More than 300 individuals with this disease have been reported world-wide but it is not known how common this medical problem truly is. Patients with the disease deficiency lack the enzyme adenine phosphoribosyltransferase and therefore have difficulties breaking down dietary substances called purines, resulting in accumulation of a compound called 2,8-dihydroxyadenine (2,8-DHA) that is excreted by the kidneys. 2,8-DHA is poorly soluble in the urine leads to the formation of kidney stones and kidney injury. Interestingly, up to 70% of affected patients, have red hair or relatives with this hair color. Most patients with APRT deficiency have repeated episodes of kidney stones that are not detected by a conventional x-ray study. However, all stones are easily detected by other medical imaging methods such as ultrasound or computerized tomography (CT) scan. A minority of patients develop symptoms of kidney failure. Kidney stones are often associated with severe loin or abdominal pain. Symptoms associated with kidney failure are largely nonspecific such as increased fatigue and weakness, poor appetite, and weight loss. Children with the disease may have similar symptoms as adults. In young children, APRT deficiency can cause reddish-brown diaper spots. Currently, no patient support organizations devoted to APRT deficiency exist. However, if you or your physician or other health care providers have questions about the diagnosis of APRT deficiency, or care of patients who have this problem, please do not hesitate to contact Vidar Edvardsson, MD (vidare@landspitali.is) and/or Runolfur Palsson, MD (runolfur@landspitali.is) at Landspitali University Hospital in Reykjavik, Iceland (paging operator: +354-543-1000).
