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 results of kidney transplantation in a variety of renal diseases have been analyzed. The diseases causing end-stage kidney failure in recipients were Alport syndrome, amyloidosis, cystinosis, diabetes mellitus, Fabry disease, familial nephritis, gout, medullary cystic disease, oxalosis, and systemic lupus erythematosus. The data indicate that renal transplantation is justifiable and parallels functional results for the more common causes of end-stage renal disease in all but Fabry disease and oxalosis. Although Fabry disease did not recur in any grafted kidney, only three patients have a functioning graft one year after transplantation. From a group of ten patients with oxalosis who received a total of 14 kidneys, only one survives. In no other metabolic disease, except one instance of primary amyloidosis, did the metabolic disease notably affect the transplant as it did in oxalosis.
 ...
PMID:Renal transplantation in congenital and metabolic diseases. A report from the ASC/NIH renal transplant registry. 80 49

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

Hyperlipidemia and lipoprotein abnormalities are often encountered in patients with nephrotic syndrome or chronic renal disease and also in those undergoing haemodialysis and with renal transplant. Even though the significance of lipid deposition in renal tissue and the role of lipoproteins in the pathogenesis of renal disease in man is unclear, experimental and clinical data indicate a possible damaging effect of a disturbed lipid metabolism on the kidney. In humans, glomerular lipid deposition is observed in genetic diseases such as Fabry's disease, lecithin:cholesterol acyltransferase activity (LCAT) deficiency and arteriohepatic dysplasia, and in diseases with acquired disturbance of lipid metabolism such as nephrotic syndrome and cholestatic liver disease. Studies on animals with lupus nephritis, aminonucleoside nephrosis, reduced renal mass, diabetes mellitus or systemic hypertension have shown that cholesterol can increase the incidence of glomerulosclerosis. As most of these studies have been performed in the rat, which has a different lipoprotein profile to that of man, these results should be carefully interpreted with regard to their relevance for humans. In vitro cell culture studies on human glomerular cells have given some preliminary insights into the cellular mechanisms of lipid induced glomerular damage. Apo E-containing lipoproteins, which are pathologically elevated in many renal diseases, are avidly taken up by human mesangial cells. These cells seem to play a central role in the initiation of glomerulosclerosis by inducing proliferation and production of excess extracellular matrix. Lipoproteins are able to stimulate DNA synthesis in these cells, and increase the synthesis of mitogens and extracellular matrix protein. The pathogenic role of oxidized lipoproteins has not yet been defined. Human mesangial cells do not seem to take up these modified lipoproteins. However, macrophages infiltrate glomeruli and may constitute the stimulus for the generation of minimally modified lipoproteins and their cellular uptake. The data from animal experiments suggest that treatment that corrects hyperlipidemia may have an ameliorative effect on renal function. Thus, there are strong indications that lipoproteins may play a critical role in mediating the development of glomerulosclerosis.
 ...
PMID:The role of lipids in nephrosclerosis and glomerulosclerosis. 794 52

The detection of a cataract in combination with a neurological deficit may provide the physician with important diagnostic help. But a minority of underlying diseases (angiokeratoma corporis diffusum, cerebrotendinous xanthomatosis, diabetes mellitus, galactosemia, hypocalcemia, Refsum's disease, Wilson's disease; Charles Bonnet syndrome; relapsing Perichondritis; adverse effects of medication and intoxications) can be treated causally. Therefore they are summed up and discussed in this paper.
 ...
PMID:[Treatable diseases of the nervous system with cataract formation]. 848 73

Glomerulonephritis is a major cause of end-stage renal disease (ESRD) and is the primary disease in over a third of patients undergoing renal transplantation. An understanding of the incidence and clinical significance of recurrent glomerulonephritis posttransplantation is therefore essential. Indeed, all forms of glomerulonephritis have been reported to recur histologically after renal transplantation, but the incidence and severity of clinical recurrence varies greatly according to the type of glomerular disease. Large registries report that between 5% to 10% of allografts fail secondary to recurrence of primary disease. This review attempts to clarify some of the salient clinical features of recurrent glomerulonephritis from a body of literature full of anecdotal reports and retrospective studies. There are several excellent reviews on recurrent glomerulonephritis; this review aims to complement these by focusing on more recent developments in the field. Development of de novo glomerulonephritis in the transplant will also be discussed. The recurrence of metabolic diseases such as diabetes mellitus, cystinosis, Fabry's disease, and primary hyperoxaluria will not be discussed.
 ...
PMID:Recurrent and de novo glomerulonephritis in the renal allograft. 1074 58

Interest in the diagnosis and treatment of Fabry disease has been greatly stimulated by the availability of Food and Drug Administration-approved, effective enzyme replacement therapy. This review will update the progress in this area since enzyme replacement therapy has become available. Fabry disease is often associated with proteinuric chronic kidney disease (CKD), and it appears that the treatment paradigms that have proven to be so effective in diabetes mellitus and other forms of proteinuric kidney disease are also effective in conjunction with enzyme replacement therapy for treating the kidney manifestations of Fabry disease. As such, Fabry disease represents an interesting example of progressive proteinuric kidney disease in which the usual blood pressure is lower than in other forms of CKD. This makes the use of effective antiproteinuric therapy challenging, especially considering the autonomic dysfunction that appears to be part of the disease. Comprehensive therapy for Fabry disease includes enzyme replacement therapy and all of the adjunctive therapies that are currently used to treat all forms of proteinuric CKD. It is anticipated that this approach will preserve kidney function and also benefit the cardiac and cerebrovascular systems in patients with Fabry disease.
 ...
PMID:Diagnosis and management of kidney involvement in Fabry disease. 1658 Jun 15

We report two cases of heterozygous Fabry disease with severe organ damage. Case 1 was a 47-year-old woman. In April 1977, at the age of 27 years, she had proteinuria and edema around the 26th week of her second pregnancy and was diagnosed as toxicosis of pregnancy. She had proteinuria after the delivery. In 1990, a renal biopsy showed zebra bodies under electron microscopic findings, and the patient was diagnosed as Fabry disease. In 1998, a myocardial biopsy showed identical findings. The patient developed severe hypertension and decreased renal function, and alpha-galactosidase enzyme replacement therapy was initiated. However, despite treatment, she was started on dialysis in 2004. Case 2 was a 40-year-old woman. In March 2003, the patient presented with severe hypertension. The patient had cerebral infarction, cardiac hypertrophy, old myocardial infarction and renal failure without diabetes mellitus, hyperlipidemia and collagen disease. The patient was diagnosed as Fabry disease from persistent numbness and pain in the four extremities, a family history of mortality due to heart disease, and skin biopsy findings. She is currently undergoing enzyme replacement therapy. It is generally known that female Fabry disease patients are asymptomatic or mildly symptomatic, as were the present two patients, but some can have marked organ disorders. Hence, even in female patients, it is necessary to consider Fabry disease as a causative disease of chronic renal failure.
 ...
PMID:[Two cases of heterozygous Fabry disease]. 1691 64

The replacement of the oxygen-containing ring (pyranose, furanose) of monosaccharides by a nitrogen-containing ring (pyrrolidine, piperidine) leads to a particularly interesting class of glycomimetics: iminosugars. The first synthesis of such a sugar analog by Prof. H. Paulsen in 1966 (5-amino-5-deoxy-D-glucose) was followed by the discovery in Japan, a few months later, of the same compound from bacterial extracts by S. Inouye. The compound was named nojirimycin. Whereas this compound was shown in 1966 to exhibit modest antibiotic activities, the properties of iminosugars as powerful glycosidase inhibitors were discovered only many years later (1976) by chemists at Bayer. Since then, these compounds have been extensively studied and other biological properties have been discovered: inhibition of glycosyltransferases, of glycogen phosphorylase, of purine nucleoside phosphorylases, etc. The first therapeutic agent of this family is Miglitol, a drug that is used to modulate sugar absorption in the case of non-insulin-dependent diabetes; a second iminosugar has been recently put on the market, N-butyl-1-deoxynojirimycin, under the trade name Zavesca, for the treatment of lysosomal diseases (Gaucher disease in particular). Other therapeutic applications are under investigations, for example for the treatment of certain forms of cancer, of Fabry disease and viral infections (hepatitis B).
 ...
PMID:[Iminosugars: current and future therapeutic applications]. 1729 48

Renal transplantation (Tx) is the treatment of choice for end-stage renal disease. The incidence of acute rejection after renal Tx has decreased because of improving early immunosuppression, but the risk of disease recurrence (DR) is becoming relatively high, with a greater prevalence in children than in adults, thereby increasing patient morbidity, graft loss (GL) and, sometimes, mortality rate. The current overall graft loss to DR is 7-8%, mainly due to primary glomerulonephritis (70-80%) and inherited metabolic diseases. The more typical presentation is a recurrence of the full disease, either with a high risk of GL (focal and segmental glomerulosclerosis 14-50% DR, 40-60% GL; atypical haemolytic uraemic syndrome 20-80% DR, 10-83% GL; membranoproliferative glomerulonephritis 30-100% DR, 17-61% GL; membranous nephropathy approximately 30% DR, approximately 50% GL; lipoprotein glomerulopathy approximately 100% DR and GL; primary hyperoxaluria type 1 80-100% DR and GL) or with a low risk of GL [immunoglobulin (Ig)A nephropathy 36-60% DR, 7-10% GL; systemic lupus erythematosus 0-30% DR, 0-5% GL; anti-neutrophilic cytoplasmic antibody (ANCA)-associated glomerulonephritis]. Recurrence may also occur with a delayed risk of GL, such as insulin-dependent diabetes mellitus, sickle cell disease, endemic nephropathy, and sarcoidosis. In other primary diseases, the post-Tx course may be complicated by specific events that are different from overt recurrence: proteinuria or cancer in some genetic forms of nephrotic syndrome, anti-glomerular basement membrane antibodies-associated glomerulonephritis (Alport syndrome, Goodpasture syndrome), and graft involvement as a consequence of lower urinary tract abnormality or human immunodeficiency virus (HIV) nephropathy. Some other post-Tx conditions may mimic recurrence, such as de novo membranous glomerulonephritis, IgA nephropathy, microangiopathy, or isolated specific deposits (cystinosis, Fabry disease). Adequate strategies should therefore be added to kidney Tx, such as donor selection, associated liver Tx, plasmatherapy, specific immunosuppression protocols. In such conditions, very few patients may be excluded from kidney Tx only because of a major risk of DR and repeated GL. In the near future the issue of DR after kidney Tx may benefit from alternatives to organ Tx, such as recombinant proteins, specific monoclonal antibodies, cell/gene therapy, and chaperone molecules.
 ...
PMID:Disease recurrence in paediatric renal transplantation. 1924 94

Several genetic disorders can present in adult patients with renal insufficiency. Genetic renal disease other than ADPKD accounts for ESRD in 3% of the adult Dutch population. Because of this low prevalence and their clinical heterogeneity most adult nephrologists are less familiar with these disorders. As a guideline to differential diagnosis, we provide an overview of the clinical manifestations and the pathogenesis of the main genetic disorders with chronic renal insufficiency surfacing in adulthood and add an algorithm plus 4 tables. We also indicate where molecular genetics nowadays can be of aid in the diagnostic process. The following disorders are discussed by mode of inheritance: 1) Autosomal dominant: autosomal dominant polycystic kidney disease, nephropathies associated with uromodulin (medullary cystic disease and familial juvenile hyperuricemic nephropathy), renal cysts and diabetes syndrome, nail-patella syndrome, glomerulopathy with fibronectin deposits. 2) Not autosomal dominant: Nephronophthisis, Fabry disease, primary oxalosis, Adenine Phosphoribosyl Transferase deficiency, Alport syndrome, Lecithin-cholesterol acyltransferase deficiency, adult-onset cystinosis.
 ...
PMID:An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review. 2049 59


1 2 3 Next >>