Fabry disease.

[fabry disease]

Fabry disease (FD ) is an X-linked disorder caused by deficiency of the enzyme alpha-galactosidase A , required for the degradation of globotriaosylceramide . Accumulation of substrate occurs in multiple cell types resulting in a multi-system disorder , affecting both males and females . Clinical features include neuropathic pain and angiokeratoma , with subsequent development of proteinuria , renal failure , left ventricular hypertrophy , arrhythmias and stroke . Beyond palliative therapies for organ involvement and pain control , enzyme replacement therapy directed at the underlying metabolic defect became available in 2001 -2003 . Knowledge of the pathophysiology and clinical features of FD is vital for assessing the rationale and evidence of efficacy of therapies for FD and their limitations . Whilst ERT improves many of the symptoms of FD , its effect on the natural history of the disorder has yet to be fully demonstrated . Improved understanding of the appropriate use of adjunctive therapies and the development of new treatment strategies , including pharmacologic chaperone therapy and gene therapy , coupled with long term clinical outcome data on the effects of ERT are all key components of optimising treatment for FD .

Diseases
Validation

Diseases presenting "renal failure" symptom

cholangiocarcinoma

congenital diaphragmatic hernia

cystinuria

erdheim-chester disease

fabry disease

heparin-induced thrombocytopenia

homocystinuria without methylmalonic aciduria

junctional epidermolysis bullosa

kindler syndrome

legionellosis

oculocutaneous albinism

primary hyperoxaluria type 1

scrub typhus

systemic capillary leak syndrome

This symptom has already been validated