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(CASE REPORT)

ABBREVIATIONS
ACR : The American College of Rheumatology ALT : alanine aminotransferase ANA : antinuclear antibodies Anti ds-DNA: anti double stranded-deoxyribonucleic acid antibodies Anti-RNP : anti- ribonucleoprotein APA : anti-phospholipid antibodies AST : aspartate aminotransferase BW : body weight DLE : discoid lupus erythematosus GP : general practitioner HLA : human leukocyte antigen IU/L : international units per litre KCS : keratoconjunctivitis sicca LE : lupus erythematosus mEq : mili equivalent MSCT : multi slice computed tomogtraphy PUK : peripheral ulcerative keratitis SLE : systemic lupus erythematosus USG : ultrasonography
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INTRODUCTION
Lupus erythematosus is a basic term of diseases combined:
clinical manifestations characteristic pattern of polyclonal B cell autoimmunity

Systemic lupus erythematosus (SLE) is


LE form of the disease involving multiple organ systems
Lehman TJA, et al (2002); Blodi BA (2002); Klein-Gitelman, et al (2007); Sivaraj RR, at al (2007); Tutuncu ZN, et al (2007), Akib AA, et al (2010)

INTRODUCTION

The cause of SLE is still unknown,


interaction : genetic factors, acquired factors, and environmental factors immune dysregulation
autoreactive persistent immune B and T lymphocytes immune complexes tissue precipitation defective of clearance mechanism
Lehman TJA, et al (2002); Blodi BA (2002); Klein-Gitelman, et al (2007); Sivaraj RR, at al (2007); Tutuncu ZN, et al (2007), Akib AA, et al (2010) 4

INTRODUCTION

The incidence of lupus in children is not known


varies by location and ethnicity female predominance 4:1 to 8:1 onset before 8 y.o. unusual

Indonesia not available data


approx. 10.000 - 50.000 cases <1% under 15 y.o.
Klein-Gitelman, et al (2007); Rus V, et al (2007); Danchenko N, et al (2006); Komalig FM, et al (2008); Yayasan Lupus Indonesia (2011) 5

INTRODUCTION

The diagnosis of SLE


is based on clinical and laboratory criteria of ACR 4 out of 11 criteria are present diagnosis of SLE can be made

Organs often exposed


joints, skin, kidney, brain, liver, eye; basic lesions vasculitis
Hochberg MC (1997); Klein-Gitelman MS, et al (2007) 6

INTRODUCTION

Ocular manifestations in SLE


1/3 cases sometimes potentially sight threatening affect almost any part of the eye and visual pathway also caused by drugs used in the treatment 70% dryness

Sivaraj RR, at al (2007); Rosenbaum J, et al (2007); Fox R, et al (2002); Ushiyama O, et al (2000) 7

INTRODUCTION

Ocular manifestations in SLE


Retinal pathologies 10% cases, but rare in children Optic neuritis and optic atrophy is rare usually due to vasculitis of the vessels of optic disc

Sivaraj RR, at al (2007); Rosenbaum J, et al (2007); Fox R, et al (2002); Ushiyama O, et al (2000); Akib AA, et al (2010)

INTRODUCTION

The purpose of this paper present a rare case of lupus retinopathy in a child with SLE

CASE REPORT
A, female, 8 y.o, 19 kgs
came to Pediatric Outpatient Clinic on May 25th, 2011 chief complaint of fever referred by a GP in Tuban diagnosed as suspicious of SLE

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CASE REPORT

History:
fever 5 months before accompanied w/ non-productive cough, headache, fatigue, rashes on back & face, hospitalized w/ dx: typhoid fever, for 7 days discharged A few days later fever again + fatigue, malaise, anemic, loss of appetite, hair fall, & joints pain
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CASE REPORT

taken to several doctors, fever (+) until 1 mo


last GP checked ANA test (+) referred to Dr. Soetomo Hospital

rash on face since 7 months


disappeared in several days 2 months later erupt again + rash on her back more light red on sunray exposure

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CASE REPORT
blurred vision since 3 mo. ago
getting worse not accompanied with pain and trauma no ocular pain even with eye movement dryness and redness of the eye was not found.

