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)

A 45-year-old man who developed proteinuria was diagnosed as having Fabry's disease on the basis of renal histological findings and prominent decreases in alpha-galactosidase A activity in blood leukocytes.
Pol J Pathol 1999
PMID:Fabry's disease. Report of the case diagnosed on the basis of routine ultrastructural examination of the renal biopsy. 1041 76

The authors reported the accumulation of osmiophilic myelin-like bodies typical for Fabry's disease in the rebiopsied 19-year-old woman clinically presenting with intermittent mild microhematuria and trace proteinuria. The light microscopy examination of the first kidney biopsy specimen (10 years ago) showed the presence of vacuolated cells in glomeruli, but electron microscopy study was not performed. The family history was negative for renal diseases. A biochemical enzymatic assay for alpha-galactosidase A was not performed. It is concluded that electron microscopy examination of kidney biopsy specimen is important for the investigation of storage diseases.
Pol J Pathol 1999
PMID:The ultrastructural changes in renal biopsy compatible with Fabry's disease. Case report. 1041 77

We report a case of Fabry's disease, diagnosed in a 39-year-old patient treated for 4 years because of glomerulonephritis. The disease manifested itself by the presence of typical petechiae-like skin lesions in the bathing trunk area (angiokeratoma), eye changes, paresthesia, and--in additional investigations--mild proteinuria, lowered creatinine clearance, along with changes in the central nervous system. A biopsy of the kidney revealed the presence of foamy cells in all glomeruli, and in electron microscopy multilamellar bodies (zebra bodies). The diagnose of the disease was confirmed by a marked decrease in leucocyte alpha-galactosidase activity. An early diagnosis of non-inflammatory character of Fabry's disease allows to avoid an unnecessary immunosuppressive treatment.
Pol Arch Med Wewn 1999 May
PMID:[Fabry's disease--late diagnosis in men with chronic nephropathy and skin changes]. 1074 Apr 22

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.
Pol Merkur Lekarski 2002 Nov
PMID:[Report from the XXVIII Congress of ERA-EDTA, Vienna, June, 2001]. 1262 71

A 40-year-old man with Fabry disease, confirmed by decreased leukocyte alpha-galactosidase A activity in 2001, complained of sudden bilateral deafness, as evidenced by clinical history and audiometry. Magnetic resonance of the brain revealed features typical of Fabry disease. Other clinical manifestations of the disease included: angiokeratoma, mild proteinuria with normal renal function, lymphoedema of the lower limbs, pre-excitation syndrome, myocardial hypertrophy.
Pol Arch Med Wewn 2002 Nov
PMID:[Atypical symptoms of Fabry's disease: sudden bilateral deafness, lymphoedema and Lown-Ganong-Levine syndrome]. 1268 50

We report here the course and outcomes of 18-month enzyme replacement therapy in two 43 and 41-year-old brothers with Fabry disease. At 18 months of recombinant alpha-galactosidase A (Fabrazyme) infusions, we observed in the older patient: weight gain, decreased proteinuria (from 4 to 1.5 g/d), stabilization of creatinine clearance, much lower frequency and intensity of angina, and in the younger brother: weight gain, stabilization of creatinine clearance and proteinuria, prolongation of PQ interval and improvement of hearing. However, neurologic manifestations deteriorated over treatment period in both patients. No serious infusion-related side effects were observed.
Pol Arch Med Wewn 2004 Dec
PMID:[First Polish experience with enzyme replacement therapy in patients with Fabry disease]. 1596 14

A theoretical study of a high-finesse Fabry-Perot cavity considering radiation pressure and photothermal displacement is reported. We show that the competition between these two effects induces a different kind of dynamic behavior in such a system, consisting of canard orbits and excitability. The transition between the excitable regime and the canard oscillations, occurring through a supercritical Hopf bifurcation, appears in an order compatible with the van der Pol-FitzHugh-Nagumo equations. Besides its interest as a study of general nonlinear dynamics, the characterization of the effects described is critical for high sensitivity interferometric displacement measurements as those employed for gravitational waves detection.
 ...
PMID:Canard orbits in Fabry-Perot cavities induced by radiation pressure and photothermal effects. 1660 39

