Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024141 (systemic lupus erythematosus)
 44,322 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neonatal lupus is a disease characterized by one or more of the following findings: congenital heart block, cardiomyopathy, cutaneous lupus lesions, hepatobiliary disease, and thrombocytopenia. Accumulating evidence indicates that the disease is probably caused by maternal autoantibodies, particularly autoantibodies of the Ro family. While often initially asymptomatic, mothers tend to develop symptoms of connective tissue disease. This review discusses the recent advances in the understanding of neonatal lupus, its clinical features, therapy, and pathogenesis.
 ...
PMID:Neonatal lupus: clinical features, therapy, and pathogenesis. 1156 70

The complete atrioventricular (AV) heart block is a rare complication in the course of systemic lupus erythematosus. We describe a case of a young woman with systemic lupus erythematosus and lupus cardiomyopathy who was admitted into our hospital with a syncopal attack showing on the electrocardiogram a paroxysmal complete AV heart block. The syncopal attack was resolved with a pacemaker implantation.
 ...
PMID:Complete atrioventricular block in a woman with systemic lupus erythematosus. 1191 17

The neonatal lupus syndromes, although quite rare, provide an excellent opportunity to examine disease from bench to bedside. During the past year numerous publications have reported basic and clinical research. Although anti-SSA/Ro-SSB/La antibodies are detected in more than 85% of mothers whose fetuses are identified with conduction abnormalities in a structurally normal heart, when clinicians applied this testing to their pregnant patients, the risk for a woman with the candidate antibodies to have a child with congenital heart block was at or below one in 50. Although the precise pathogenic mechanism of antibody-mediated injury remains unknown, it is clear that the antibodies alone are insufficient to cause disease, and fetal factors are likely contributory. In vivo and in vitro evidence supports a pathologic cascade involving apoptosis of cardiocytes, surface translocation of Ro and La antigens, binding of maternal autoantibodies, secretion of profibrosing factors from the scavenging macrophages, and transdifferentiation of cardiac fibroblasts to a myofibroblast scarring phenotype. Cross-reactivity of anti-52-kD SSA/Ro antibodies with a serotoninergic cardiac receptor, 5-hydroxytryptamine (HT)4, has been suggested but remains unconfirmed. The spectrum of cardiac abnormalities continues to grow, with varying degrees of block identified in utero and reports of late-onset cardiomyopathy (some of which display endocardial fibroelastosis). Moreover, there is now clear documentation that incomplete blocks (including those improving in utero with dexamethasone) can progress postnatally, despite the clearance of the maternal antibodies from the neonatal circulation. Better echocardiographic measurements that identify first-degree block in utero may be the optimal means of approaching pregnant women at risk. Prophylactic therapies, including treatment with intravenous immunoglobulin, await larger trials. Reassuringly, most children with neonatal lupus syndromes do not develop rheumatic diseases, although follow-up is limited to late adolescence. To further efforts both at the bench and bedside, national research registries established in the United States and Canada are critical.
 ...
PMID:Neonatal lupus syndromes. 1296 Apr 77

Clinically important myocarditis is an unusual feature in patients with systemic lupus erythematosus (SLE). We report three consecutive lupus patients over a 1 year period who developed severe left ventricular dysfunction in the absence of coronary artery disease or hypertensive cardiomyopathy. Two of them had clinical and biological flare of the disease whereas the lupus was quiescent in the latter. Two of them had positive IgG anticardiolipin antibodies. High dose steroids were given in two patients; one of them also required cyclophosphamide on account of diffuse proliferative glomerulonephritis. Left ventricular function improved quickly and markedly in these two patients; one of them had recurrence of severe myocarditis at intervals of 6 years and was each time responsive to steroids. Lupus cardiomyopathy, a rare event in the course of SLE, can be related to the disease even in the absence of coronary artery disease or hypertensive cardiomyopathy. It may be improved by steroids and immunosuppressive therapy. Literature concerning this cardiac manifestation in lupus is reviewed.
 ...
PMID:Specific cardiomyopathy in lupus patients: report of three cases. 1476 25

