Clinical presentations and molecular basis of complement C1r deficiency in a male African–American patient with systemic lupus erythematosus

Lupus ◽  
2011 ◽  
Vol 20 (11) ◽  
pp. 1126-1134 ◽  
Author(s):  
YL Wu ◽  
BP Brookshire ◽  
RR Verani ◽  
FC Arnett ◽  
CY Yu
Open Medicine ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. 562-564 ◽  
Author(s):  
Ruiqiang Wang ◽  
Bowen Zheng ◽  
Biyue Wang ◽  
Pupu Ma ◽  
Fengmei Chen ◽  
...  

AbstractChronic intestinal pseudo-obstruction (CIPO) is a functional gastrointestinal disorder with symptoms of ileus. CIPO can either be idiopathic or secondary to other diseases such as systemic lupus erythematosus (SLE). SLE is involved in many parts of the gastrointestinal system with variable clinical presentations. Reports about reduplicated CIPO as a complication of SLE is infrequent. A 49-year-old female suffering from clinical symptoms of ileus has been hospitalized 3 times over 1 year. Her examination results showed no observation of mechanical obstruction. In August 2017, she came to the nephrology department due to edema in both lower limbs along with symptoms of ileus. After thorough examination, she was diagnosed with secondary CIPO related to SLE. Results of renal biopsy confirmed to be lupus nephritis (Class III-(A) + V). The symptoms of ileus are gradually improved after treatment of full-dose intravenous corticosteroid for 5 days.


2016 ◽  
Vol 10 (1) ◽  
pp. 122-128 ◽  
Author(s):  
Emily C. Milam ◽  
Jacobo Futran ◽  
Andrew G. Franks Jr.

Background: Dermatomyositis (DM) is an autoimmune connective tissue disease that primarily targets the muscle, skin, and lungs. Many patients have autoantibodies that correspond to distinct clinical phenotypes. Melanoma differentiation-associated gene 5 (anti-MDA5) antibody, a specific antibody that targets the melanoma differentiation-associated gene 5 (MDA5), has been reported in DM cases and is significant for a distinct cutaneous presentation and rapidly progressive interstitial lung disease. Objective: Herein, we describe a patient with DM with a positive anti-MDA5 antibody and characteristic clinical phenotype, who subsequently developed coexisting systemic lupus erythematosus (SLE). A diagnosis of SLE was supported by his clinical phenotype, positive serologies, hypocomplementemia, and progression to glomerulonephritis and lupus cerebritis, features of which fulfilled the American College of Rheumatology criteria for SLE. Conclusion: DM is known to overlap with other autoimmune diseases, including SLE, and coexistence can lead to a wide variety of clinical presentations. SLE overlapping with anti-MDA5 positive DM may present with distinct clinical features.


Lupus ◽  
2018 ◽  
Vol 27 (13) ◽  
pp. 2129-2134 ◽  
Author(s):  
J N Williams ◽  
S-C Chang ◽  
C Sinnette ◽  
S Malspeis ◽  
C G Parks ◽  
...  

Objective: Past studies have reported associations between pesticide exposure and the risk of systemic lupus erythematosus (SLE). Residential pesticide exposure has been less well studied than agricultural exposure. The purpose of this study was to assess SLE risk associated with residential pesticide exposure in an urban population of predominantly African-American women. Methods: Adult women with SLE were identified from six hospital databases and community screening in three neighborhoods in Boston, Massachusetts, USA. Controls were adult women volunteers from the same neighborhoods who were screened for the absence of connective tissue disease and anti-nuclear antibodies. Subjects were considered exposed to pesticides if they had ever had an exterminator for an ant, cockroach, or termite problem prior to SLE diagnosis or corresponding reference age in controls. Risks associated with pesticide exposure were analyzed using multivariable logistic regression models, adjusted for sociodemographic factors. Results: We identified 93 SLE subjects and 170 controls with similar baseline characteristics. Eighty-three per cent were African-American. Pesticide exposure was associated with SLE, after controlling for potential confounders (odds ratio 2.24, 95% confidence interval 1.28–3.93). Conclusion: Residential exposure to pesticides in an urban population of predominantly African-American women was associated with increased SLE risk. Additional studies are needed to corroborate these findings.


Author(s):  
Stephen Oppenheimer ◽  
B.I. Hoffbrand

ABSTRACT:The optic neuritis of systemic lupus erythematosus (S.L.E.) more frequently results in the persistence of a central scotoma or complete blindness after a single attack than demyelinating optic neuritis, although the initial clinical presentations may be identical. A significant number of patients, however, recover normal vision. Optic neuritis may be the presenting symptom of S.L.E. and as myelopathy may also occur in the course of the disease, confusion with multiple sclerosis may result, especially if there are no arthritic, cutaneous nor visceral manifestations. We report a case of lupus optic neuritis associated with anticardiolipin antibodies and a circulating lupus anticoagulant and suggest these may be a marker for vasculitic optic neuritis and play a role in its aetiology.


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