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)

Little information is available concerning hereditary renal disease in the Irish population. We studied the prevalence and types of hereditary renal disease that lead to end stage renal failure by looking at the underlying hereditary disease in our dialysis populations and in all patients transplanted at the national unit. Twenty eight (15.7%) of 178 dialysis patients had hereditary renal disease with a mean age of 31 years (range nine to 65), and a male to female ratio of 1.54:1. Eighty-nine of 842 patients (10.3%) with renal transplants had hereditary renal disease with a male to female ratio of 1.63:1. The commonest entity was autosomal dominant polycystic kidney disease (68% in dialysis patients, 64% in transplants), and the next most frequent was Alport's syndrome (21.4%, 16.9%). Nephronophthisis was the third most common problem (10.7%, 10.1%) followed by hereditary non-Alport's nephritis, Fabry's disease, cystinosis and familial interstitial nephritis. The high prevalence of hereditary renal disease among the dialysis and renal transplant population emphasises the need for proper registration of the nature of renal disease in this group, and for a comprehensive genetic counselling service in this country.
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PMID:Prevalence of hereditary renal disease. 236 28

A total of 120 patients with chronic renal failure secondary to parenchymatous kidney disease were biopsied. Percutaneous approach was tried and open technique was employed when there was contraindication to or failure of the percutaneous technique. In 72 cases the histopathologic lesions were identified, in 30 cases it was not possible to identify them and in 18 cases there was no sufficient kidney tissue. The diagnosis was very critical in at least 10 cases: there were 3 cases of primary oxalosis, one case of haemolytic uraemic syndrome, one case of necrotizing glomerulonephritis, one case of Wagner's granulomatosis, 3 cases of focal segmental glomerulosclerosis and one case of Fabry's disease. All but one of these were not diagnosed clinically. There was no patient mortality, and morbidity was significantly higher after open approach. We concluded that kidney biopsy in patients with chronic renal failure is mandatory especially if they are going to be transplanted and it is relatively safe especially when the percutaneous technique is employed.
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PMID:Value of renal biopsy in chronic renal failure. 328 73

Skin symptoms in renal disease occur in a series of rare inherited or acquired diseases affecting the kidneys as well as the skin (amyloidosis, vasculitis, angiokeratoma diffusum corporis Fabry) (table 1). Chronic renal failure, regardless of its origin, often causes important skin symptoms, such as pruritus, the typical complexion with elastosis seen in uremic patients, porphyria cutanea uremica, metastatic calcifications, skin necrosis due to uremic small arteries disease with medial calcification and intimal hyperplasia, perforating dermatoses, nail lesions and symptoms of the oral mucosa (table 2). The following article reviews the pathogenesis and the limited possibilities of treatment for skin symptoms in chronic renal failure.
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PMID:[Skin changes in kidney diseases and in chronic kidney insufficiency]. 775 65

There are no reports of anesthesia for a patient with Fabry's Disease in Japan. Fabry's Disease is a rare hereditary disease that is characterized by alpha-galactosidase deficiency caused by deposition of glycolipid in many organs. The disease may be complicated by cardiac ischemic disease, neurological disorder and renal failure. The patient is a 45-year-old female with cholelithiasis who underwent cholecystectomy. This patient had been hospitalized repeatedly for the past 15 years because of the chronic pyelits, and hyperglycemia, and nephrosis. She developed chronic renal failure, hemodialysis was started when diagnosis of Fabry's Disease was made at age of 41. Preoperative electrocardiogram revealed ischemic change on leads II, V5 and V6. Nifedipine was administered for hypertension. The anesthesia was induced with thiopental followed by vecuronium for endotracheal intubation, and maintained with nitrous oxide, oxygen and isoflurane. Accompanied by nicardipine for hypertension, and vecuronium for muscle relaxation using a neurotransmission monitor (Relaxograph), nitroglycerin was continuously infused. We avoided the effect of atropine for reversal of muscle relaxation because most of the patients were complicated with hypohidrosis. During administration of nitroglycerin and nicardipine, the neuromuscular blocking effects of vecuronium could be prolonged. The neuromuscular monitoring was useful in this case.
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PMID:[The anesthetic management of a patient with Fabry's disease]. 852 62