Neonatal lupus erythematosus is an uncommon disease associated with maternal autoantibodies to proteins of the Ro/La (SSA/SSB) family. The clinical findings most often reported are third-degree heart block and cutaneous lupus lesions, but a significant number of children have cardiomyopathy, hepatobiliary disease, or hematologic cytopenias. The consistent presence of maternal autoantibodies and the transient nature of the disease implicate maternal autoantibodies as the cause of the disease, and developing animal models support the concept that the autoantibodies are pathogenic. Only a minority of babies exposed to the autoantibodies develop disease, however, and mothers and their babies have different disease manifestations. Thus, additional factors are likely to be important in determining disease expression.
 ...
PMID:Neonatal lupus erythematosus: clinical findings and pathogenesis. 1487 Sep 86

Neonatal lupus is an uncommon autoimmune disease manifested primarily by cutaneous lupus lesions and/or congenital heart block. Maternal autoantibodies of the Ro/La family are present in virtually every case, although only approximately 1% of women who have these autoantibodies will have a baby with neonatal lupus. The cutaneous lesions of neonatal lupus may be present at birth, but more often develop within the first few weeks of life. Lesions are most common on the face and scalp, often in a distinctive periorbital distribution. Lesions tend to resolve in a few weeks or months without scarring. The most common cardiac manifestation of neonatal lupus is complete heart block. Heart block typically begins in utero during the second or third trimester. In some cases, heart block begins as first- or second-degree block and then progresses to third-degree block. Complete heart block, once established, appears to be irreversible. In some cases, cardiomyopathy occurs together with complete heart block. Most cases have been noted at birth, but delayed dilated cardiomyopathy has been reported. There have been a few cases of endocardial fibroelastosis occurring in the absence of congenital heart block. Hepatobiliary disease occurs in about 10% of cases. Three types of hepatobiliary disease have been observed: liver failure occurring at birth or in utero, transient conjugated hyperbilirubinemia occurring in infants, or transient transaminase elevations occurring in infants. Hematologic disease, consisting of thrombocytopenia, neutropenia, or anemia, occurs in about 10% of cases. It is common for children with neonatal lupus not to have the full expression of disease, but rather to have only one or two organ systems involved. The diagnosis rests largely on the finding of compatible clinical manifestations plus maternal autoantibodies to Ro and/or La, or, in a few cases, to U1 ribonuclear protein. Although the pathogenesis has not been conclusively established, accumulating evidence, including evidence from animal models, implicates autoantibodies in the pathogenesis of the disease. Therapeutic interventions include attempts at prevention, early intervention, and treatment of well established disease, mainly through the use of systemic corticosteroids. Optimal therapy has yet to be determined. The long-term prognosis for children who have had neonatal lupus is still under investigation, but some children who had neonatal lupus have developed other autoimmune diseases later in childhood. About half of the mothers are asymptomatic at the time of presentation of the child, but some of these women eventually develop symptoms of autoimmune disease.
 ...
PMID:Neonatal lupus: clinical features and management. 1503 48

The neonatal lupus syndromes (NLS), while quite rare, carry significant mortality and morbidity in cases of cardiac manifestations. Although anti-SSA/Ro-SSB/La antibodies are detected in > 85% of mothers whose fetuses are identified with congenital heart block (CHB) in a structurally normal heart, when clinicians applied this testing to their pregnant patients, the risk for a woman with the candidate antibodies to have a child with CHB was at or below 1 in 50. While the precise pathogenic mechanism of antibody-mediated injury remains unknown, it is clear that the antibodies alone are insufficient to cause disease and fetal factors are likely contributory. In vivo and in vitro evidence supports a pathologic cascade involving apoptosis of cardiocytes, surface translocation of Ro and La antigens, binding of maternal autoantibodies, secretion of profibrosing factors (e.g., TGFbeta) from the scavenging macrophages and modulation of cardiac fibroblasts to a myofibroflast scarring phenotype. The spectrum of cardiac abnormalities continues to expand, with varying degrees of block identified in utero and reports of late onset cardiomyopathy (some of which display endocardial fibroelastosis). Moreover, there is now clear documentation that incomplete blocks (including those improving in utero with dexamethasone) can progress postnatally, despite the clearance of the maternal antibodies from the neonatal circulation. Better echocardiographic measurements which identify first degree block in utero may be the optimal means of approaching pregnant women at risk. Prophylactic therapies, including treatment with intravenous immunoglobulin, await larger trials. In order to achieve advances at both the bench and bedside, national research registries established in the US and Canada are critical.
Lupus 2004
PMID:Neonatal lupus syndromes. 1548 9

