Rare Diseases Symptoms Automatic Extraction

The kidney in Fabry's disease.

[fabry disease]

Fabry disease (FD) is an X-linked disease in which mutations of the GLA gene result in a deficiency of the enzyme α-galactosidase A and subsequent progressive, intralysosomal deposition of undegraded glycosphingolipid products, primarily globotriaosylceramide, in multiple organs. Progressive nephropathy is one of the main features of FD and is marked by an insidious development, with an overall rate of progression of chronic kidney disease (CKD) very similar to diabetic nephropathy. Untreated patients usually develop end stage renal disease in their 50s. The decline in renal function in FD is adversely affected by male gender, advanced CKD, hypertension and, in particular, severe proteinuria. Enzyme replacement therapy (ERT) has been shown to slow the progression of Fabry nephropathy. The current consensus is that ERT should be started in all men and women with signs of renal involvement.

Diseases presenting "hypertension" symptom

  • achondroplasia
  • acute rheumatic fever
  • adrenal incidentaloma
  • aniridia
  • aromatase deficiency
  • cadasil
  • child syndrome
  • cohen syndrome
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • cushing syndrome
  • cystinuria
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • gm1 gangliosidosis
  • heparin-induced thrombocytopenia
  • hereditary cerebral hemorrhage with amyloidosis
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • inclusion body myositis
  • kallmann syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • lymphangioleiomyomatosis
  • pendred syndrome
  • primary effusion lymphoma
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • typhoid
  • von hippel-lindau disease
  • well-differentiated liposarcoma
  • werner syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated