Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0409974 (lupus)
 22,386 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The studies of sera from two siblings with C1r deficiency are described. The brother (18 yr old) has shown clinical manifestations resembling lupus erythematosus for 5 yr, and the sister (24 yr old) has had arthralgia and recurrent episodes of rhinobronchitis since early childhood. Three siblings have died: one brother died at age 12 with symptoms similar to the disease of the male patient studied here, and two other siblings died in infancy, probably from infection. The low hemolytic C1 activity of the patients could be restored by the addition of purified C1r to their sera. Bactericidal activity and immune adherence were found to be impaired. When alternate pathways of the complement system were studied, both sera permitted activation of terminal components with endotoxin and cobra venom factor. These findings support the view that an alternate pathway for activation of the terminal portion of the complement cascade exists which does not utilize the conventional pathway operating through the usual early components.
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PMID:C1r deficiency: an inborn error associated with cutaneous and renal disease. 462 64

In 1980 more than 200,000 immunological tests were performed in the Section of Clinical Immunology, Department of Medicine, University Hospital, Zurich (Switzerland), a fact which raises the question whether the results warrant the effort involved. To answer this question of clinical relevance, 4 disease complexes have been investigated: lupus erythematodes, systemic affections dominated by arthralgia, hepatitis and thyroiditis. The analysis shows that no single factor but only an optimized set of tests is capable of distinguishing between related diseases. Follow-up studies are of prime importance because the sequence of antigen expression and antibody responses provides valuable additional information. Laboratory results can be evaluated only in conjunction with the clinical picture.
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PMID:[Relevant immunological profiles]. 612 29

A young woman had a history of subcutaneous nodules, migratory arthralgia, myalgia, and lymphadenopathy. Histopathologic characteristics of the nodular subcutaneous lesion showed a massive lobular panniculitis characteristic of lupus erythematosus (LE) panniculitis. The diagnosis of LE panniculitis was established by demonstration of a positive linear basement membrane zone stain of the involved skin by direct immunofluorescence microscopy. Initial serologic findings showed negative antinuclear antibody (ANA) and anti-DNA antibody test results and a negative LE cell preparation. Subsequently, a positive ANA test result developed. The test result for extractable nuclear antigen was strongly positive, although initial test results for antibodies to ribonucleoprotein and Sm antigens were negative.
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PMID:Lupus erythematosus panniculitis. 618 92

A middle-aged woman had five discrete episodes of herpes zoster. The first attack consisted of uncomplicated herpes zoster ophthalmicus. The subsequent four episodes involved thoracic, cervical, and finally sacral dermatomes and were complicated by myelitis or encephalomyelitis. During the most recent attack, while she was receiving corticosteroids, varicella-zoster virus was cultured from the CSF. In addition, the patient had strong evidence of systemic lupus erythematosus, with a history of Raynaud's phenomenon, migratory arthralgia, and unexplained anemia before the first attack of zoster with subsequent development of a positive lupus cell preparation and elevated antinuclear antibody levels.
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PMID:Recurrent herpes zoster encephalitis. A complication of systemic lupus erythematosus. 625 12

Three cases are presented, in two of which the CNS lesions revealed the presence of systemic lupus erythematosus (SLE). The diagnosis of SLE was certain according to the criteria of the ARA, and it was further confirmed by results of renal needle puncture biopsy. Case 1: A 16-year-old adolescent developed choreic movements followed, one month later, by psychotic symptoms suggesting a mixed hebephrenic-catatonic schizophrenic affection. Cutaneous lesions and signs of renal insufficiency 3 months later established that these disorders were related to SLE. A favourable outcome was observed rapidly for the systemic signs, recovery from neuropsychic symptoms being obtained after 3 months only but then in a few days. This course suggests the diagnosis of a "functional psychosis" of lupus origin. Case 2: A 24-year-old woman developed left hemiparesis followed by febrile coma. The slowly favourable course of the disease led to the appearance of a progressive dementia, with numerous epileptic seizures. Although tests for antinuclear antibodies were negative and the ESR was normal, several minor biological anomalies were suggestive of a systemic disease and the diagnosis of SLE was finally established. Corticotherapy produced only slight transient improvement. This progression towards dementia with progressive cerebral atrophy is most probably related to cerebral lupus lesions, the initial coma in the absence of any other apparent cause possibly being the first sign. Case 3: A 47-year-old woman developed simultaneously or separately episodes of arthralgia and uveitis of unknown origin over a 12-year period, and attacks of regressive multilocular neurological deficiency over a 15-year period.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Central nervous system involvement in systemic lupus erythematosus]. 671 10

