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

An atypical case of Fabry's disease, a rare congenital disorder of glyco-lipid metabolism, associated with sigmoid cancer was reported. A 50-year-old man who had been diagnosed as having atypical form of Fabry's disease complained of lower abdominal pain and difficult defection. A barium enema and an endoscopic examination disclosed sigmoid colon cancer. The cancer was curatively resected. Fabry's disease is often associated with intestinal disease, but the patient with Fabry's disease associated with intestinal malignancy has not been reported.
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PMID:[A case report of atypical Fabry's disease with colon cancer]. 836 76

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)
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PMID:Report on management of renale failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry. 906 83

Neurological symptoms are sometimes triggered by the same mechanisms as are skin manifestations. They include genetic conditions like the epidermal nevus syndrome, the Sneddon syndrome, Fabry disease and others, as well as certain inflammatory disorders like erythematous lupus, Bechet disease. Basically all conditions giving rise to anticoagulation processes may cause simultaneously neurological and cutaneous manifestations. Cerebrovascular stroke is the third most common condition of death in the developed world after cancer and ischemic heart disease. The mechanisms responsible for development of skin manifestations in patients afflicted by stroke are shortly reviewed. Stroke may also influence the already existent skin diseases.
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PMID:Dermatological aspects of cerebrovascular diseases. 1581 40

The prognosis of Fabry disease has changed since enzyme-replacement treatment was introduced. Therefore, early diagnosis is instrumental. We describe a family presenting with chronic renal failure and proteinuria in which classic skin and neurological features were absent and the diagnosis of Fabry disease was difficult and not established until a second family member developed renal abnormalities. A 35-year-old man was admitted because he was overweight and had hypertension, with a serum creatinine level of 1.3 mg/dL (115 micromol/L) and protein excretion of 870 mg/d. Because 1 brother, who died years ago at the age of 32 years of acute myeloid leukemia, also had chronic renal failure and proteinuria, the diagnosis of Fabry disease was entertained. In the index patient, acroparesthesia, hypohidrosis, pain, angiokeratomas of the skin, and cornea verticillata suggesting Fabry disease were absent. Conversely, renal biopsy showed typical globotriaosylceramide deposits, and leukocyte alpha-galactosidase (alpha-GLA) A activity was decreased. Analysis of the alpha-GLA gene showed the mutation E66K. The mutation also was found in another asymptomatic 30-year-old brother who also had chronic renal failure and proteinuria, but normal extrarenal findings. In the brother who died, Fabry disease, missed at autopsy because of cancer-related findings, could be confirmed after repeated review of histological slides. Mutation carriers also included the mother, a sister (both without abnormalities), and a nephew (with episodic pains in his feet). We conclude that familial chronic renal failure combined with proteinuria is suggestive of Fabry disease, and such specific mutations as E66K predominantly may affect the kidneys.
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PMID:Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys. 1586 41

Persistent microscopic hematuria is present in about 6% of the population, but probably only a small minority have hematuria that does not originate from the glomerulus. Careful analysis of phase-contrast urine microscopy by a skilled observer is critically important in the investigation of hematuria. In glomerular disease, urine microscopy often is second only to renal biopsy examination in helping make a diagnosis. Glomerular and nonglomerular hematuria are distinguished easily on phase-contrast urine microscopy or by an automated peripheral blood cell counter. However, urine microscopy provides additional information about casts and other features that may enable such disparate diagnoses as Fabry's disease, sickle cell disease, and cystine calculi to be made. Macroscopic nonglomerular hematuria is of particular significance because it is much more likely than microscopic hematuria to be associated with malignancy. Macroscopic hematuria originating from the glomerulus indicates the presence of crescentic disease, which requires urgent assessment by renal biopsy examination. We advocate a renal biopsy examination in any individual with a persisting urinary erythrocyte count greater than 100,000/mL. Thirty percent of patients with isolated microscopic hematuria have mesangial immunoglobulin A glomerulonephritis (IgAN) shown on biopsy examination and 20% to 40% of these patients will progress to renal failure without treatment.
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PMID:The investigation of hematuria. 1588 Mar 21