headache (+), chest pain, abdominal pain, nausea and vomiting, cough, dispnea, edema, seizure, pareses, behavioral disturbance (-) defecation and urination: normal
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CASE REPORT

px was the only child of family mother diabetic (-), hypertension (-), nor taking any drugs and traditional herbs during pregnancy delivered spontaneously per vaginam, aterm, by midwife, BW 2500 g immunizations up to date. growth and development normal
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CASE REPORT

Physical examination
weak, alert girl BW: 19 kgs, BH: 119 cms BP: 100/60 mmHg, pulse: 126 tpm, RR: 20 tpm, tax : 38.1oC head & neck:
anemia (+), jaundice (-), cyanotic (-), dispnea (-), lymph node enlargement (-) malar rash (+), discoid rash (+), visual acuity
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CASE REPORT

Figure 1. The photographs of the patient show: (a) malar rash ;(b) oral ulcer; (c) and discoid rash
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CASE REPORT

Figure 2. Rashes on the patients upper and lower extremities and ears; discoid lesions on back
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CASE REPORT

chest: symmetric, retraction (-)


The heart sound normal, murmur (-) breath sound was normal

abdomen: distended (-), ascites (-)


liver palp. 2 x 2 x 4 cm, spleen was not palp bowel sound was normal, meteorism (-) discoid lesions (+) her back

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CASE REPORT

extremities: warm, red, and dry


maculopapular rashes (+) on upper &lower limb edema (-) external genital: normal

neurological exam: normal lab results (in Tuban)


Hb: 6 g/dL, ESR: 140-155 mm/hour, AST 103, ALT 97 IU/L, ANA weak positive, titre 1:32

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CASE REPORT

the patient was fulfilled 6 of 11 ACR criterions:


malar rash discoid rash photosensitivity oral ulcer hematologic disorder positive of ANA test

diagnosis of systemic lupus erythematosus (SLE) established


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CASE REPORT

For further investigation of SLE planning dx:


work-up for anemia work-up for hepatitis urinalysis feces analysis renal and liver function test C-reactive protein
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CASE REPORT

For further investigation of SLE planning dx:


electrocardiography chest roentgenogram abdominal ultrasono-graphy (USG) head CT-scan blood, urine, and fecal culture consult to Ophthalmology Department
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CASE REPORT

Initial therapy:
methylprednisolone pulse 500 mg in 100 mL i.v ampicillin-sulbactam 150 mg q.i.d. i.v azathioprine 30 mg b.i.d p.o acetaminophen as needed sun-block cream during the day, and hidrocortison 1% cream during bedtime diet of 1500 kcal/day
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CASE REPORT

On 2nd day of admission, Lab result:


Hb 6,5 g/dL SI 118 g/dL TIBC 263 g/dL SGOT 395 SGPT 182 IU/L BUN 10 mg/dL SC 0,5 mg/dL

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CASE REPORT On 2nd day of admission,


Examination of ophthalmology department : visual acuity were: 1/60 and 1/60 Fundus examination showed: fundus reflex (N) margins of both optic discs: clear pallor of both optic discs (+) retinal bleeding (-) exudates (+) macular reflexes atrophy and sheating of vascular (+)
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CASE REPORT

On 2nd day of admission, The temporary conclusion pale optic discs DD atrophic optic nerve Suggestion further examinations at ophthalmology outpatient clinic

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CASE REPORT

On 4th day of admission


methylprednisolone pulse stopped followed by prednisone tablets 3-3-2 (~2mg/kgBW/day) urine and fecal culture revealed no bacterial growth/sterile

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CASE REPORT

On 5th day of admission,


Echocardiography:
mild dilatation on left atrium and ventricle mild mitral regurgitation dilated cardiomyopathy suggestion of three next month evaluation.

