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)

The cutaneous microvasculature is organized into upper and lower horizontal plexuses with the dermal capillary loops arising from the upper plexus. The arteriolar and venular sides of the microvasculature can be identified by the ultrastructure of the mural basement membrane material. Collecting venules present in the lower dermis contain valves. Periadventitial cells (veil cells) are present around all microvessels. Their size and number appear to correlate with the quantity of mural basement membrane material found in cutaneous vessels in diabetes, actinic damage, and chronological aging. The contractile cells of the vascular wall surround the endothelial cell tube in a manner suggesting specific functions. The smooth muscle cells in the arteriolar segment form a sleeve, whereas each pericyte in the postcapillary venular simultaneously makes many contacts with several underlying endothelial cells. The common telangiectases can be explained by abnormalities in this organization and ultrastructure rather than by neovascularization or random anastomoses. The macular telangiectases seen in scleroderma, generalized essential telangiectasia, and nevus flammeus are produced by dilatation of the postcapillary venules of the upper horizontal plexus. Cherry angiomas are produced by spherical and tubular dilatations of capillary loops in dermal papillae with tortuous cross-connections between individual loops. Angiokeratomas of Fabry and Fordyce have the ultrastructure of collecting venules that contain valves, and appear to represent the ectopic development or placement of small valve-containing collecting veins. The cutaneous lesions of hereditary hemorrhagic telangiectasia represent arteriovenous communications.
 ...
PMID:Ultrastructure and organization of the cutaneous microvasculature in normal and pathologic states. 266 19

Eight types of telangiectases were studied by light and electron microscopy and by 3-dimensional reconstruction from photomicrographs. Five were macular: mat telangiectasia of scleroderma, generalized essential telangiectasia, nevus flammeus, and 2 macular types not previously described. Three were papular: cherry angioma, angiokeratoma (Fabry), and angiokeratoma (Fordyce). The macular telangiectases were produced by dilatation of postcapillary venules of the upper horizontal plexus. There was no evidence of neovascularization or vascular malformation. The walls of the dilated venules were thickened by the peripheral deposition of basement membrane-like material admixed with reticulin fibers. The ultrastructure and configuration of the papular telangiectases were different. The cherry angioma was produced by spherical and tubular dilatations of capillary loops in dermal papillae. Each abnormally dilated loop was connected to the neighboring loop or loops by tortuous vascular channels. The vessels in the upper horizontal plexus were not involved. Ultrastructurally, the cherry angiomas were composed of both venous capillaries and postcapillary venules whose walls were thickened in a manner identical to that observed in the macular telangiectases. The angiokeratomas of Fabry and Fordyce were also produced by vascular abnormalities predominantly involving the dermal papillae. Ultrastructurally these vessels were similar to the small collecting veins which are normally found at the dermal-subcutaneous interface. Thus, the papular telangiectases also arose by alterations of the existing microvasculature rather than by proliferation of new vessels with random anastomoses. Reconstruction of the upper horizontal plexus from normal skin showed an undulating network of arterioles and their accompanying postcapillary venules. A 3-layered plexus arranged as venules, arterioles, and venules was not found.
 ...
PMID:Ultrastructure and three-dimensional reconstruction of several macular and papular telangiectases. 641 47

