Journal of Nephrology & Therapeutics

Véronique Droin

Publications

• Review Article
  Adenine Phosphoribosyltransferase Deficiency: An Under-Recognized Cause of Urolithiasis and Renal Failure
  Author(s): Irène Ceballos-Picot, Morgan Ledroit, Lionel Mockel, Véronique Droin, Michel Daudon, Mohamad Zaidin, Jérôme Harambat and Guillaume BolléeIrène Ceballos-Picot, Morgan Ledroit, Lionel Mockel, Véronique Droin, Michel Daudon, Mohamad Zaidin, Jérôme Harambat and Guillaume Bollée
  
  Early diagnosis of monogenic forms of urolithiasis is important to prevent associated renal injury and other treatable disease manifestations, but is often delayed due to lack of knowledge of these rare disorders. Adenine phosphoribosyltransferase (APRT) deficiency is an under-recognized autosomal recessive disorder causing 2,8 dihydroxyadenine (2,8-DHA) urolithiasis and crystalline nephropathy secondary to intratubular 2,8-DHA crystalline precipitation. Patients often present with kidney stones but may also present with renal failure in the absence of stones or nephrocalcinosis. The disease can be efficiently treated by inhibitors of xanthine dehydrogenease (XDH), which makes early diagnosis and treatment essential to prevent recurrence of urolithiasis and nephropathy. Here, we reviewed 67 patients from 56 families with complete APRT deficiency identified.. Read More»
  DOI: 10.4172/2161-0959.1000173

  Abstract PDF