Fabry's disease is a genetic disorder caused by the absence of alpha-galactosidase (alpha-Gal), the gene of which is carried on the long arm of the X chromosome. This enzymatic defect leads to an accumulation of glycosphingolipids in the plasma and lysosomes of endothelial, perithelial, and smooth muscle cells, especially involving those of the cardiovascular, renal and cerebrovascular systems. We report one male case of Fabry's disease with renal deterioration. A 36-year-old man who was a classic case with acroparesthesia, angiokeratoma, and hypohidrosis from 10 years of age, was diagnosed to be a hemizygote of Fabry's disease at 27 years as a result of severe decreased alpha-Gal activity of his peripheral white blood cells. This patient was found to have a point mutation of a G to A transition in exon 1. In May, 1989, he was reported to have proteinuria with normal renal function and admitted to our hospital due to renal deterioration in September, 1993. Laboratory examinations revealed a serum urea nitrogen of 65 mg/dl and creatinine value of 6.9 mg/dl. Urinary protein excretion was 3.9 g/day and urinary sugar was negative. On the renal biopsy specimens, light microscopic examinations revealed multiple sclerosing and collaptic lesions in glomeruli without severe tubulo-interstitial damage, but with stenotic change of the small arteries and arterioles. Electron microscopic examinations revealed a large number of electron dense deposits in the tubules. We diagnosed this case as Fabry's disease with chronic renal failure, however the pathogenesis of this renal progressive deterioration remained obscure. In this case, degenerative changes in the renal vessels due to Fabry's disease may be associated with rapid deterioration in renal function.
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PMID:[A case of Fabry's disease with chronic renal failure]. 1044 95

Fabry disease is a rare X-linked disorder, characterized by deficient activity of the lysosomal enzyme alpha-galactosidase A. This leads to systemic accumulation of the glycosphingolipid globotriaosylceramide (Gb3) in all body tissues and organs, including the kidney. Renal manifestations are less evident in female heterozygotes than in male hemizygotes, according to the Lyon hypothesis. Accumulation of Gb3 occurs mainly in the epithelial cells of Henle's loop and distal tubule, inducing early impairment in renal concentrating ability; involvement of the proximal tubule induces Fanconi syndrome. All types of glomerular cells are involved, especially podocytes, and glomerular proteinuria may occur at a young age. The evolution of renal Fabry disease is characterized by progressive deterioration of renal function to end-stage renal failure (ESRF). Ultrastructural study of kidney biopsies reveals typical bodies in the cytoplasm of all types of renal cells, characterized by concentric lamellation of clear and dark layers with a periodicity of 35-50 A. Management of progressive renal disease requires dietetic and therapeutic strategies, usually indicated in developing chronic renal failure, with dialysis and renal transplantation required for patients with ESRF. The recent development of enzyme replacement therapy, however, should make it possible to prevent or reverse the progressive renal dysfunction associated with Fabry disease.
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PMID:Renal pathological changes in Fabry disease. 1175 81

