SNP Shot: Genomic Insights

Adenine phosphoribosyltransferase (APRT) deficiency is a genetic disorder impacting the kidneys and urinary system. The hallmark of this condition is the repeated formation of kidney stones, and urinary tract stones are also common. These stones can obstruct the urinary tract, resulting in painful urination and difficulty emptying the bladder.

Symptoms of APRT deficiency can manifest at any age, from infancy to adulthood. In infants, the initial indication is often reddish-brown particles in the diaper, resulting from passed stones. Later in childhood, recurring kidney and urinary tract stones can impair kidney function. Roughly half of those with APRT deficiency experience their first symptoms in adulthood, typically kidney stones and related urinary issues. Additional symptoms linked to kidney and urinary tract stones include fever, urinary tract infections, blood in the urine (hematuria), abdominal pain, nausea, and vomiting.

If left untreated, kidney function can deteriorate, potentially leading to end-stage renal disease (ESRD). ESRD is a serious and potentially fatal condition where the kidneys lose their ability to adequately filter fluids and waste from the body.

The symptoms and their intensity vary considerably among individuals with APRT deficiency, even within the same family. It's estimated that 15 to 20 percent of individuals with APRT deficiency remain asymptomatic.

Inheritance:

APRT deficiency follows an autosomal recessive inheritance pattern. This means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. Individuals who carry only one copy of the mutated gene are typically asymptomatic carriers.