The purpose of this prospective, pilot study was to determine whether differences in myocardial T2 relaxivity can be identified among active systemic lupus erythematosus (SLE) patients with clinically suspected SLE myocarditis, other active SLE patients, inactive SLE patients and age and gender matched controls. Eleven consecutive female patients (six with active SLE and five with inactive SLE), and five age, gender and race matched healthy controls underwent imaging with echocardiography and cardiac magnetic resonance imaging (MRI). Echocardiographic measurements included left ventricular end diastolic (LVEDV) and end systolic volumes (LVESV), and mass (LVM) (all indexed to body mass); ejection fraction and cardiac output. The cardiac MRI measurement was the T2 relaxation time (an index of soft tissue signal, with higher levels suggestive of increased tissue water content). Patients with active SLE had significantly higher LVEDV and LVM than inactive SLE patients and healthy controls, and significantly larger LVESV than healthy controls. Myocardial T2 relaxation times were significantly higher in patients with active SLE compared to those with inactive SLE and to healthy controls, and remained higher even after excluding the two active SLE patients who had clinical myocarditis. The four active SLE patients who underwent repeat cardiac imaging studies after clinical improvement showed normalization of these myocardial abnormalities. The conclusion was that active SLE patients demonstrate abnormalities in myocardial structure manifested by high myocardial T2 relaxation times that normalized after clinical improvement in disease activity. These findings suggest that T2 relaxation values are a sensitive indicator of myocardial disease in patients with SLE and that myocardial T2 relaxation abnormality frequently occur in patients with active SLE, even in the absence of myocardial involvement by clinical criteria.
Lupus 2005
PMID:Cardiac magnetic resonance imaging abnormalities in systemic lupus erythematosus: a preliminary report. 1575 18

A 61-year-old woman with a 30-year history of systemic lupus erythematosus treated with chloroquine sulfate presented with complete heart block, congestive heart failure, and findings of restrictive cardiomyopathy on echocardiogram. Thickening of mitral, aortic, and tricuspid valves along with mild to moderate valve regurgitation was also present. Magnetic resonance imaging showed increased gadolinium uptake in the interventricular septum and the left ventricular lateral wall. Endomyocardial biopsy specimen showed marked myocardial cytoplasmic vacuolation and extensive myelin figures. Seven months after discontinuation of chloroquine, she showed significant clinical improvement and reversal of cardiomyopathy on echocardiography. This is the first case report describing a cardiomyopathy with prolonged use of chloroquine involving the conduction system, cardiac valves, and the myocardium with reversal on discontinuation of the drug.
 ...
PMID:Chloroquine-induced cardiomyopathy-echocardiographic features. 1584 70

Neonatal lupus (NLE) is an autoimmune disease associated with maternal antibodies to Ro/La and characterized by cutaneous lesions, heart block, cardiomyopathy, hepatobiliary disease, and hematologic cytopenias. In most cases, only one organ is affected, although multiple organ involvement is not unusual. Since NLE is presumably caused by maternal autoantibodies, the disease process is transient. However, cardiac NLE, in particular, may be fatal or persistently disabling. Optimal therapy has not yet been determined. Mothers of babies with NLE are often initially asymptomatic, but eventually most develop symptoms of autoimmune disease, particularly diseases associated with anti-Ro/La autoantibodies, such as Sjogren's syndrome and systemic lupus erythematosus. Children who have had NLE are probably at increased risk for autoimmunity later in life, sometimes as early as pre-adolescence, but the magnitude of the risk for the children is not known. Only a small percentage of babies exposed to maternal autoantibodies to Ro and/or La develop NLE. The factors governing which babies develop disease and, if disease develops, which organs will be affected have yet to be fully elucidated. In this review the clinical features, diagnosis, therapy, and prognosis of NLE are discussed, and a summary of experimental data relating to pathogenesis is presented.
 ...
PMID:Transient autoimmunity related to maternal autoantibodies: neonatal lupus. 1589 13


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>