Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033687 (proteinuria)
 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

From 1960 through 1972, 236 cases of amyloidosis with histologic proof were found. The amyloidosis was primary (without evidence of preceding or coexisting disease) in 132 cases (group 1) and associated with multiple myeloma in 61 (group 2). Secondary amyloidosis appeared in 19 cases (associated with rheumatoid arthritis or osteomyelitis in two-thirds of them). There were 22 patients with amyloid localized to a single organ (bladder, lung, skin, or larynx in more than half of them). Two patients had familial amyloidosis. In group 1 and group 2, the most common presenting symptoms were fatigue, weight loss, edema, dyspnea, light-headedness or syncope, and paresthesias. Symptoms of the carpal-tunnel syndrome were frequent. The liver was palpable in almost 50% of the series, but splenomegaly was an initial finding in less than 10%. Macroglossia was recorded in 26% of group 2 and in 12% of group 1. Enlargement of submandibular structures was noted in about 10% of cases; and purpura, particularly around the eyes, was a significant feature. Substantial numbers of the patients had carpal-tunnel syndrome, nephrotic syndrome, congestive heart failure, sprue, peripheral neuropathy, or orthostatic hypotension. Approximately 50% of patients had renal insufficiency at the time of diagnosis. Proteinuria was found in more than 90%. A monoclonal protein was found in the serum of 49% of group 1 and in 74% of group 2. Monoclonal proteins were found in the urine of 35% and 81%, respectively. Only 12% of patients in group 1 had no monoclonal protein when both serum and urine were analyzed, and all patients of group 2 had a monoclonal protein in the serum or urine when both were analyzed. Lambda light chains were more common than kappa. None of the patients in group 1 had more than 15% plasma cells in the marrow, whereas more than half of group 2 had more than 15% plasma cells. Roentgenograms showed no evidence of skeletal disease in 94% of group 1, but 50% of group 2 had skeletal abnormalities. Rectal biopsy was positive for amyloid in 84% of cases. Kidney, liver, and carpal-tunnel biopsies were positive in 90% or more. Follow-up of all 193 patients in groups 1 and 2 revealed that 80% of group 1 and 97% of group 2 had died. The median survival was 14.7 months in group 1 and 4 months in group 2. Cardiac failure was the most common cause of death, accounting for 30% of the fatalities. We also reclassified all cases by the method of Isobe and Osserman (105), which is based on clinical patterns: pattern I--principal involvement of tongue, heart, gastrointestinal tract, muscle, nerves, skin, and carpal ligaments; pattern II--principal involvement of liver, spleen, kidneys, and adrenals; and mixed pattern I and II. This analysis failed to reveal predictive value in the clinical pattern classification, and did not discern the survival differences between primary amyloidosis (group 1) and amyloidosis with myeloma (group 2). Consequently, for the present we prefer the classification used in this study.
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PMID:Amyloidosis: review of 236 cases. 115 71

The human T-lymphotropic virus type III/lymphadenopathy-associated virus (HTLV-III/LAV) requires reverse transcriptase for viral replication. We treated 12 patients who had acquired immunodeficiency syndrome and active HTLV-III/LAV viremia with suramin, a potent competitive inhibitor of reverse transcriptase, in six weekly induction doses of 1 g, followed by weekly maintenance doses of 500 mg. Three of eleven evaluable patients had complete inhibition of viral reverse transcriptase levels, lasting at least 18 weeks in each. Two additional patients had marked reduction in reverse transcriptase activity. Nadir serum suramin levels at the end of the induction phase correlated with the level of reverse transcriptase reduction. Toxicity included hepatic transaminase elevation, fever, malaise, rash, proteinuria, paresthesias, reversible neutropenia, and adrenal insufficiency. Objective clinical improvement was documented in 1 patient, but no patient had improvement in immune function and 7 patients had recurrent opportunistic infections. Although suramin may suppress HTLV-III/LAV viremia, its significant toxicity and lack of effect on immune variables indicate that alternative therapy will be required.
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PMID:Suramin antiviral therapy in the acquired immunodeficiency syndrome. Clinical, immunological, and virologic results. 242 53

