Fabry Nephropathy: Indications for Screening and Guidance for Diagnosis and Treatment by the European Renal Best Practice

Wim Terryn; Pierre Cochat; Roseline Froissart; Alberto Ortiz; Yves Pirson; Bruce Poppe; Andreas Serra; Wim Van Biesen; Raymond Vanholder; Christoph Wanner


Nephrol Dial Transplant. 2013;28(3):505-517. 

In This Article


A literature search was conducted using the PubMed database (most recent search July 2012). The search term used was 'Fabry Disease' with limits: 'Humans', 'Clinical Trial', 'Meta-Analysis', 'Practice Guideline', 'Randomized Controlled Trial', 'Review', 'English', 'French'. A total of 357 articles were retrieved; the articles were classified to the following topics (one paper can be attributed to more than one classification):

  1. epidemiology, screening studies;

  2. diagnostic methods;

  3. Fabry nephropathy: natural history, complications (hypertension), mechanisms, renal pathology;

  4. treatment of Fabry nephropathy; with ERT, ACEi and ARB, RRT; efficacy and safety issues.

Articles out of scope and review articles that presented no new data were excluded. Articles on experimental, non-registered treatments were also excluded.

The reference lists of the identified relevant studies were manually searched for additional citations.

After all relevant publications were retrieved, a consensus meeting was held with all co-authors. The resulting paper was sent for internal review before submission, as explained in the 'instructions to authors' section of the ERBP website.[7]