Metabolic disorder of ms
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Metabolic disorder of ms
- 1. Metabolic and regulatory disorders of musculoskeletal system อ.นพ.สุวิทยา เธียรประธาน สานักวิชาแพทยศาสตร์
- 2. Objective • Gout • Pseudogout • Muscular dystrophy
- 4. Epidemiology • Primary gout = 1.7 : 100,000 / year • Age < 50 yr. M > F • Age > 50 yr. M < F • BMI, Diet, Alcohol, diuretic drug, Lead poisoning
- 7. Pathogenesis
- 8. Clinical manifestation 1. Asymptomatic hyperuricemia 2. Acute gouty arthritis 3. Intercritical gout 4. Chronic gout tophi
- 9. Diagnosis • Gold standard : Joint fluid aspiration Polarizing Microscope • Lab : serum uric acid level, CBC, ESR, CRP
- 10. Radiographic study • Useful for chronic tophaceous gout • seagull wing sign
- 11. Differential diagnosis • Pseudogout (CPPD) • Septic arthritis
- 13. Associated disease • Renal disease : Chronic urate nephropathy, Acute uric acid nephropathy, Uric acid nephrolithiasis • Metabolic syndrome : Hypertension, Obesity, Hyperlipidemia, Insulin resistance, Coronary heart disease, Stroke, peripheral artery disease, Congestive heart disease
- 14. Acute gouty arthritis Single joint Oligo-polyarticular joint Intra-articular steroid injection or NSAIDs or Colchicine Renal or hepatic disease Normal renal and liver function NSAIDs Colchicine 0.6 mg * 3 Prednisolone 30-60 mg/day then Taper off in 2 wks. Taking oral medications Unable Able Solumedrol IM, IV 100-150 mg/d * 1-2 days Or ACTH SC, IM, IV 25-40 IU q 12 hrs * 1-3 days High risk for cardiac or GI toxicity Low risk for cardiac or GI toxicity
- 15. Antihyperuricemic therapies • Uricostatic drugs : Allopurinol*, Oxypurinol, Febuxostat • Uricolytic drugs : Uricase • Uricosuric drugs : Probenecid**, Benzbromarone, Sulfinpyrazole***, Losartan, Fenofibrate, Atorvastatin
- 17. Controversy • Asymptomatic hyperuricemia • Criteria for treatment : 1. At least two gout attacks/ year 2. Chronic tophi 3. Coexisting illnesses ex. Nephrolithiasis
- 18. Chronic tophi treatment • **Do not excision** • Biopsy only to confirm diagnosis • Check urine uric acid level 24 hr : Urate overproduction Vs Urate underexcretion • Control serum uric acid level < 5 mg/dL
- 22. Pseudogout
- 23. Definition • CPPD (Calcium Pyrophosphate Dihydrate) Crystal Deposition Disease • Acute form of disease
- 26. Clinical setting • Elderly age over 55 years • Mimic to gout • large joint, most often the knee • less often the wrist or ankle • provoked by minor trauma or intercurrent medical or surgical conditions including pneumonia, myocardial infarction, cerebrovascular accident, and pregnancy. • Parenteral G-CSF, Bisphosphanate
- 27. Natural history • Chronic case turn to Chondrocalcinosis
- 28. Pathogenesis • The loose avascular connective tissue matrices of articular hyaline cartilage, fibrocartilaginous menisci, and of certain ligaments and tendons are particularly susceptible to pathologic calcification. • ANKH is clearly implicated in the pathogenesis of familial and idiopathic/sporadic chondrocalcinosis
- 29. Diagnosis • Same as Gout • Positive birefringent • Lab : CBC, ESR, CRP • X-ray for chronic case
- 30. Differential diagnosis • Gout • Septic arthritis • Other crystal arthropathy • Chronic case Rheumatoid arthritis
- 31. Treatment
- 34. Introduction • Progressive muscle weakness • Genetic disease • Effect Dystrophin • Duchenne Muscular dystrophy : Most common • Becker Muscular dystrophy : Second most common
- 40. Duchene muscular dystrophy • Most common • Male • 1:3500 live male birth • 1/3 new mutation • 65% family history • Onset : age 3-6 years • Pseudohypertrophy of calf muscles Meyeron sign
- 41. Diagnosis • Gait • Gower’s sign • Meyeron sign • Macroglossia • Myocardial deterioration • IQ ~ 80 • Increase CPK (200x) • Myopathic change in EMG Bx: muscle degeneration • Immunoblotting: Absence dystrophin • DNA mutation analysis
- 42. Natural history • Progress slowly and continuously • muscle weakness – lower --> upper extremities • unable to ambulate: 10 year (7-12) • death from pulmonary/ cardiac failure: 2-3rd decade
- 43. Treatment • Supportive treatment : Cardiology, Respiratory • Prednisolone 0.75 mg/Kg/day • Surgery required to stabilize skeletal structure : Scoliosis • Counseling family for another child • Specific treatment : PTC 124 *, PRO051**
Notes de l'éditeur
- Grade A recommendation (consistent high-quality evidence) Grade B recommendation (inconsistent or limited evidence) Grade C recommendation (lacking direct evidence)