Rare Diseases Symptoms Automatic Extraction

Fabry's disease--a comprehensive review on pathogenesis, diagnosis and treatment.

[fabry disease]

Fabry's is a progressive, destructive and life threatening disease which reduces significantly life expectancy of the affected individual. It is a genetic disorder of X-linked inheritance caused by deficiency of lysosomal enzyme alpha-galactosidase A resulting in progressive accumulation of glycosphingolipids within different body cells. Fabry's deposits are defined histopathologically as lamellate membrane like structure called myeloid or Zebra bodies. Clinical manifestations of disease are hypohidrosis, acroparesthesias, heat intolerance, angiokeratomas, corneal opacities, cardiac arrhythmias, left ventricular hypertrophy, proteinuria, renal insufficiency and cerebrovascular accidents. Diagnosis of Fabry's need a high clinical suspicion, good physical examination, organ specific tests and is confirmed by demonstrating low enzyme assays in homozygous males and gene typing in heterozygous females. Specific therapy for Fabry's disease is enzyme replacement with recombinant human alpha-galactosidase A. If started early it has a promising role in renal and cardiac disease however beneficial role is not yet defined in CNS involvement.

Diseases presenting "renal insufficiency" symptom

  • erdheim-chester disease
  • fabry disease
  • familial mediterranean fever
  • junctional epidermolysis bullosa
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • sneddon syndrome
  • systemic capillary leak syndrome

This symptom has already been validated