Patient 2 

 

It was in April 2011 that my son was diagnosed with APRT Deficiency at 19 months of age. He had always been a healthy and active little boy with the exception of repeated ear infections. 

One day he developed a fever and I noticed small red spots in his nappy, similar to the ones that had appeared when he was an infant. At the time I was advised not to worry as they were simply crystals that would disappear over time. The fever went down and he returned to daycare the morning after. It was later that same day that I received a call from the daycare provider, who was alarmed about the spots. I assured her that they were harmless, but was urged by a co-worker to seek medical attention. The physician at my local clinic wanted him to be taken to the Children‘s Medical Center for further testing which I did, and a urine sample was obtained. 

 

A few days had passed when we were contacted by the hospital to inform us that they had found crystals in my son‘s urine. It was noted that they were caused by a rare condition affecting the kidney and we were invited to a meeting with a pediatrician the following morning. This news came as somewhat of a shock and as I had misunderstood the name of the disease, internet research proved unsuccessful and we had no idea what to expect.

 

The pediatrician quickly put our minds at ease and explained the nature of APRT Deficiency. We learned that the crystals had been observed during urine microscopic analysis which led to the diagnosis. This was a coincidence however, as children with APRT Deficiency usually present with reddish brown diaper spots. 

 

Our son underwent further testing and enrolled in a group study of the disease. He was treated with Allopurinol which has agreed well with him. We found it a strange and sudden reality for our son to be put on medication for the rest of his life but thankfully the therapy is simple by nature and will stop kidney stone formation and prevents future development of kidney failure. 

 

It has now been a year since his diagnosis and we take him in for check-ups regularly, though the therapy has proven very successful. His urine has to be checked for crystals to assess whether the dosages should be increased. We find it very comforting that our doctors are in the forefront of international research of the disease and its nature. Meanwhile, our little boy leads a very normal life, happy and energetic as ever!   

 

 

 

 

Patient 3

 

At the age of 21, after numerous urinary tract infections, I ended up in A&E and was diagnosed with kidney stones. The doctors were unable to determine what type of stone they were and I found myself back in A&E a few months later, blocked with stones. I was told that only one of my kidneys was functional as the other one was shriveled up. Doctors suggested everything from lithotripsy to medication to removal of the stones. I was finally introduced to a urologist at Massachusetts General Hospital, who gave me an ileal ureter as other measures did not work and surgery was not viable at that point. I finally passed a fragment of a stone which was identified as a 2.8 dihydroxyadenine stone. My urologist explained to me that I had APRT Deficiency which was caused by a genetic anomaly in my parents, with a 25% chance of their offspring getting this type of kidney stone. I was put on Allopurinol but had a strong allergic reaction with gradual loss of hair and sight over a couple of months. Fortunately I regained my sight but my hair was damaged.

 

We tried Allopurinol again some years later with a different dosage but my reactions were the same. For years I waited for Febuxostat to come to America to see if that would do what Allopurinol could not. When it came out I went on it immediately but crystals formed over my eyes causing me to lose my vision again. However, the crystals cleared and I regained my sight eventually. Currently there are no viable drugs for me and I have approximately 11 stones in my functioning kidney and 5 in my non-functioning kidney. 

 

The stones continue to grow and congregate but tend to stay in the lower pole of my kidneys. I have not passed any stones since the 90s and removal is not an option until the kidney shows signs of distress (urea and creatinine are presently good). Transplant is obviously not an option unless my kidneys fail. I take a preventative antibiotic for infections as I had nine infections last year. I have been doing great since going back on the preventative; infection free!