Gene expression profiling by microarray technologies has been successfully applied to study the transcriptional changes that occur in tissues such as heart, vessels and blood cells in different cardiovascular disorders. Such studies have been performed in human cardiovascular syndromes and in animal models with the aim of unraveling the complex molecular pictures underlying human pathophysiology. As already observed in cancer research, gene expression studies in humans may provide a finer molecular classification of patients with cardiovascular diseases and indicate new markers useful for prognostic and therapeutic strategies. In this paper, we present the findings obtained with microarray platforms to explore transcriptome alterations in cardiovascular diseases. To describe the potential of global expression profiling approach in this field, we have chosen to review the genomic findings obtained in some classic heart diseases with genetic transmission such as hyperthrophic cardiomyopathy and Fabry disease, together with findings obtained in common multifactorial cardiovascular disorders such as heart failure, atherosclerosis and infarction. Wherever feasible, we present the results obtained in patients together with those obtained in the corresponding animal and cellular models.
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PMID:Differential gene expression profiling in genetic and multifactorial cardiovascular diseases. 1702 Jul 63

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).
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PMID:[Iminosugars: current and future therapeutic applications]. 1729 48

AAV (adeno-associated virus) vectors are considered to be promising gene-delivery vehicles for gene therapy, because they are derived from non-pathogenic virus, efficiently transduce non-dividing cells, and cause long-term gene expression. Appropriate AAV serotypes are utilized depending on the type of target cells. Among various neurological disorders, Parkinson's disease (PD) is one of the most promising candidates of gene therapy. PD is a progressive neurodegenerative disorder that predominantly affects dopaminergic neurons in the substantia nigra. One of the major approaches to gene therapy of PD is the intrastriatal expression of dopamine (DA)-synthesizing enzyme genes. As for the initial step of clinical application, AAV vector-mediated AADC (aromatic L-amino acid decarboxylase; the enzyme converting L-DOPA to DA) gene transfer in combination with oral administration of L-DOPA would be appropriate, since DA production can be regulated by adjusting the dose of L-DOPA. Second, intramuscular injection of AAV vectors is appropriate to protein-supplement gene therapy. Monogenic diseases such as hemophilia and Fabry disease are suitable candidates. Regarding cancer gene therapy, AAV vectors may be utilized to inhibit tumor angiogenesis, metastasis, and invasion. When long-term transgene expression in stem cells is needed, a therapeutic gene should be introduced with a minimal risk of insertional mutagenesis. To this end, site-specific integration into the AAVS1 locus on the chromosome 19 (19q13.4) by using the integration machinery of AAV would be particularly valuable.
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PMID:[Gene therapy using AAV]. 1804 Jan 54

The application of a photoacoustic imaging instrument based upon a Fabry-Perot polymer film ultrasound sensor to imaging the superficial vasculature is described. This approach provides a backward mode-sensing configuration that has the potential to overcome the limitations of current piezoelectric based detection systems used in superficial photoacoustic imaging. The system has been evaluated by obtaining non-invasive images of the vasculature in human and mouse skin as well as mouse models of human colorectal tumours. These studies showed that the system can provide high-resolution 3D images of vascular structures to depths of up to 5 mm. It is considered that this type of instrument may find a role in the clinical assessment of conditions characterized by changes in the vasculature such as skin tumours and superficial soft tissue damage due to burns, wounds or ulceration. It may also find application in the characterization of small animal cancer models where it is important to follow the tumour vasculature over time in order to study its development and/or response to therapy.
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PMID:In vivo high-resolution 3D photoacoustic imaging of superficial vascular anatomy. 1916 38

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.
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PMID:Disease recurrence in paediatric renal transplantation. 1924 94


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