2-8 Dihidroxiadeninuria y trasplante renal

ADENINE  PHOSPHORIBOSYLTRANSFERASE  DEFICIENCY  IN A KIDNEY TRANSPLANT  PATIENT
 
María del Carmen  Rial, Julio Cesar Goldberg, Ma.Fernánda Toniolo, Alejandro Tavera, Luis León, Jorgelina Petroni,Elena Minué, HelmutRennke, Domingo Casadei.
 
Buenos Aires Institute of  Nephrology.
Brigham and women hospital, boston ma 
ABSTRACT:
 
Adenine phosphoribosyltransferase deficiency (APTR) is arare autosomal recessive disorder that generates a recycling pathway of purine cycle, where adenosine monophosphate (AMP) cannot be recovered from adenine, therefore the adenine is oxidized by xanthineoxidase (XOR) and turn into 8-hydroxyadenina and finally into 2.8-dihydroxyadenina (2.8 DHA). 
2.8DHA is an insoluble deposit in the kidney, causing crystalluria and stones leading to glomerularfiltration impairment. Recurrence on the graft was reported in four cases.
We reported a new case. Our was a male patient, 51 years old, who received an identical LRD (sister) on 03/17/2011. 
Intially,the patient was immunosuppressed with sodic micofenolate, tacrolimus and steroids.
The graft suffered from an early disfunction that was initially attributed to acute humoral rejection (biopsyfindings: interstitial infiltrate, tubulitis and C4d+). He was consequently treated with plasmaferesis + IVIg + bortezomid, unsuccessfully.
At that time, GFR was 10 ml/min and he was under HD from time totime (when necessary). Therefore, we performed new biopsy with EM on 09/03/2011 where we diagnosed 2.8 dihydroxyadenine. Despite patient's AMR history, micofenolate was suspended and allopurinol wasstarted with ongoing tacrolimus and steroids.
The allopurinol doses (300 mg QD started on 09/13/2011) was well tolerated and renal function started to improve progressively. HD was discontinued andcreatinine level fell to 4mg/dl (updated to 12/01/2011). No hematological side effects were reported.
A follow-up biopsy will be performed in the following days, when lowest creatinine level is...