Adenine phosphoribosyltransferase (APRT) deficiency is an inherited rare disorder affecting the renal system. This condition is mainly seen in people of Japanese, European and Iceland origin. The condition is characterized by repeated formation of stones in kidney and urinary tract. Frequent blockage in kidney due to stones eventually leads to chronic renal failure.
The disease is caused due to mutation in the APRT gene. Gene mutation leads to impairment of an enzyme adenine phosphoriboyltransferase which causes all the unwanted urinary tract symptoms. The symptoms can begin at any stage of life presenting as frequent kidney stones and other renal symptoms.
Adenine phosphoribosyltransferase deficiency treatment consists of more consumption of fluid, eating foods that are low in purine, and medicines to reduce uric acid in the body. Prognosis is good with early detection of the disorder and initiation of treatment.
What Causes Adenine Phosphoribosyltransferase Deficiency?
Adenine phosphoribosyltransferase deficiency is a genetic disease. The disease is mainly observed in Japanese, Europeans and people originating from Iceland. The symptoms of this disorder can present during infancy, childhood or adulthood. Both men and women are equally affected from the disorder.
Adenine phosphoribosyltransferase deficiency is caused due to mutation in the APRT gene.This gene is responsible for producing an enzyme called adenine phosphoribosyltransferase. The enzyme adenine phosphoribosyltransferase acts as a catalyst in conversion of adenine into adenosine monophosphate (AMP). AMP has a role to play in DNA formation and providing energy to cellular tissue.
Mutation in this gene producing enzyme inhibits the whole transformation process leading to buildup of toxins in the form of uric acid etc. Uric acid crystals develop in blood and get deposited in the kidney giving rise to stones in the kidney and in the rest of urinary tract. The disorder is autosomal recessive and occurs when both the copies of gene are defective.
Adenine Phosphoribosyltransferase Deficiency Symptoms
The signs and symptoms of adenine phosphoribosyltransferase deficiency may begin from infancy or may develop in childhood or adulthood. In an infant suffering from this condition, you may notice red or brown crystals in the diaper. These crystals are kidney stones passed in urine. In children and adults, following are the main symptoms:
- Recurrent formation and passage of kidney stone in urine.
- Pain in abdomen due to blocked kidney stone.
- Pain while passing urine.
- Reddish colored urine because of blood passing in urine.
- A large stone can block the junction of the urethra and bladder resulting in difficulty in passing urine.
- Recurrent urinary tract infection.
- Nausea and vomiting.
- Low or high grade fever.
- Both the kidneys are affected.
The disorder if not detected and treated will gradually lead to progressive dysfunction of kidney ultimately damaging them and causing renal failure.
Treatment Of Adenine Phosphoribosyltransferase Deficiency
Adenine phosphoribosyltransferase deficiency is a genetic disease. Since the disorder is associated to cause damage to the kidney, steps are taken to prevent the damage as far as possible. The main aim is to prevent formation of stone.
Usually following is the treatment strategy suggested by medical practitioners:
- Patient is advised to drink enough water throughout the life. It will help to flush out the toxins in the body that causes crystal formation.
- A low purine diet is suggested. Person suffering from adenine phosphoribosyltransferase deficiency is advised to consume foods that are low in purine. Thus they should avoid eating organ meat and fatty food, reduce or avoid consuming alcohol. They should include more vegetables and fruits in their diet.
- Patient may need to take medicine to reduce uric acid formation in the body.
If the condition has resulted in chronic kidney failure, renal transplant may be necessary.