Fabry disease is an X-linked inherited disorder of metabolism due to mutations in the gene encoding alpha-galactosidase A, a lysosomal enzyme. The enzymatic defect leads to the systemic accumulation of incompletely metabolised glycosphingolipids, primarily globotriaosylceramide, in plasma and lysosomes within various tissues. Inability to prevent the progression of glycosphingolipid deposition causes significant morbidity, associated with significant impact on quality of life and diminished lifespan from early onset strokes, heart attack and progressive renal failure. The disease manifests primarily in hemizygous males; however, there is increasing recognition that heterozygous (carrier) females may also develop disease-related complications. Indeed, most heterozygotes present with cardiac, renal or neurological symptoms, although with later-onset and to a lesser extent than is observed in hemizygotes. Until recently, medical management was symptomatic, consisting of partial pain relief with analgesic drugs (carbamazepin, gabapentin), kidney and vascular protection with angiotensin-converting enzyme inhibitors, statins and folic acid, whereas renal transplantation or dialysis is available for patients experiencing end stage renal failure. The ability to produce high doses of alpha-galactosidase A has opened the way to preclinical studies, and enzyme replacement therapy has recently been validated as a therapeutic agent in clinical trials. Long-term safety and efficacy of replacement therapy are currently being investigated. Increasing knowledge of the natural history of Fabry disease and greater experience with enzyme therapy should enable optimal patient care. The complexity and relative rarity of Fabry disease necessitates a multi-disciplinary team approach that may be facilitated by a disease registry.
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PMID:Fabry disease: recent advances in enzyme replacement therapy. 1238 6

Fabry disease is an X-linked recessive lysosomal storage disorder caused by a partial or complete deficiency of alpha-galactosidase A. Intracellular accumulation of globotriaosylceramide, the glycolipid substrate of this enzyme, leads to severe painful neuropathy with progressive renal, cardiovascular, and cerebrovascular dysfunction and early death. Men are predominantly affected but many female carriers have similar clinical involvement, including increased risk of stroke. Physical stigmata, such as angiokeratomas in skin and mucous membranes and characteristic benign corneal abnormalities, facilitate identification of Fabry disease. The finding of a marked decreased activity of (alpha-galactosidase A in plasma, white blood cells or cultured skin fibroblasts confirms the diagnosis. Treatment thus far has been symptomatic only. Etiology-based therapies are being developed that include enzyme replacement therapy, gene therapy, and substrate deprivation. The recently completed double-blind, placebo-controlled trials of intravenous infusions of (alpha-galactosidase A in patients with Fabry disease demonstrated the safety and efficacy of this treatment. We report a family with Fabry disease composed of hemicygous and heterocygous. The propositus developed chronic renal failure and received a cadaver renal transplant, which remained with adequate renal function during 15 years.
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PMID:[Fabry disease: clinic and enzymatic diagnosis of homozygous and heterozygous. New therapeutic prospects]. 1251 87

A male patient presented with oligosymptomatic Fabry disease (end stage renal failure and non-obstructive cardiomyopathy) at around 30 years of age. His leukocyte alpha-galactosidase activity (alpha-gal) was 2.6% of controls. A 50-year-old sister had similar cardiac symptoms and her asymptomatic heterozygous daughter (33 years) had normal enzyme activity. All three patients carried a novel, 6bp insertion on exon 7 of the AGAL gene. The majority of male Fabry patients carrying mutations in exon 7 have residual alpha-gal below 1% and suffer from neuropathic pain. Comparable oligosymptomatic phenotypes in Caucasian patients carry a common mutation on exon 6 (R301Q) and have a significantly later onset. The course of the disease is likely to be altered by recombinant enzyme therapy in the future. Therefore, a thorough documentation of phenotypes, residual activities and underlying genotypes is of current interest.
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PMID:A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease. 1270 99

Incidental findings of rare diseases in organ donors can be seen in allograft biopsies that may have profound implications for the recipient and for the donor and their family. Fabry disease is an X-linked recessive lipid storage disease with cardiovascular, renal and lenticular abnormalities. Phenotypic expression in female heterozygote carriers depends on lyonization. Minimal data exists on outcomes of transplanted kidneys from carriers of Fabry disease. We report a patient with ESRD secondary to focal sclerosis who received a HLA-identical transplant from her sister whose pretransplant donor work up was completely negative. Post-transplant, while pregnant, the recipient developed increasing proteinuria and was biopsied. The biopsy showed extensive myelin figures consistent with Fabry disease. Subsequent genetic, enzymatic and pedigree analysis confirmed the diagnosis in the recipient, the donor and the donor's son. Two years post-transplant the patient continues to have non-nephrotic range proteinuria with normal serum creatinine.
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PMID:Fabry disease in a renal allograft. 1285 41


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