Fabry nephropathy. Role of nephrologist and clinical variables associated with the diagnosis

The early detection of Fabry nephropathy is of interest to us. Its treatment is more effective in early stages. It has been studied by analysing molecular and tissue biomarkers. These have certain disadvantages that hinder its routine use. The aim of this study is to describe the role of the nephrologist in the diagnosis of the disease, and to describe the clinical variables associated with nephropathy in affected patients.

Cross-sectional study. Patients were included from three reference centres in Argentina.

Seventy two patients were studied (26.26±16.48years): 30 of which (41.6%) were men and 42 of which (58.4%) were women; 27 paediatric patients and 45 adults. Fourteen "index cases" were detected, 50% of which were diagnosed by nephrologists. Nephropathy was found in 44 patients (61%): 6 paediatric patients and 38 adults. Two types of clinical variables were associated with nephropathy: (i)peripheral nervous system compromise (P≤.001), angiokeratomas (P≤.001) and auditory compromise (P=.01-.001), with these being early clinical manifestations of the most severe disease phenotype, and (ii)structural heart disease (P=.01-.001) and central nervous system compromise (P=.05-.01), which are major and late complications, responsible for increased morbidity and mortality and lower life expectancy.

The nephrologist plays an important role in the diagnosis of Fabry nephropathy, although the detection thereof owing to its renal involvement would represent a late diagnosis, because nephropathy is associated with late complications of the most severe disease phenotype.