MediFind
Condition

Autosomal Recessive Polycystic Kidney Disease

Symptoms, Doctors, Treatments, Research & More

Condition 101

What is the definition of Autosomal Recessive Polycystic Kidney Disease?

Autosomal recessive polycystic kidney disease (ARPKD) is a genetic condition that is characterized by the growth of cysts in the kidneys (which lead to kidney failure) and liver and problems in other organs, such as the blood vessels in the brain and heart. The severity varies from person to person. The signs of ARPKD frequently begin before birth, so it is often called “infantile PKD” but some people do not develop symptoms until later in childhood or even adulthood. Children born with ARPKD often, but not always, develop kidney failure before reaching adulthood; babies with the worst cases die hours or days after birth due to respiratory difficulties or respiratory failure. Liver scarring occurs in all patients. The condition is caused by a mutation in the PKHD1 gene and is inherited in an autosomal recessive manner. Some symptoms of the condition may be controlled by medicines, antibiotics, healthy diet, and growth hormones.

What are the alternative names for Autosomal Recessive Polycystic Kidney Disease?

  • ARPKD
  • Polycystic kidney disease, infantile type

What are the current treatments for Autosomal Recessive Polycystic Kidney Disease?

Although a cure or treatment for the underlying genetic cause of autosomal recessive polycystic kidney disease does not exist, advancements have been made in showing improvement of liver and kidney disease in mouse models of the condition by disrupting the function of certain cell receptors.

Medical management is currently symptomatic and involves supportive care. Mechanical ventilation may be used to treat the underdevelopment of the lungs and breathing issues caused by the kidneys that are enlarged due to the numerous cysts. When the kidneys are severely enlarged, one or both kidneys may be removed (nephrectomy). Dialysis may be required during the first days of life if the infant is producing little urine (oliguria) or no urine (anuria). Low levels of sodium (hyponatremia) may occur and is treated with diuresis and/or sodium supplementation depending on the individual's specific levels. High blood pressure (hypertension) is treated with medication. Kidney failure requires dialysis, and kidney transplantation is another option. Poor eating and growth failure may be managed with gastrostomy tubes. Growth hormone therapy may be used to treat the growth failure and kidney insufficiency. Urinary tract infections are treated with antibiotics. Those with liver involvement may require shunt to treat the progressive high blood pressure and possibly liver transplantation.

Is Autosomal Recessive Polycystic Kidney Disease an inherited disorder?

Autosomal recessive polycystic kidney disease (ARPKD) is inherited in an autosomal recessive manner. This means that an affected individual has two gene alterations (mutations) in the PKHD1 gene, with one mutation inherited from each parent. Each parent, who has one altered copy of the gene, is referred to as a carrier. Carriers do not typically show signs and symptoms of the condition. When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be an unaffected carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. This means that with each pregnancy, there is a 75% (3 in 4) chance to have an unaffected child.

Latest Research

Latest Advance
Study
  • Condition: Premature Baby with Severe Oligohydramnios and Hypotension
  • Journal: Journal of Korean medical science
  • Treatment Used: medications, peritoneal dialysis, and respiratory support,
  • Number of Patients: 1
  • Published —
This case report discusses a premature boy diagnosed with renal tubular dysgenesis (abnormal kidney development; RTD) treated with medications, peritoneal dialysis, and respiratory support.
Latest Advance
Study
  • Condition: Congenital Hepatic Fibrosis (CHF) in Children
  • Journal: Pathology international
  • Treatment Used: Living Donor Liver Transplantation (LDLT)
  • Number of Patients: 14
  • Published —
This study clarified the prognosis of children with congenital hepatic fibrosis (CHF) who received living donor liver transplantation (LDLT) from donors who might be heterozygous carriers of a hepatorenal fibrocystic disease.

Clinical Trials

Clinical Trial
Drug
  • Status: Recruiting
  • Study Type: Drug
  • Participants: 480
  • Start Date: March 8, 2019
An Extended Access Program to Assess Long Term Safety of Bardoxolone Methyl in Patients With Chronic Kidney Disease