To establish the role of electron microscopy in the diagnosis of glomerular diseases we reviewed retrospectively 113 renal biopsies. The biopsies were included in this study if tissue was received for light microscopy, immunofluorescence and electron microscopy. The biopsy was assigned to one of the three following categories on the contribution of the ultrastructural findings to the primary diagnosis: essential, important, and not required. Our study revealed that electron microscopy was essential to establish the primary diagnosis in 35 cases (31.0%), was important, but did not alter the preliminary diagnosis in 15 cases (13.3%) and in 63 cases (55.7%) the ultrastructural examination was not needed to confirm the diagnosis. Electron microscopy was essential to create diagnosis in a total of two cases of thin basement membrane disease, in nephropathy in Alport syndrome, in nephropathy in Fabry disease, and was necessary for establishing final diagnosis in 12 cases (85.7%) of minimal lesion. On the basis of electron microscopy it was also possible to establish the precise diagnosis of subtypes in mesangiocapillary glomerulonephritides, describe the stage of membranous glomerulopathy, and find thickening of glomerular basement membrane in the pre-diabetic state. Moreover, ultrastructural examination was helpful to differentiate membranous and mesangiocapillary glomerulonephritis, minimal change nephropathy and early membranous lesions, and distinguish membranous lupus nephritis from idiopathic membranous nephropathy The electron microscopy findings were not of any help in establishing the diagnosis and did not obtain any valuable information in all cases of amyloid nephropathy and IgA nephropathy, as well as in the majority of focal segmental glomerulosclerosis, extracapillary glomerulonephritides, and mesangial proliferative glomerulopathies. In conclusion, the results showed that in 44.3% of glomerulopathies the ultrastructural study provides fundamental or important diagnostic information, and therefore electron microscopy still remains a useful tool in the diagnosis of glomerular diseases.
Pol J Pathol 2007
PMID:Current position of electron microscopy in the diagnosis of glomerular diseases. 1771 74

We present outcomes of 54 months' agalsidase beta enzyme replacement therapy of two 48- and 46-year-old brothers with Fabry disease. The diagnosis was confirmed in 1997, and at that moment serious damage of internal organs was observed. During enzyme replacement therapy in both brothers the following changes were observed: amelioration of gastrointestinal symptoms, gain of body weight and reduction of cardiac hypertrophy in ECG. In older brother we observed: improvement in coronary blood flow, absence of angina pectoris, dyspnea, partial remission of headache and acroparaesthesia. Reduction of proteinuria, stabilization of creatinine clearance and appearance of perspiration were also noticed. In a younger brother, with a milder form of disease, we observed: improvement of hearing and vertigo, headache reduction, as well as stabilization of kidney function (although proteinuria was slightly increased). Unfortunately, acroparaesthesia and muscle pains in the legs became more severe. Enzyme replacement therapy in Fabry disease, even started in late adulthood, is effective by stabilizing organ function and markedly improving of quality of life.
Pol Arch Med Wewn
PMID:[Clinical stability of Fabry disease in 54 months' enzyme replacement therapy--follow-up of the first Polish study]. 1803 Aug 77

We report a case of a 52-year-old male who has been diagnosed for many years because of chronic diarrhea and proteinuria with concomitant gradually progressing chronic kidney disease. Diagnostic problems associated with the initial diagnosis of amyloidosis as a primary cause of the patient's complaints have been described. Anderson-Fabry disease (AFD) was suspected following comprehensive evaluation that resulted eventually in the exclusion of amyloidosis and the echocardiographic examination showing hypertrophic cardiomyopathy in the patient with no history of hypertension and aortic valve defects. The diagnosis of AFD was confirmed by results of enzymatic tests.
Pol Arch Med Wewn 2008 Nov
PMID:Anderson-Fabry disease: diagnostic problems from gastrointestinal manifestations to the diagnosis of kidney disease. 1914 May 72


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