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)

A study of a muscle biopsy has provided evidence of storage involvement of the skeletal muscle fibres in Fabry's disease. In the endothelial cells of the capillaries, the inclusions were more abundant and pleomorphic. Muscle satellite cells were spared. In the sensory nerve biopsy, the perineurial and endothelial cells contained lamillar bodies, but not the Schwann cells. There was a slight reduction of the number of the small myelinated fibres and of the unmyelinated fibres. An electron microscopic study of a muscle biopsy can be helpful in the diagnosis of the disease. The physiopathology of the pain attacks is still a matter for discussion.
 ...
PMID:Ultrastructure of muscle and sensory nerve in Fabry's disease. 19 70

The relationship between biochemical parameters and clinical symptoms in angiokeratoma corporis diffusum universale (Anderson-Fabry's disease) has been studied in an extensive English family. The biochemical parameters measured were alpha-galactosidase activity in urine and in single hair roots and the urinary glycosphingolipid excretion per 24 h. The clinical symptoms evaluated included the occurrence of pain, the prevalence of skin lesions, an abnormal ECG, cornea verticillata and other features. Nine male patients and 13 female carriers were studied. No correlation between biochemical parameters and the severity of the clinical symptoms could be found either in the hemizygotes or in the heterozygotes. The urinary alpha-galactosidase activity in all the heterozygotes lay within the normal range. All the obligate heterozygotes (mothers and daughters of hemizygotes) could be detected by analysis of hair roots. Additional heterozygotes were recognized on the basis of clinical symptoms and hair root analysis.
 ...
PMID:Relationship between biochemical and clinical features in an English Anderson-Fabry family. 22 29

In a 35-year-old man with the full picture of Fabry's disease there was an almost fourfold increase of trihexosylceramide concentration in plasma and a decrease in the alpha-galactosidase activity to 13 percent as compared with the values from a control group. Using the same biochemical methods it could be shown that two nephews of the patient are hemizygote carriers and that two sisters and the mother of the patient are heterozygote carriers. Causative treatment of the disease is unknown. In this patient the attacks of pain could be permanently improved with phenytoin and carbamazepin.
 ...
PMID:[Angiokeratoma corporis diffusum (Fabry's disease). Biochemical diagnosis in plasma]. 80 96

A sural nerve biopsy of a patient with Fabry's disease showed depletion of larger myelinated fibres, but smaller myelinated and unmyelinated fibres were intact. Epineurial and to a lesser degree endoneurial vessels revealed abundant lamellar inclusions in the endothelial and perithelial cells. Larger myelinated nerve fibres contained glycogen granules in the vacuoles caused by splitting of the adaxonal membranes. A skin biopsy revealed abundant inclusions in the secretory cells and myoepithelial cells of the sweat glands. The lumen of the gland was packed with inclusions like those in the vessel walls. The pain and anhydrosis might be caused by accumulation of glycolipid in the vasa nervorum and sweat glands and not by autonomic nerve involvement.
 ...
PMID:Fabry's disease on the mechanism of the peripheral nerve involvement. 80 81

On the basis of a study of 9 new cases of Fabry's disease (7 hemizygotes and 2 heterozygotes), the authors recall that the disease often presents as a painful syndrome of the extremities but its exact nature usually remains obscure for long periods. The association of such pain with angiokeratomas and the notion of a family history is highly suggestive of the disease. The biochemical possibilities in the diagnosis of the latter are described. All patients underwent transcutaneous renal biopsy. In the 7 hemizygotes and one of the heterozygotes, light microscopy revealed diffuse characteristic vacuolisation of the glomerular cells. In the other heterozygote, the glomerular lesions were very limited, seen only by electron microscopy.
 ...
PMID:[Diagnosis of Fabry's disease]. 82 83

A 20-year-old man presented with generalized acquired anhidrosis and heat intolerance which was confirmed by a sweat test. Other clinical features included severe pain of the extremities and cutaneous angiokeratomas. On electronmicroscopy, granules specific for Fabry's disease were observed in the endothelial cells. Biochemical examination revealed a decreased level of serum alpha-galactosidase A. These findings confirmed the diagnosis of Fabry's disease.
 ...
PMID:Fabry's disease. 132 36

A purine degradation study, thermography and near infrared spectroscopy of the extremities were performed on 2 young males with Fabry disease and 2 healthy controls. Two-minute semi-ischemic forearm exercise caused a distinct increase in lactate in all subjects, but venous hypoxanthine and ammonia were greatly increased only in the Fabry patients, suggesting a relatively hypoxic state of the extremities. Limb thermograms of the patients revealed glove and stocking type disturbance at rest. Poor recovery of the skin temperature of the hands and forearms after exercise was observed in the patients, but the sharp increase in oxygenated hemoglobin after total ischemia was found to be normal or near infrared spectroscopy. Neurotropin showed an analgesic effect, i.e. a strong and selective heat-productive action on the painful lesions, and suppressed the hypoxanthine level after exercise in 1 patient. Although the pathophysiology of the pain in Fabry disease has not been clearly elucidated, a relatively hypoxic state with peripheral hypothermia might play an important role in triggering of a painful attack or chronic burning paresthesia.
 ...
PMID:Relative hypoxia of the extremities in Fabry disease. 145 89

We describe 2 patients with Fabry's disease with disabling crises of burning pain in hands and feet. These crises were accompanied by fever and an elevation of the erythrocyte sedimentation which often led to erroneous diagnosis of other rheumatic conditions. Fabry's disease should be considered on the different diagnoses of intermittent rheumatic syndromes.
 ...
PMID:Joint manifestations of Fabry's disease. 148 52

Neurotropin, an extract from the inflamed skin of vaccinia virus-inoculated rabbits, was effective in the relief of sharp or burning pain induced by pyrexia, hot weather, bathing, or exercise in 2 siblings with Fabry disease. Neither neurotropin nor carbamazepine mono-therapy relieved the episodic colicky pain in 1 patient; however, therapy with both drugs eliminated the pain completely. This result suggests that the mechanisms underlying the analgesic actions of both drugs may be complementary in ameliorating the pain of Fabry disease, even though the mechanism underlying the pain has not been clearly elucidated.
 ...
PMID:Relief of chronic burning pain in Fabry disease with neurotropin. 211 6

We present a rare case of priapism in a child, ten years old, in association with Fabry's disease. The child had a history of disseminated nodular enlargement, crises of fever, intermittent pain in the extremities and ten hours persistent painful erection of the penis. We don't obtain pain or erection relief with sedation, epidural block and irrigation of the corporal bodies. A saphenous-cavernous shunt, in the Grayhack fashion made, being results satisfactory. In the follow-up, the child had sporadic pain in the extremities and no erection of the penis. The cavernosography showed the shunt open. Fabry's disease was confirmed by nodular biopsy and the demonstration of deficient alpha-galactosidase.
 ...
PMID:[Priapism associated with Fabry's disease]. 212 72


1 2 3 4 5 6 7 8 9 10 Next >>