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)

Fabry disease is a rare lipid storage disorder, often silent until adulthood. We report the case of a rural, primary care patient whose initial presentation was that of progressive weakness from anemia. The anemia was determined to be of renal origin, and led to a diagnosis of Fabry disease. Although less than 500 cases of this disease have been reported in the literature, such events remind the clinician that the environment of rural practice is not immune to unusual and diverse medical problems.
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PMID:A case of Fabry disease (alpha-galactosidase A deficiency). 805 96

This paper refers to selected reports on nephrology and renal dialysis therapy presented on the XXXVIII Congress of European Renal Association--European Dialysis and Transplant Association (ERA-EDTA), held in 2001 in Vienna. Special attention was paid to diagnosis and therapy of renal anaemia, calcium-phosphate metabolism, Fabry's disease and vascular access in hemodialysed patients.
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PMID:[Report from the XXVIII Congress of ERA-EDTA, Vienna, June, 2001]. 1262 71

The World Congress of Nephrology was held in Berlin, Germany, June 8-12, 2003. The meeting offered the newest advances in basic and clinical nephrology science and was attended by about 9,000 scientists and clinicians from around the world. During the congress, results of the treatment of Fabry's disease with enzyme replacement therapy, the results of the treatment of anemia in patients with chronic kidney disease with new erythropoietic agents (darbepoetin alfa, continuous erythropoiesis receptor activator), and the management of secondary hyperparathyroidism and calcium-phosphorus disorders in uremia with calcimimetic agents and new phosphate binders, such as lanthanum carbonate, were discussed. Furthermore, recent studies evaluating the efficacy and safety of new immunosuppressive agents and their combination for the treatment of renal transplant recipients were also presented.
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PMID:Recent advances in nephrology. 1466 43

A 48-year-old woman presented with acute unilateral ischaemia of the left hand. She had a background of chronic peripheral neuropathic pain, palpitations, anaemia and an episode of superficial thrombophlebitis. Physical examination revealed non-blanching purple discoloration of her left fingers and her left thumb, index finger and thenar eminance appeared ischaemic. Digital subtraction angiography of the left hand demonstrated reduced flow. Skin punch biopsy histology was unremarkable. The diagnosis of Fabry disease was made on urine lipid profile analysis and confirmed by reduced peripheral blood leukocyte alpha-galactosidase A activity.
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PMID:Fabry disease in a heterozygote presenting as hand ischaemia and painful acroparaesthesia. 1722 2

A 39-year-old male with classical Anderson-Fabry disease (AFD) and long-standing idiopathic splenomegaly, who had been on haemodialysis since the age of 24, was splenectomised for symptomatic pancytopaenia. Spleen enlargement was first noted at clinical presentation, at age 16, but despite thorough investigation its cause remained unclear. Anaemia, leukopaenia and thrombocytopaenia were first observed a few years thereafter, but well before the start of dialytic treatment. On gross pathological examination the spleen weighed 700 g and had a fibrocongestive appearance. Histologically, it showed expansion of the red pulp and decreased white pulp. Some histiocytes and many of the endothelial cells lining the sinusoids had vacuolated cytoplasm with argyrophilic material within, suggesting their involvement in the storage pathology of AFD. In a retrospective review of our cohort of patients with classical AFD (n = 10), complete blood counts showing anaemia, leukopaenia or thrombocytopaenia were found in five, two and four patients, respectively, including a 6-year-old boy, whose spleen was also enlarged. Data from AFD international registries show that peripheral blood cytopaenias, particularly anaemia, are prevalent among these patients. Sinusoidal endothelial involvement resulting in compromise of splenic blood flow may be the cause of congestive splenomegaly and hypersplenism in classical AFD.
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PMID:Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson-Fabry disease. 1876 74

Fabry disease (FD) is a rare disorder resulting from mutations of the alpha-Galactosidase A lysosomal enzyme gene. Accumulation of enzyme substrates leads to multisystemic clinical manifestations and multiorgan progressive damage with high morbidity and mortality. Recombinant enzyme replacement therapy (RERT) now available aims to delay or even avoid the complications of FD. The index case was a 50-year-old man with bone pain since childhood, coarse facies, angiokeratomas, anemia, renal failure, proteinuria, sinus node disease, valvular disease and massive left ventricular hypertrophy and brain ischemic alterations. FD diagnosis was confirmed during hospital admission for bacterial endocarditis leading to death. Family screening revealed an affected brother with acroparesthesia, chronic cough, sinus bradycardia, long QT interval and near-nephrotic proteinuria, now under RERT. Their mother was not screened due to stroke sequelae. This report illustrates the need for early diagnosis, family screening and treatment, aiming to change the natural history of FD.
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PMID:[A family with a rare disease]. 2065 70

We propose a biochemical mechanism for celiac disease and non-celiac gluten sensitivity that may rationalize many of the extradigestive disorders not explained by the current immunogenetic model. Our hypothesis is based on the homology between the 33-mer gliadin peptide and a component of the NMDA glutamate receptor ion channel - the human GRINA protein - using BLASTP software. Based on this homology the 33-mer may act as a natural antagonist interfering with the normal interactions of GRINA and its partners. The theory is supported by numerous independent data from the literature, and provides a mechanistic link with otherwise unrelated disorders, such as cleft lip and palate, thyroid dysfunction, restless legs syndrome, depression, ataxia, hearing loss, fibromyalgia, dermatitis herpetiformis, schizophrenia, toxoplasmosis, anemia, osteopenia, Fabry disease, Barret's adenocarcinoma, neuroblastoma, urinary incontinence, recurrent miscarriage, cardiac anomalies, reduced risk of breast cancer, stiff person syndrome, etc. The hypothesis also anticipates better animal models, and has the potential to open new avenues of research.
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PMID:Extraintestinal manifestations of celiac disease: 33-mer gliadin binding to glutamate receptor GRINA as a new explanation. 2699 Feb 86