The authors report the case of a 22-year-old Guatemalan in whom lupus was diagnosed 8 months after a second pregnancy. The diagnosis of lupus met the criteria of the ARA: Raynaud's syndrome, alopecia, arthralgia, thrombophlebitis, facial erythema, antinuclear factor at 1/100, Farr at 75 p. 100 and immunofluorescent demonstration of IgM binding in healthy skin. Two months after the beginning of the lupus, there was onset of insulin-resistant ketosic diabetes without overweight. The serum insulin was 1.140 mu U/ml. Acanthosis nigricans was noted and confirmed by a biopsy. Insulin-resistance can be attributed to anti-membrane receptor antibodies titrating at 1/200 (R. Khan). The short-term progress of the disease was favorable on corticosteroid treatment. Insulin could be stopped, but high insulin serum levels persisted. This case meets criteria for type B as defined by Flier, Khan and Roth, and is the first European case of lupus with a complete presentation. Short-term progress was favorable, and there is no evidence to affirm that there will be a tardive progression towards hypoglycemia which is, however, possible due to the persistence of elevated serum insulin levels.
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PMID:[Lupus, insulin-resistant diabetes and acanthosis nigricans (author's transl)]. 723 1

We observed two sisters with lupus-like syndrome with homozygous C3 deficiencies. A 19-year-old woman and her 15-year-old sister developed malar rash, arthralgia, and photosensitivity, but antinuclear antibodies and LE cell preparations were negative. The older sister experienced recurrent bronchitis in her childhood, but the younger sister had no recurrent infections. Serum C3 was not detected immunochemically in either sister, and total complement activity and C3 hemolytic activity were extremely low.
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PMID:Hereditary deficiency of the third component of complement in two sisters with systemic lupus erythematosus-like symptoms. 730 27

A study was done that involved 46 patients with high-titer serum antibody to ribonucleoprotein (RNP). Common cutaneous manifestations included swollen hands or sclerodactyly (50 percent), cutaneous lupus erythematosus (48 percent), periungual telangiectasia (46 percent), alopecia (46 percent), dyspigmentation (28 percent), photosensitivity (28 percent) and vasculitis (22 percent). Frequent systemic characteristics included Raynaud phenomenon (93 percent), arthritis or arthralgia (91 percent), adenopathy (43 percent), vascular headaches (35 percent), serositis (35 percent), hoarseness (28 percent), myositis (26 percent), sicca syndrome (24 percent), renal disease (17 percent) and central nervous system disease (9 percent). Associated laboratory findings included antinuclear antibodies (100 percent), epidermal nuclear lgG deposition (91 percent), hypergammaglobulinemia (78 percent), esophageal dysmotility (61 percent), abnormal pulmonary function (59 percent), rheumatoid factor (57 percent), lupus erythematosus cells (37 percent), positive lupus band test (34 percent), hypocomplementemia (28 percent) and elevated anti-nDNA (21 percent). It appears that patients with high-titer anti-RNP (without appreciable amounts of "anti-Sm") have a high prevalence of Raynaud phenomenon and a low prevalence of progressive renal insufficiency and severe central nervous system disease.
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PMID:Mixed connective tissue disease. 738 33

This case involves a 41-year-old woman with SLE. The patient began having symptoms of arthralgia in 1978 and developed fever, pleuritis and lupus psychosis in 1986. Laboratory exams showed positive antinuclear-antibody, LE-cell phenomenon, hypocomplementemia and lupus anticoagulant. Echo cardiography demonstrated mitral regurgitation and stenosis. She was treated with 50 mg of prednisolone and these manifestations subsided. In 1989, she developed dyspnea on exertion and echo cardiography revealed severe mitral stenosis. Pulmonary infarction was detected by MAA lung scintigraphy. At this time, she was diagnosed as SLE associated with antiphospholipid syndrome (APS). A mitral valvular replacement operation was performed in 1991. Pathological studies of mitral valve demonstrated Libman Sacks endocarditis. APS is known occasionally to complicate with left-sided valvular diseases, mitral stenosis is quite rare in both SLE and APS. This patient reveals a rare case of SLE associated with APS and mitral stenosis. It is suggested that this patient developed mitral stenosis with Libman Sacks endocarditis, associated with the presence of antibody against phospholipids.
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PMID:[A case of SLE associated with antiphospholipid syndrome and mitral stenosis]. 755 44

Drug-induced lupus is a syndrome resembling mild systemic lupus erythematosus which can complicate treatment with certain apparently unrelated therapies. The most common individual agents are procainamide and hydralazine. Drugs less frequently associated with the disease are chlorpromazine, isoniazid, methyldopa, penicillamine, quinidine and sulfasalazine. Whole drug groups have also been implicated, such as the anticonvulsants, beta-blockers, sulfonamides and some of the newer 'biological' agents. The syndrome is characterised by arthralgia, myalgia, pleurisy, rashes and fever in association with antinuclear antibodies in the serum. More serious features of idiopathic lupus such as nephritis and cerebral disease are rare in drug-induced disease. The pathogenesis is unknown but in some cases is thought to be due to interactions between the drug and DNA or histones, rendering them immunogenic. For the biological agents, including interferons and antibodies to tumour necrosis factor-alpha, it has been suggested that it is due to disruption of the cytokine network. Although extremely rare, recognition of drug-induced lupus is important because it reverts within a few weeks of stopping the drug. It is possible that understanding its pathogenesis may shed light on its more serious relative, systemic lupus erythematosus.
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PMID:Drug-induced lupus. 764 27


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