Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Previous reports of extensive lipid accumulation within neurons of the autonomic nervous system in Fabry disease suggest an anatomicopathologic basis for the peculiar pain, diminished sweating, and gastrointestinal symptoms experienced in this disorder. To further assess autonomic function in Fabry disease, noninvasive clinical tests were performed on 10 patients. Diminished sweating was found in each; the loss was approximately uniform proximally and distally, suggesting sweat gland dysfunction rather than autonomic neuropathy. Impaired pupillary constriction with pilocarpine, and reduced saliva and tear formation were found in half the patients. Disordered intestinal mobility was demonstrated in the oldest patients. In all cases, the cutaneous flare response to scratch and intradermal histamine was diminished, and pruritus was not experienced. Signs of autonomic dysfunction are present in Fabry disease and correlate with the known lipid deposition in autonomic neurons.
 ...
PMID:Fabry disease: impaired autonomic function. 680 89

Skin symptoms in renal disease occur in a series of rare inherited or acquired diseases affecting the kidneys as well as the skin (amyloidosis, vasculitis, angiokeratoma diffusum corporis Fabry) (table 1). Chronic renal failure, regardless of its origin, often causes important skin symptoms, such as pruritus, the typical complexion with elastosis seen in uremic patients, porphyria cutanea uremica, metastatic calcifications, skin necrosis due to uremic small arteries disease with medial calcification and intimal hyperplasia, perforating dermatoses, nail lesions and symptoms of the oral mucosa (table 2). The following article reviews the pathogenesis and the limited possibilities of treatment for skin symptoms in chronic renal failure.
 ...
PMID:[Skin changes in kidney diseases and in chronic kidney insufficiency]. 775 65