The abdominal USG: non-specific hepatomegaly no specific treatment was given due to these results

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CASE REPORT

On 6th day of admission


Lab results:
Hb 8,6 g/dL LE-cell (-) anti ds-DNA (+): 147,1 units/mL C3 < 28 mg/dL

examination on Opthalmology Outpatient Clinic:


visual acuity: 1/60 and 1/60 ocular motility: (N); no pain

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CASE REPORT examination on Opthalmology Outpatient Clinic: Funduscopy :


fundus reflex (N) margins of both optic discs: clear pallor of both optic discs (+) retinal bleeding (-) soft exudates (+) cotton-wool spots macular reflexes atrophy and sheating of vascular (+)
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CASE REPORT

Conclusions: bilateral optic atrophy and bilateral retinal vasculitis due to systemic lupus erythematosus
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CASE REPORT

On 7th day of admission,


CXR: normal lungs and heart head MSCT-scan: normal lab:
SGOT 94 IU/L SGPT 85 IU/L Na: 136 mEq/L; K: 3,9 mEq/L; Cl: 100 mEq/L blood culture : sterile AB stopped
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CASE REPORT

On 7th day of admission,


CXR: normal lungs and heart; head MSCT-scan: normal lab:
SGOT 94 IU/L SGPT 85 IU/L HBsAg: (-) Na: 136 mEq/L; K: 3,9 mEq/L; Cl: 100 mEq/L blood culture : sterile AB stopped
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CASE REPORT

On 21st day of admission,


prednison was tapered-off to 2-2-2 tablets per day

On 27th day of admission,


Lab results:
Hb11,2 g/dL, L 5200/; Tr sufficient, Diff count 0/0/0/48/52/0; ESR 18 mm/hour Alb 3,8 mg/dL, BUN 8 mg/dL; SC 0,5 mg/dL Na 138 mEq/L; Ca 8,7 mg/dL; K 3,9 mEq/L; Cl 104 mEq/L; P 2,4 mg/dL
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CASE REPORT

On On 29th day of admission,


the patients condition was good, BP100/60 mmHg, pulse 92 tpm, RR 22 tpm, tax 36.8oC. patient was discharged with suggestions: prednisone 2-2-1 p.o. tapered 5mg (1 tablet)/week azathioprine 3x20mg should be continued attend to Pediatric Allergy-Immunology Outpatient Clinic on next two weeks
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DISCUSSION
SLE
interaction : genetic factors, acquired factors, and environmental factors

Blodi BA (2002); Klein-Gitelman, et al (2007); Tutuncu ZN, et al (2007), Akib AA, et al (2010) 36

DISCUSSION
some target organs musculoskeletal: arthritis skin: malar rash renal: glomerulonephritis cardiovascular: pericarditis neurologic: seizure pulmonary: pleuritic pain hematologic: anemia digestive system: oral ulcer, dysphagia, anorexia, ascites, perotinitis eye: keratitis, retinopathy, optic neuropathy
Klein-Gitelman, et al (2007); Tutuncu ZN, et al (2007); Fox R, et al (2002) 37

DISCUSSION The diagnosis of SLE is based on clinical and laboratory criterions proposed by the American College of Rheumatology (ACR). In our case, 7 of 11 creterions were fullfilled
the diagnose of systemic lupus erythematosus could be established

Klein-Gitelman, et al (2007); Rosenbaum J, et al (2007); Hochberg MC (1997) 38

DISCUSSION
Table 1. Our case compared with ACR criterions

Criterionn
1. Malar Rash
2. Discoid rash

Our case

Criterionn
7. Renal Disorder 8. Neurologic Disorder 9. Hematologic Disorder 10. Immunologic Disorder 11. Positive Antinuclear Antibody

Our case
-

+
+

3. Photosensitivity
4. Oral ulcers 5. Nonerosive Arthritis 6. Pleuritis or Pericarditis

+
+
-

+
+ +

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DISCUSSION Ocular manifestations: Anterior segments


Usually not sight threatening Symptoms: foreign body sensation, itching, photophobia, heaviness of the eyelids, redness

Posterior segments
Might be sight threatening

Rosenbaum J, et al (2007); Peponis V, et al (2006) 40

DISCUSSION
Table 2. Manifestations of SLE on anterior segments of eye (Peponis, 2006)

Anterior Segments
External ocular

Clinical manifestation
Keratoconjunctivitis sicca (KCS) Secondary Sjgrens syndrome

Adnexal involvement

Discoid lupus erythematosus (DLE) of the eyelids Periorbital edema, tenderness

Corneal involvement

Superficial punctate keratopathy Recurrent epithelial erosions Peripheral ulcerative keratitis (PUK) Interstitial stromal keratitis Corneal endothelitis (keratoendothelitis)