Ten patients with severe Graves' ophthalmopathy, resistant to other therapeutic regimens were treated with cyclosporin A (CyA) over a period of 6 months. Clinically, 9 patients improved, 2 of them only after addition of corticosteroids. Intra-ocular tension on upward gaze decreased in all of these 9 patients (P less than 0.01). In 6 patients there was a significant decrease in eye muscle thickness under the treatment (P less than 0.05) as determined by computerized tomography. Side effects (e.g., paraesthesia, proteinuria) which were observed under higher doses of CyA, disappeared after lowering the dose. In only one out of 3 patients with hypertension an antihypertensive medication became necessary. CyA appears to be a valuable drug for treatment of severe Graves' ophthalmopathy when previous therapeutic regimens turned out to be unsuccessful.
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PMID:Treatment of severe Graves' ophthalmopathy with cyclosporin A. 391 14

A patient is described, admitted to the clinic on the occasion of proteinuria, edemas and arterial hypertension. The clinical and paraclinical data formed the picture of a renal involvement of mainly glomerular type with proteinuria to 5 gr%0, nonselective type, edemas, hypertension and data of chronic renal insufficiency I degree (serum creatinine to 3.8%, blood urea to 112 mg%). What impresses are the extrarenal manifestations as paresthesia of the lower limbs, with a sense of numbness to acute burning pain, a rich psychonervous symptomatics. The skin efflorescence, followed up and observed at the clinic of dermatology and the puncture biopsy material from the kidney revealed specific signs of Fabry syndrome.
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PMID:[Case of Fabry's disease]. 681 15

We prospectively determined the prevalence of morbidity from the various forms of diabetic neuropathy over one year in a population of 800 patients with diabetes mellitus (336 type 1, 464 type 2 DM). Symptoms documented were: pain/paraesthesia in the feet, loss of feeling and the restless legs syndrome. We also documented the prevalence of: neuropathic ulcers, amyotrophy, foot drop, and oculomotor palsy. Autonomic symptoms documented were: impotence, postural hypotension and diarrhoea. The only symptoms reported by 100 non-diabetic control subjects were: loss of feeling in 2% and restless legs syndrome in 7%. In the diabetics; pain/paraesthesia was present in 13%, feeling loss in 7% and neuropathic ulcers in 2%. The prevalence of Diabetic amyotrophy (proximal femoral neuropathy) was 0.8%, oculomotor palsy 0.1% and peroneal nerve palsy 0.1%. Erectile impotence was present in 20%, symptomatic postural hypotension in 1% and diabetic diarrhoea in 1%. Overall; 22.9% of the population was afflicted by one or more problems resulting from neuropathy. Neuropathy was associated with older age (p < 0.001), and serious retinopathy (p < 0.001) in both groups of diabetics and with duration of diabetes, proteinuria (p < 0.02), hypertension (p < 0.01) and ischaemic heart disease (p < 0.02) in type 1 diabetics.
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PMID:Prevalence and forms of neuropathic morbidity in 800 diabetics. 820 Jul 77

A 52-year-old man was admitted to our hospital in July 1995, because of intermittent claudication, paresthesia on foot and gross hematuria. Chest radiograph in 1988 revealed bilateral interstitial shadows and proteinuria had been pointed out since 1992. On admission, chest X-ray and computed tomography showed diffuse interstitial shadow, however it had not been changed for several years. Laboratory tests revealed elevated level of erythrocyte sedimentation rate, C-reactive protein, immunoglobulin, rheumatoid factor, IgG-rheumatoid factor, and immune complex. Serum MPO-ANCA were positive. Although serum creatinine level and renal function test were normal, renal biopsy demonstrated crescentic formation and necrotizing vasculitis. Immunofluorescence and electron microscopy demonstrated no remarkable deposit in glomerulus. A diagnosis of microscopic polyarteritis necrotizing and crescentic glomerulonephritis (NCGN) was made. Treatment was initiated with 30 mg of prednisolone, followed by marked improvement of intermittent claudication, and decreased titer of serum MPO-ANCA. Previous reports have demonstrated the association of MPO-ANCA with rapidly progressive NCGN, microscopic polyarteritis, and occasionally pulmonary hemorrhage recognized as pulmonary-renal syndrome. However, the present case suggests the possibility that another disease subset may also be associated with MPO-ANCA, which is characterized by interstitial pneumonitis and slowly progressive glomerulonephritis.
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PMID:[Case of MPO-ANCA positive interstitial pneumonitis and necrotizing, crescentic glomerulonephritis]. 912 27

