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Rheumatology in Pediatrics
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Juvenile Granulomatosis with Polyangiitis (Wegener's)
Symptoms: Nasal congestion, hemoptysis, renal impairment. Diagnosis: c-ANCA/PR3-ANCA positivity, tissue biopsy. Treatment: Corticosteroids and cyclophosphamide.
Juvenile Ankylosing Spondylitis
Symptoms: Back pain and stiffness; worse with rest, better with exercise. Diagnosis: Imaging (X-ray, MRI) and HLA-B27 positivity. Treatment: NSAIDs, TNF inhibitors, and physical therapy.
Pediatric Sjögren Syndrome
Symptoms: Dry eyes, dry mouth, and fatigue. Diagnosis: Autoantibodies (e.g., anti-Ro/SSA), Schirmer's test. Treatment: Symptomatic (e.g., artificial tears), immunosuppressants.
Kawasaki Disease
Symptoms: Fever, rash, and conjunctivitis. Diagnosis: Clinical criteria (fever plus at least four other principal symptoms). Treatment: IVIG and aspirin.
Familial Mediterranean Fever (FMF)
Symptoms: Recurrent fevers, serositis, synovitis. Diagnosis: Genetic testing for MEFV mutations. Treatment: Colchicine and supportive care.
Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA) Syndrome
Symptoms: Recurrent fevers, oral ulcers, sore throat, and cervical adenitis. Diagnosis: Clinical presentation and exclusion of other causes. Treatment: Tonsillectomy or corticosteroids during flares.
Henoch-Schönlein Purpura (HSP)
Symptoms: Purpuric rash, joint pain, and abdominal pain. Diagnosis: Clinical presentation and possibly kidney biopsy. Treatment: Supportive care, steroids for severe cases.
Juvenile Behçet's Disease
Symptoms: Recurrent oral and genital ulcers, uveitis. Diagnosis: Clinical criteria, pathergy test. Treatment: Immunosuppressants, colchicine, anti-TNF agents.
Juvenile Relapsing Polychondritis
Symptoms: Pain and swelling in multiple cartilaginous structures, auricular chondritis. Diagnosis: Clinical presentation, cartilage biopsy. Treatment: Corticosteroids, disease-modifying anti-rheumatic drugs.
Juvenile Gout
Symptoms: Sudden onset of joint pain, swelling, and redness, often in the big toe. Diagnosis: Serum uric acid levels, joint fluid analysis. Treatment: NSAIDs, colchicine, and allopurinol for chronic management.
Juvenile Psoriatic Arthritis
Symptoms: Asymmetric joint pain and swelling, psoriasis. Diagnosis: Clinical findings, imaging, exclusion of other diseases. Treatment: NSAIDs, DMARDs, and biologics.
Pediatric Antiphospholipid Syndrome
Symptoms: Blood clots, livedo reticularis, stroke. Diagnosis: Anticardiolipin antibodies, lupus anticoagulant, β2-glycoprotein I antibodies. Treatment: Anticoagulation, prevention of secondary complications.
Pediatric Rheumatic Fever
Symptoms: Migratory joint pain, carditis, and erythema marginatum. Diagnosis: Jones criteria and evidence of recent streptococcal infection. Treatment: Antibiotics and anti-inflammatory drugs.
Juvenile Idiopathic Arthritis
Symptoms: Joint swelling, pain, and stiffness. Diagnosis: Exclusion of other conditions, elevated inflammatory markers. Treatment: NSAIDs, DMARDs, and physical therapy.
Pediatric Lyme Arthritis
Symptoms: Joint swelling with pain, erythema migrans rash. Diagnosis: Serologic testing for Borrelia burgdorferi. Treatment: Antibiotics (e.g., doxycycline, amoxicillin).
Juvenile Autoinflammatory Diseases
Symptoms: Periodic fevers, serosal inflammation, rash. Diagnosis: Genetic testing, inflammatory markers. Treatment: IL-1 inhibitors, anti-TNF agents, and supportive care.
Juvenile Polymyositis
Symptoms: Progressive muscle weakness, difficulty in climbing stairs. Diagnosis: Elevated muscle enzymes, EMG, muscle biopsy. Treatment: Corticosteroids and immunosuppressive agents.
Juvenile Reflex Neurovascular Dystrophy (RND)
Symptoms: Pain out of proportion to physical findings, skin color and temperature changes. Diagnosis: Clinical signs, exclusion of other conditions. Treatment: Physical therapy, psychological support.
Juvenile Systemic Lupus Erythematosus
Symptoms: Fatigue, fever, rash, and joint pain. Diagnosis: ANA, anti-dsDNA, and complement levels. Treatment: Hydroxychloroquine, corticosteroids, and immunosuppressants.
Chronic Recurrent Multifocal Osteomyelitis (CRMO)
Symptoms: Bone pain, localized swelling, and warmth. Diagnosis: Imaging (X-ray, MRI), bone biopsy may be necessary. Treatment: NSAIDs, corticosteroids, and TNF inhibitors.
Juvenile Takayasu Arteritis
Symptoms: Weak or absent pulse in arms, hypertension, fatigue. Diagnosis: Angiography, CRP, and ESR elevation. Treatment: Corticosteroids, immunosuppressants, and vascular interventions.
Juvenile Dermatomyositis
Symptoms: Muscle weakness, rash on eyelids and knuckles. Diagnosis: Elevated muscle enzymes, MRI, and muscle biopsy. Treatment: Corticosteroids and immunosuppressants.
Juvenile Scleroderma
Symptoms: Skin thickening, Raynaud's phenomenon. Diagnosis: Autoantibodies (e.g., anti-Scl-70), skin biopsy. Treatment: Immunosuppressants and vasodilators.
Mixed Connective Tissue Disease (MCTD)
Symptoms: Features of lupus, scleroderma, and polymyositis. Diagnosis: High titers of anti-U1 RNP antibodies. Treatment: Depends on dominant symptoms, often immunosuppressive therapy.
Pediatric Fibromyalgia
Symptoms: Widespread musculoskeletal pain, fatigue, sleep disturbance. Diagnosis: Clinical criteria (e.g., tender points), exclusion of other conditions. Treatment: Physical therapy, pain management, cognitive behavioral therapy.
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