Conjunctival involvement

Chronic conjunctivitis Hypertrophic, papillomatous conjunctival lesions

Scleral involvement

Episcleritis Scleritis (anterior-posterior, diffuse-nodular, necrotizing)

Uveal involvement

Uveitis (anterior-posterior, granulomatous-nongranulomatous)

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DISCUSSION
Table 3. Manifestations of SLE on posterior segments of eye (Peponis, 2006)

Posterior Segments
Retinal involvement

Clinical manifestation
Cotton-wool spots Retinal edema, ischemia, hard exudates, hemorrhages Retinal vasculitis Central retinal artery occlusion, cilioretinal artery occlusion Retinal vein occlusion (central or branch) Proliferative retinopathy, retinal neovascularization Pseudoretinitis pigmentosa-like retinopathy

Choroidal involvement

Multifocal serous detachments of the retinal pigment epithelium (RPE) and neural retina Choroidal neovascularization Central serous chorioretinopathy (CSR) Ciliochoroidal effusions
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DISCUSSION
Table 3. Manifestations of SLE on anterior segments of eye (continued) Posterior Segments Clinical manifestation
Neuro-ophthalmological involvement Optic nerve involvement (papillitis, ischemic optic neuropathy, retrobulbar optic neuritis) Ocular motor nerve palsies Visual disturbances (amaurosis fugax, cortical blindness, visual field defects) Pupillary abnormalities (light-near dissociation, Horners syndrome) Gaze abnormalities (internuclear ophthalmoplegia, one-and-ahalf syndrome) Nystagmus, ocular flutter Pseudotumor cerebri MillerFisher syndrome

Other rare ophthalmic involvements

Orbital myositis Orbital pseudotumor Orbital apex syndrome


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DISCUSSION
In our case, blurred vision (+) ocular pain (-) red of eyes (-) dryness of eyes (-) visual acuity about 1/60 on both eyes fundus examination: bilateral pallor optic discs optic atrophy, soft exudates cotton-wool spots, decreasing macular reflexes, and sheathing on retinal vascular retinal & neuro-opht implication was the prominent manifestation in this case
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DISCUSSION Painless and gradually loss of vision on both eyes ischemic optic neuropathy
may due to occlusion of the small vessels of the optic nerves demyelination or axonal necrosis.

Sheathing on vessels may due to severe vasculitis


possibility of involvement of anti-phospholipid antibodies must be considered unfortunately immunologic examination for this antibody did not perform due to financial problem

Blodi BA, et al (2002); Rosenbaum J, et al (2007); Peponis V, et al (2006) 45

DISCUSSION Choroidopathies should be considered in this patient The best examination to identify is fluorescein fundus angiography (FFA). In our case, it was not performed
due to financial problem lack of experience to do this procedure on a child in Dr. Soetomo Hospital

Blodi BA, et al (2002); Rosenbaum J, et al (2007); Peponis V, et al (2006) 46

DISCUSSION The treatment regimen, depends on


the affected target organs disease severity

Sun exposure should be minimized and include use of a sunscreen Corticosteroids control symptoms and autoantibody production in lupus
started on 1-2 mg/kg/24hr of oral prednisone in divided daily doses severe patient methylprednisolone 25-30 mg/kg/24hr intravenously for three consecutive days followed by prednisone orally
Klein-Gitelman, et al (2007); Akib AA, et al (2010); Bartels CM, et al (2011) 47

DISCUSSION Azathioprine has been used as immunosuppressant and corticosteroid sparing agent Treatment of microangiopathic changes on retinopathy chosen in the context of the systemic disease.

Klein-Gitelman, et al (2007); Blodi BA, et al (2002); Rosenbaum J, et al (2007); Peponis V, et al (2006) 48

DISCUSSION Higher daily dosages of up to 2 mg/kg/day of oral prednisone have been used in patients with retinal vasculitis. In some cases, especially of asymmetrical ocular involvement, systemic corticosteroid may be supplemented with regional corticosteroid injection (triamcinolone acetonide, 40 mg/mL, in sub-Tenon or peribulbar injections)

