医
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MPA is ANCA-associated small-vessel vasculitis; renal/pulmonary involvement; glucocorticoids/rituximab/cyclophosphamide.
风湿免疫科Takayasu disease is large-vessel granulomatous vasculitis; immunosuppression, revascularization for stenosis.
风湿免疫科Raynaud syndrome is episodic digital vasospasm (primary Raynaud disease vs secondary); keep warm, avoid triggers, CCB.
风湿免疫科Rheumatic arthritis is migratory polyarthritis of acute rheumatic fever: large joints, responds to aspirin; penicillin prophylaxis.
风湿免疫科Rheumatic fever is post-strep autoimmune inflammatory disease (ASO+): migratory polyarthritis/carditis/chorea/erythema marginatum/subcutaneous nodules; penicillin prophylaxis.
风湿免疫科Amyloid peripheral neuropathy is amyloid deposition in peripheral nerves: progressive distal sensory/motor/autonomic neuropathy; AL/ATTR types; treat underlying amyloid, liver transplant for hereditary ATTR.
风湿免疫科Familial Mediterranean fever (FMF) is MEFV mutation: recurrent self-limited fever, peritonitis/pleuritis/synovitis, erysipelas-like erythema; amyloidosis risk; treat by colchicine.
风湿免疫科Hyperuricemia is elevated serum uric acid (>420 umol/L men / >360 women); asymptomatic or causing gout/tophi/renal stones; treat by diet/allopurinol/febuxostat when symptomatic.
风湿免疫科Aspartylglucosaminuria is lysosomal aspartylglucosaminidase deficiency: progressive intellectual disability, coarse facies, recurrent infections; autosomal-recessive; supportive.
风湿免疫科Mucopolysaccharidoses are lysosomal enzyme defects causing glycosaminoglycan accumulation: coarse facies, skeletal dysplasia, organomegaly, neurodegeneration; enzyme-replacement/HSCT.
风湿免疫科Sarcoidosis is a multisystem noncaseating granulomatous disease of unknown cause, commonly affecting lungs/hilar nodes, skin, eyes; young/middle-aged; bilateral hilar lymphadenopathy, erythema nodosum; most self-limited.
风湿免疫科Hereditary angioedema (HAE) is autosomal-dominant C1-esterase-inhibitor deficiency causing episodic non-pruritic submucosal/subcutaneous edema (lips, limbs, GI tract, larynx); laryngeal edema is life-threatening.
风湿免疫科Combined immunodeficiency (CID) combines humoral and cellular immune defects; severe form = SCID. Etiologies: ADA deficiency, PNP deficiency, MHC defects, IL2RG gamma-chain defect, reticular dysgenesis. Presents in infancy with severe recurrent infection,
风湿免疫科Chronic granulomatous disease (CGD) is an X-linked or autosomal recessive phagocyte NADPH-oxidase deficiency causing recurrent severe bacterial/fungal infections and granuloma formation.
风湿免疫科Antiphospholipid syndrome (APS) is an autoimmune hypercoagulable state with antiphospholipid antibodies (lupus anticoagulant, anticardiolipin, anti-beta2-GPI) causing arterial/venous thrombosis and pregnancy morbidity.
风湿免疫科Diagnosis and treatment of autoimmune diseases including rheumatoid arthritis, gout, systemic lupus erythematosus and Sjögren's syndrome, with emphasis on immunomodulation and joint protection.
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