AJR196

A JOINT RESOLUTION designating August of each year as “Adenine Phosphoribosyltransferase Deficiency Awareness Month” in New Jersey.

Whereas, Adenine phosphoribosyltransferase (ARPT) deficiency is an inherited condition that affects the kidneys and urinary tract, causing blockages in the urinary tract, pain during urination, and difficulty releasing urine; and

Whereas, Affected individuals can develop APRT deficiency anytime from infancy to late adulthood; and

Whereas, When APRT deficiency appears in infancy, the first sign is usually the presence of tiny grains of reddish-brown material in the baby's diaper caused by the passing of stones; and

Whereas, In adulthood, when approximately half of individuals first experience symptoms of the deficiency, signs include recurrent kidney and urinary tract stones and other related kidney and urinary problems, including fever, urinary tract infection, blood in the urine (hematuria), abdominal cramps, nausea, and vomiting; and

Whereas, The symptoms of APRT deficiency and their severity vary greatly among affected individuals, even among members of the same family. It is estimated that 15 to 20 percent of people with APRT deficiency do not have any signs or symptoms of the condition; and

Whereas, Because the kidney and urinary tract stones produced by APRT deficiency are radiolucent, they do not show up on conventional X-rays. As a result, on average, it can take more than six years to receive an accurate diagnosis; and

Whereas, Diagnosis typically relies on kidney stone analysis, the examination of crystals in urine, laboratory testing of enzyme activity in red blood cell samples, or conducting genetic testing on the APRT gene; and

Whereas, If diagnosed early, kidney failure and recurrent stones can often be completely prevented; and

Whereas, Additionally, medications like allopurinol, which block crystal formation in the kidneys and urinary tract, and dietary changes help stop the decline in kidney function that can lead to end-stage renal disease; and

Whereas, A lack of awareness of APRT deficiency often causes a significant delay between the onset of symptoms and a proper diagnosis; and

Whereas, Increased public awareness, education, and support can significantly improve prevention, diagnosis, and treatment outcomes for APRT deficiency and are essential in improving outcomes for this treatable disease; and

Whereas, It is altogether fitting and proper to designate August of each year as “Adenine Phosphoribosyltransferase (APRT) Deficiency Awareness Month” in order to educate the public about APRT deficiency and to highlight the importance of diagnosis, prevention, treatment, and support for those affected by this condition; now, therefore,

Be It Resolved by the Senate and General Assembly of the State of New Jersey:

1. The month of August of each year is designated as “Adenine Phosphoribosyltransferase (APRT) Deficiency Awareness Month” in order to educate the public about APRT deficiency and to highlight the importance of diagnosis, prevention, treatment, and support for those affected by this condition.

2. The Governor may annually issue a proclamation recognizing the month of August as “Adenine Phosphoribosyltransferase (APRT) Deficiency Awareness Month” and call upon public officials and residents of the State of New Jersey to observe the day with appropriate activities and programs.

3. This joint resolution shall take effect immediately.

STATEMENT

This joint resolution designates the month of August of each year as “Adenine Phosphoribosyltransferase (APRT) Deficiency Awareness Month.”

ARPT deficiency is an inherited condition that affects the kidneys and urinary tract, causing blockages in the urinary tract, pain during urination, and difficulty releasing urine. Symptoms include recurrent kidney and urinary tract stones and other related kidney and urinary problems, including fever, urinary tract infection, blood in the urine (hematuria), abdominal cramps, nausea, and vomiting.

On average, it can take more than six years to diagnose ARPT deficiency, which typically relies on kidney stone analysis, the examination of crystals in urine, laboratory testing of enzyme activity in red blood cell samples, or conducting genetic testing on the APRT gene.

If diagnosed early, kidney failure and recurrent stones can often be completely prevented, and medications like allopurinol, which block crystal formation in the kidneys and urinary tract, and dietary changes can help stop the decline in kidney function that can lead to end-stage renal disease.

A lack of awareness of APRT deficiency often causes a significant delay between the onset of symptoms and a proper diagnosis. Therefore, it is altogether fitting and proper to designate August of each year as “Adenine Phosphoribosyltransferase (APRT) Deficiency Awareness Month” in order to educate the public about APRT deficiency and to highlight the importance of diagnosis, prevention, treatment, and support for those affected by this condition.