The proportion of centres returning the ERA-EDTA Registry questionnaires has decreased considerably in recent years. Demographic information, based on the response rate of centres in 1994 (44%), does not allow reasonable projections for management of renal failure in Europe. To encourage the participation of non-responding centres, the timing was right to show the powerful impact of the ERA-EDTA Registry as a supra-national registry, by studying patients in renal replacement therapy (RRT) suffering from rare diseases. Four such diseases, Fabry's disease, nephropathy due to cyclosporin (CsA), nephropathy due to cisplatin and scleroderma, were studied using the records of 440665 patients on file up to 31 December 1993. There were 83 patients with Fabry's disease (0.0188%), 85 patients with CsA nephropathy (0.0193%), 120 patients with cisplatin nephropathy (0.0272%) and 625 patients with scleroderma (0.142%). Scleroderma was introduced as a primary renal disease (PRD) in the ERA-EDTA Registry in 1977. Seven patients were accepted for RRT in that year, whereas the number increased to over 50 new patients per year after 1986. More than half of the patients were aged over 55 years, and 68% of them were women. Survival rate of dialysis patients suffering from scleroderma was 22% at 5 years, compared to 51% in patients with standard primary renal diseases. The main causes of death were cardiovascular complications (41%), cachexia (15%) and infection (10%). Survival of first graft in a small number of 28 patients was 44% at 3 years, compared to 60% in standard PRD. Patient survival after first transplant, however, was higher by 32% at 3 years compared to that of dialysis patients. Cisplatin nephropathy was introduced as a PRD in the ERA-EDTA Registry in 1985, and since then six to 19 new patients have been accepted for RRT each year. The main reason for undergoing cisplatin treatment was ovarian (32%) and testicular cancer (21%), and the mean interval from treatment to RRT was 21.5 months, ranging widely from 0.1 to 131 months. Patient survival on dialysis was 22% at 5 years, compared to 51% in patients with standard PRD. Malignancy and cachexia accounted for over 60% of the total number of deaths. CsA nephropathy was introduced as a PRD in the ERA-EDTA Registry in 1985 and, despite its rarity, is of particular interest as a new iatrogenic entity resulting from CsA administration, mainly in solid organ transplantation. In 1985, two new patients commenced RRT in Europe, and the number increased to 59 in 1991-93. The main reason for undergoing CsA treatment was heart (68%) and liver transplant (22%), and the mean interval from treatment to RRT was 50.2 months, ranging from 5 to 90 months. Patient survival on dialysis was 46% at 4 years, compared to 58% in patients with standard primary nephropathies. Cardiovascular causes (48%) and infection (17%) were the main causes of death. Fabry's disease was introduced as a PRD in the ERA-EDTA Registry in 1985, and since the four to 13 new patients per year have commenced RRT in Europe. It is a sex-linked recessive disorder primarily affecting males (87%), and the mean age at start of RRT was 38 years. Proteinuria, skin lesions and painful paresthesiae were the most common presenting symptoms, and over 70% of the patients were hypertensive and had significant cardiovascular problems at RRT. Patient survival on dialysis was 41% at 5 years, compared to 68% in patients with standard primary nephropathies. Cardiovascular complications (48%) and cachexia (17%) were the main causes of death. Graft survival at 3 years in 33 patients was not inferior to that of patients with standard nephropathies (72% vs 69%), and patient survival after transplantation was comparable to that of patients under 55 years of age with standard PRD. (ABSTRACT TRUNCATED)
 ...
PMID:Report on management of renale failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry. 906 83

Restrictive cardiomyopathy (RCMP) is characterized by restrictive filling and reduced diastolic volume of either or both ventricles with normal or near-normal systolic function and wall thickness. It may occur idiopathically or as a cardiac manifestation of systemic diseases such as scleroderma, amyloidosis, Churg-Strauss syndrome, cystinosis, sarcoidosis, lymphoma, Gaucher's disease, hemochromatosis, Fabry's disease, pseudoxanthoma elasticum, hypereosinophilic syndrome, carcinoid, Noonan's syndrome, reactive arthritis, or Werner's syndrome and various neuromuscular disorders. Whereas in idiopathic RCMP the therapeutic options are only treatment of cardiac congestion, in cases with an underlying disorder, a causal therapy may be available. Patients with RCMP should be investigated as soon as the cardiac diagnosis is established for extracardiac diseases to detect a possibly treatable cause of RCMP before the disease becomes intractable. These investigations include a diligent clinical history and examination, blood tests, and ophthalmologic, otologic, dermatologic, gastroenterologic, nephrologic, hematologic, and neurologic examinations. If extracardiac examinations do not reveal a plausible cause for RCMP, endomyocardial biopsy is indicated.
 ...
PMID:Extracardiac medical and neuromuscular implications in restrictive cardiomyopathy. 1768 Jun 17