Blodi BA, et al (2002); Rosenbaum J, et al (2007); Peponis V, et al (2006) 49

DISCUSSION In our case, the treatments includes:


methylprednisolone pulse 500 mg in 100 mL normal saline drip (~25mg/kg/24hr) i.v. 3 days, prednisone tablets 3-3-2 (or equal to 2mg/kgBW/day); ampicillin-sulbactam 150 mg q.i.d. intravenously; azathioprine 30 mg b.i.d p.o; acetaminophen 200 mg t.i.d p.o, as needed sun-block cream during the day, and hidrocortison 1% cream during bedtime

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DISCUSSION

In our case, after these treatments:


general condition getting better appetite became normal complaints of headache and joint pain malar rash was thinner laboratory indices improved (Hb , ESR ) unfortunately visual acuity was still 1/60 for both eyes

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DISCUSSION

Hallegua and Wallace (2002):


elevated liver enzymes are common on SLE, one fourth is accompanied with liver engorgement no specific treatment

DCruz, Khamashta, and Hughes (2002):


the most common cardiac manifestations in SLE is pericarditis myocardial involvement occurred about 2% to 10% of patients may improve with corticosteroid therapy
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DISCUSSION In our case, other manifestations of SLE in our case included:


Hepatic manifestations elevated of serum transaminases and enlarged liver. Cardiac disease dilated cardiomyopathy No specific treatment was given

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DISCUSSION SLE is characterized by remission and exacerbation (flare) Exacerbation is development of any new signs and/or symptom that is in necessary for change of the treatment, caused by: UV exposure, infection, some drugs such as: aromatic-forming antibiotics (penicillin, sulfa, tetracycline), salt of aurum, phenothiazine, and anticonvulsants, pregnancy
Akib aa, et al (2010); Mosca M, et al (2006) 54

DISCUSSION Measurement of the disease activity is based on scoring system many disease activity indices SLE Disease Activity Index (SLEDAI), and revised versions as SLEDAI-2K and Safety of Estrogen in Lupus Erythematosus National Assessment (SELENA)-SLEDAI the most common adapted indices in more countries, includes Indonesia
Akib aa, et al (2010); Mosca M, et al (2006); American College of Rheumatology (2011) 55

DISCUSSION Scoring must be done periodically


usually every 3 or 6 months change of disease activity presents.

Visual prognosis on ocular disease is depending on part or tissue involved.


Anterior segment disease usually not accompanied with loss of vision or blindness, posterior segment involvement frequently has poor visual outcome.

Blodi BA, et al (2002); Rosenbaum J, et al (2007); Peponis V, et al (2006) 56

DISCUSSION In our case,


the most involved organ is eyes posterior segment affected as retinopathy and optic atrophy the prognosis of her visual competence is not good visual rehabilitation should be prepared due to high possibilities of blindness. overall disease activity should be measured on periodic monitoring, although the prognosis is dubious ad malam
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SUMMARY
A rare case of lupus retinopathy and optic atrophy in a child with SLE has been presented. Chief complaints of fever, rash, and loss of vision. Based on the history, physical examination, laboratory data diagnosis of systemic lupus erythematosus was established.
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SUMMARY
By ophthalmologic examination the ocular seemed to be the most involved target organ on the patient The manifestations were retinal vasculitis and optic atrophy. The treatment of intravenous, followed by oral corticosteroid improved her general status and laboratory indices, but not for her sight or retinal impairment.
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SUMMARY
Activity of the disease or flare can be assessed by several scoring system. Visual prognosis is bad due to optic atrophy and severe retinal vasculitis, so need to be prepared for visual rehabilitation.

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THANK YOU

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Funduscopy on June 6th , 2011

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Funduscopy on October 5th 2011

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Chest X-ray

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Echocardiography

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Abdominal ultrasonography

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Thoracolumbal & knee joints x-ray

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Head MSCT

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Figure 1 Model of SLE-associated genetic variants in the immune response

Deng, Y. & Tsao, B. P. (2010) Genetic susceptibility to systemic lupus erythematosus in the genomic era Nat. Rev. Rheumatol. doi:10.1038/nrrheum.2010.176

SLEDAI

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SLEDAI

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SLEDAI

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Anatomy of the eye

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Anatomy of the eye

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Anatomy of the eye

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Polyclonal

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LE cell

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Complement system

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Normal fundus

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Nutritional status

BW: 19kgs; IBW: 20kgs; %IBW:95%


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