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

We describe 11 cases of Systemic Lupus Erythematosus (SLE) with pediatric onset (10 females and 1 male). Mean age at onset was 10.9 years (range 3 to 16 years). Initial manifestations: cutaneous involvement in 7 cases, articular symptoms in 7 cases, renal involvement in 5 cases (proteinuria and/or microhematuria, or renal failure), pancytopenia in 3 cases. In 3 cases the onset of the disease was extremely sudden and severe: one patient had an intestinal infarct following mesenteric thrombosis associated with glomerulonephritis; another started with encephalopathy (deep coma, stage III); a third patient presented renal failure due to acute glomerulonephritis. At diagnosis all patients received systemic steroid therapy with the exception of one who had only a cutaneous involvement. The course of the disease is described. We underline that, in our series, it was rare for organs and systems, apart from the central nervous system, to be involved in exacerbations after initial onset of the disease. Six patients are presently asymptomatic or have only minor cutaneous and/or articular manifestations which are well controlled with low-dose cortisone therapy. Laboratory indices did not return to normal in any of the patients. In fact, in our series the disease doesn't appear to reach a complete remission, even many years after onset and no patient seems to be able to withdrawal the therapy at all. Our data confirm, according to other Authors, that the course of LES with paediatric onset is more severe than in adults.
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PMID:[Systemic lupus erythematosus: description of a pediatric series]. 868 1

The clinical picture of venous or arterial thrombosis in the presence of circulating antiphospholipid antibodies is referred to as the antiphospholipid syndrome. A 5-month-old baby girl who was quite healthy so far was referred to our clinic with irritability, vomiting, and abdominal distension for 30 hours. Surgical exploration exposed a gangrenous ileal segment about 15 cm long. The postoperative period was unremarkable. Investigation to identify the risk factors for mesenteric thrombosis found anticardiolipin antibodies (isotype Ig G) and decreased protein C level. Protein S and antithrombin III were within normal levels. Hb electrophoresis results showed no HbS, and neither Factor V Leiden nor prothrombin 20210 mutations were detected. Eight months postoperatively, anticardiolipin antibodies were found within normal levels. Lupus anticoagulant, ds DNA, and ss DNA were negative. Direct coombs test and protein C, C3, and C4 were also within normal levels. She had no thrombotic episode in the 24 months postoperatively, although no anticoagulant medication was administered. To the authors' knowledge this case is the first report of segmental intestinal infarction in transient antiphospholipid syndrome in the pediatric population.
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PMID:Transient antiphospholipid syndrome in an infant with segmental small bowel infarction. 1469 90

The objective of this study was to compare the clinical findings, laboratory data, functional outcome and chronic damage in male patients with primary antiphospholipid syndrome (PAPS) and systemic lupus erythematosus (SLE). We studied 29 male patients with PAPS and 44 with SLE. Clinical findings, laboratory data, lupus damage index (SLICC/ACR DI), and functional outcome in PAPS, were analysed in each group. The mean age at diagnosis was 29.8 +/- 10.4 years in patients with PAPS and 26 +/- 10.1 years in SLE patients. The duration of disease was 4.5 +/- 2.6 versus 5.2 +/- 3.8 years in patients with PAPS and SLE, respectively (P = NS). In patients with PAPS the most frequent clinical manifestations were venous thrombosis, thrombocytopenia, and pulmonary thromboembolism. Patients with SLE had joint, skin and renal involvement more frequently than those with PAPS (P = 0.0001). All PAPS patients had anticardiolipin antibodies (aCL), and 14 patients (48%) had lupus anticoagulant (LA). All SLE patients had antinuclear antibodies (ANAs). Anti-dsDNA antibodies were positive in 39% of SLE patients. Five patients died: one with 'catastrophic' APS and four with SLE. SLICC/ACR-DI score in SLE patients was 1.9 (SD = 1). In PAPS patients poor functional outcome was due to myocardial infarction, pulmonary thromboembolism, stroke and mesenteric thrombosis. Lupus nephritis was the principal organ damage in SLE. In conclusion, in male patients with PAPS and SLE, the clinical manifestations were significantly different. Arterial thrombosis was the major cause of functional impairment and permanent organ damage in PAPS. Renal involvement was the major cause of chronic damage in SLE.
Lupus 2004
PMID:Clinical spectrum of males with primary antiphospholipid syndrome and systemic lupus erythematosus: a comparative study of 73 patients. 1487 Sep 12