Autosomal Recessive Polycystic Kidney Disease

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 ...

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

  • 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
  • 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
  • Condition: Portal Hypertension in Autosomal Recessive Polycystic Kidney Disease (ARPKD)
  • Journal: Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
  • Treatment Used: Transjugular Intrahepatic Portosystemic Shunt (TIPPS)
  • Number of Patients: 5
  • Published —
This study evaluated the effect of transjugular intrahepatic portosystemic shunt (TIPSS) on portal hypertension, liver and kidney function, and the long term complications in children with autosomal recessive polycystic kidney disease (ARPKD) with congenital hepatic fibrosis (CHF).

Clinical Trials

Clinical Trial
  • 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