1/40. Induced sputum examination: diagnosis of pulmonary involvement in Fabry's disease.Fabry's disease is a rare inherited metabolic disorder caused by a deficiency in the enzyme alpha-galactosidase A. It can affect almost every organ, including the lungs. Confirmation of lung involvement has depended on invasive bronchial biopsy specimens or brushings to confirm the presence of typical lamellar inclusion bodies within bronchial epithelial cells. We report a patient with known Fabry's disease in whom these inclusion bodies were identified by examination of induced sputum.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
2/40. A new case of alpha-n-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation.alpha-n-acetylgalactosaminidase (alpha-NAGA) deficiency is a rare hereditary lysosomal storage disease, and only three alpha-NAGA-deficient patients with angiokeratoma corporis diffusum (Kanzaki) have been described. We report a further case in a 47-year-old Japanese woman, the product of a consanguineous marriage. The remarkable findings in this patient were her normal intelligence, Meniere's syndrome, disturbance of peripheral sensory nerves, hearing loss and cardiac hypertrophy. alpha-NAGA enzyme activity in her plasma was 0.77% of the normal value. Other enzyme activities, such as alpha-galactosidase, beta-galactosidase, alpha-l-fucosidase, beta-mannosidase and aspartylglucosaminidase, were within normal limits. A large quantity of amino acid O-glycans was detected in her urine. Gene analysis revealed a novel point mutation (G-->A transition) at nucleotide 11018 (986 in the cDNA) resulting in an Arg-329-Gln substitution. Kanzaki disease has the same enzyme defect as Schindler disease, but the manifestations are quite different.- - - - - - - - - - ranking = 0.84150760238863keywords = nerve (Clic here for more details about this article) |
3/40. The ultrastructural study in a case of fabry disease.An investigation of the ultrastructural study was conducted on specimens from a typical patient with fabry disease. Numerous characteristic cytoplasmic inclusions were observed in the vascular endothelial cell, pericyte, smooth muscle cell, nerve and eccrine sweat glands, the lamellar pattern of which were considerably variable in various types of gland cells. Large vacuolar inclusions predominated in clear cells of the secretory coil; lesser vacuoles were also seen in the coiled duct, and the basal cells of the straight duct toward the coiled duct displayed mulberry-like figures. There were some clear cells showing cell damage and necrosis in the secretory coil. Lamellated bodies were noted in the axons and schwann cells around the eccrine sweat glands. The small blood vessels around the eccrine glands were narrowed by swollen endothelial cells with heavy inclusions. These intracytoplasmic deposits may be responsible for the decreased sweating ability in fabry disease. The factors related to hypohidrosis are also discussed.- - - - - - - - - - ranking = 0.84150760238863keywords = nerve (Clic here for more details about this article) |
4/40. enzyme replacement therapy in Anderson-Fabry's disease: beneficial clinical effect on vital organ function.Two recent randomized trials pointed out the beneficial effect of enzyme replacement therapy on biochemical parameters in patients with Anderson-Fabry's disease. Clinical end-points, such as amelioration or stabilization of renal function deterioration, or improvement of left ventricular hypertrophy have not been evaluated in depth. We report the case of a patient whose moderately impaired renal function was stabilized with the start of enzyme treatment. In addition, left ventricular hypertrophy tended to regress. To our knowledge this is the first observation of clinical efficacy of the enzyme replacement therapy in Anderson-Fabry's disease in patients with moderately impaired renal function.- - - - - - - - - - ranking = 4keywords = organ (Clic here for more details about this article) |