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.
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PMID:[Fabry's disease--late diagnosis in men with chronic nephropathy and skin changes]. 1074 Apr 22

Amyloidosis is an uncommon plasma-cell dyscrasia with an incidence of eight patients per million per year. It is often difficult to recognize because of the myriad symptoms and vague nature of the clinical presentation. Symptoms include fatigue, dyspnea, edema, paresthesias, and weight loss. Clinical syndromes at presentation include nephrotic-range proteinuria with or without renal insufficiency, cardiomyopathy, hepatomegaly, symptomatic peripheral neuropathy, and autonomic failure. Recent advances have occurred in evaluation of patients by using the free light chain assay and new prognostic assessments with cardiac biomarkers. Newly developed therapeutic strategies, involving high-dose and intermediate-dose chemotherapy, have evolved in the last 3 years. This paper reviews a diagnostic pathway clinicians can use to diagnose the disorder, assess a patient's prognosis, and logically plan a therapeutic strategy.
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PMID:Amyloidosis. 1602 46

The authors present a patient with Fabry syndrome that remained undiagnosed for several years. Fabry syndrome is a genetic disease related to changes on the X chromosome. Its complex clinical presentation and diverse symptomatology is caused by deficient activity of lysosomal hydrolase alpha-galactosidase enzyme. Defect in the basic alpha-galactosidase molecule implies genetic change, which can be a predisposing factor for the development of atypical and typical forms of this genetic disease. In the presented case, clinical manifestation and hemizygous symptomatology were the evidence of metabolic and genetic irregularity, typical clinical presentation of Fabry disease. Many authors report generalized vasculopathy as a basic characteristic of Fabry disease and a causative factor of multiorgan changes. Some authors indicate that persons with diagnosed asymmetric hypertrophy of the left ventricle have decreased alpha-galactosidase. Cardiac complications, coronary disease, and acute myocardial ischemia are often present in cases of Fabry disease, frequently causing death in such patients. Characteristic central nervous system symptoms with skin-burning sensation and paresthesia were also present in our case. Cerebrovascular complications were caused by changes on small blood vessels. Clinical signs of renal failure were nonspecific, and the diagnosis was based on extrarenal symptoms. Initial renal manifestations were insignificant as asymptomatic proteinuria and microhematuria, due to which our patient was referred to further examination. The level of alpha-galactosidase was significantly decreased. The severity and progression of this disease depends on the level of alpha-galactosidase enzyme in serum and its catabolic effect. More recent studies have showed that deficient enzyme can be synthetic zed and, accordingly our patient has been successfully enrolled in the replacement therapy program.
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PMID:Fabry disease--a diagnostic and therapeutic problem. 1635 Aug 34

Amyloidosis is a rare plasma cell proliferative disorder. The annual incidence in Olmsted County, Minnesota, is 8 in 1,000,000 patients. This is a difficult disorder to diagnose, because the symptoms at presentation are vague and include dyspnea, paresthesias, edema, weight loss, and fatigue. The clinical syndromes at the time of presentation include nephrotic-range proteinuria with or without renal failure, cardiomyopathy, "atypical multiple myeloma," hepatomegaly, and autonomic or peripheral neuropathy. The serum immunoglobulin free light chain assay has been an important step forward in classifying systemic amyloidosis as an immunoglobulin light chain form and in monitoring therapy. Recently, the importance of serum cardiac biomarkers in assessing outcome has been recognized. New therapies developed over the past 5 years include high-dose chemotherapy with stem cell reconstitution, combinations of alkylating agents with dexamethasone, and, most recently, thalidomide.
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PMID:Amyloidosis: diagnosis and management. 1635 26


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