

We know of no support group in the UK but further information can be obtained by writing to:

PKR Foundation,
4901 Main Street,
Suite 200,
Kansas City,
Missouri 64112-2634.

Tel: 00 1 816 931 2600
Fax: 00 1 816 931 8655
Email: pkdcure@pkrfoundation.org
Home page: http://www.pkdcure.org

NKF Controlled Document No. 18, Infantile Polycystic Disease, written 17 September 2003. Last reviewed 29 November 2010.

The National Kidney Federation cannot accept responsibility for information provided. The above is for guidance only. Patients are advised to seek further information from their own doctor.

The National Kidney Federation is registered in England and Wales as a Company limited by guarantee (Company No 5272349) and awarded charitable status (Charity Number 1106735). Give as You Earn contributions No. CAF GY511.

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