5/40. Clinical features and genetic analysis of a Chinese kindred with Fabry's disease.BACKGROUND: Fabry's disease is an X-linked recessive inborn error of glycosphingolipid catabolism resulting from deficient activity of lysosomal enzyme alpha-galactosidase A causing occlusive microvascular diseases affecting the kidney, heart, peripheral nerves and brain. It is an uncommon disease in the Oriental population. methods AND RESULTS: We report a Chinese kindred of Fabry's disease and the relevant clinical features are discussed. The diagnosis of Fabry's disease was based on serum alpha-galactosidase A activity and typical histological features from renal biopsy in the index patient. Genetic analysis of two hemizygous male patients revealed a missense mutation predicting a leucine to proline substitution (L14P) in the alpha-galactosidase gene causing classical Fabry's disease in this family. This is a novel point mutation not described previously in the literature and the second report describing novel genetic mutations for Fabry's disease in Chinese patients. CONCLUSIONS: Fabry's disease is rare in Chinese patients but this diagnosis should be considered in patients with positive family history of kidney disease and relevant clinical features.- - - - - - - - - - ranking = 0.84150760238863keywords = nerve (Clic here for more details about this article) |
6/40. fabry disease in a renal allograft.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.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
7/40. Ischemic optic neuropathy in a female carrier with Fabry's disease.We report ocular findings of a patient with anterior ischemic optic neuropathy (AION) and cilioretinal artery occlusion in a female carrier of Fabry's disease. fluorescein angiography revealed delayed filling of the upper and temporal part of peripapillary choroidal vessels and capillaries of the right optic disk and late filling of the cilioretinal artery. CT scanning was performed several times in early stages and demonstrated thickening of the intraorbital optic nerve due to ischemic edema. About 5 months later, the fellow eye showed optic disk edema, an early sign of AION, and was treated by systemic corticosteroid and urokinase whereby AION did not progress.- - - - - - - - - - ranking = 0.84150760238863keywords = nerve (Clic here for more details about this article) |
8/40. neurologic manifestations of Kanzaki disease.We describe the neurologic findings in a patient with alpha-n-acetylgalactosaminidase deficiency (Kanzaki disease). Clinical and electrophysiologic studies revealed sensory-motor polyneuropathy, and sural nerve pathology showed decreased density of myelinated fibers with axonal degeneration. The patient had mildly impaired intellectual function with abnormal brain MRI and sensory-neuronal hearing impairment with repeated episodes of vertigo attacks. These findings suggest that Kanzaki disease may develop neurologic complications in the CNS and peripheral nervous system.- - - - - - - - - - ranking = 0.84150760238863keywords = nerve (Clic here for more details about this article) |
9/40. Neuropathy and Fabry's disease.Fabry's disease is a multisystem disorder that is commonly associated with a painful, debilitating neuropathy. The common coexistence of arthralgias and an elevated erythrocyte sedimentation rate may lead to the misdiagnosis of a rheumatic condition. We report a 38-year-old man who was evaluated for progressive neuropathy and limb pain in the setting of longstanding arthralgias, presumed juvenile rheumatoid arthritis, and past renal transplantation. Histopathologic assessment of nerve and muscle biopsy specimens led to the diagnosis of Fabry's disease, thus allowing the patient to receive enzyme replacement therapy that may slow progression and preserve the transplanted kidney.- - - - - - - - - - ranking = 0.84150760238863keywords = nerve (Clic here for more details about this article) |
10/40. Bilateral femoral head and distal tibial osteonecrosis in a patient with fabry disease.fabry disease is a lysosomal storage disease caused by alpha-galactosidase A deficiency. The classic presentation of fabry disease involves multiple organs, including kidneys, heart, skin, eyes, and nervous system. osteonecrosis is rarely reported in patients with fabry disease. In this article, we describe the case of a 37-year-old white man who had fabry disease and no risk factors for osteonecrosis but who developed osteonecrosis in both femoral heads and in an unusual site, bilateral distal tibiae. Results of mutation analysis showed a nonsense mutation (R227X) in the alpha-galactosidase A gene. This case suggests that fabry disease may be a risk factor for development of osteonecrosis. The enzyme replacement therapy currently available may be an effective method of preventing this complication.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
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