Metabolic disorder of ms

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  • Grade A recommendation (consistent high-quality evidence)
    Grade B recommendation (inconsistent or limited evidence)
    Grade C recommendation (lacking direct evidence)
  • Metabolic disorder of ms

    1. 1. Metabolic and regulatory disorders of musculoskeletal system อ.นพ.สุวิทยา เธียรประธาน สานักวิชาแพทยศาสตร์
    2. 2. Objective • Gout • Pseudogout • Muscular dystrophy
    3. 3. Gouty arthritis
    4. 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
    5. 5. Purine metabolism
    6. 6. Pathogenesis
    7. 7. Clinical manifestation 1. Asymptomatic hyperuricemia 2. Acute gouty arthritis 3. Intercritical gout 4. Chronic gout  tophi
    8. 8. Diagnosis • Gold standard : Joint fluid aspiration Polarizing Microscope • Lab : serum uric acid level, CBC, ESR, CRP
    9. 9. Radiographic study • Useful for chronic tophaceous gout • seagull wing sign
    10. 10. Differential diagnosis • Pseudogout (CPPD) • Septic arthritis
    11. 11. 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
    12. 12. 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
    13. 13. Antihyperuricemic therapies • Uricostatic drugs : Allopurinol*, Oxypurinol, Febuxostat • Uricolytic drugs : Uricase • Uricosuric drugs : Probenecid**, Benzbromarone, Sulfinpyrazole***, Losartan, Fenofibrate, Atorvastatin
    14. 14. Controversy • Asymptomatic hyperuricemia • Criteria for treatment : 1. At least two gout attacks/ year 2. Chronic tophi 3. Coexisting illnesses ex. Nephrolithiasis
    15. 15. 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
    16. 16. ACR recommendation 2012
    17. 17. Pseudogout
    18. 18. Definition • CPPD (Calcium Pyrophosphate Dihydrate) Crystal Deposition Disease • Acute form of disease
    19. 19. Common Clinical Presentations
    20. 20. 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
    21. 21. Natural history • Chronic case turn to Chondrocalcinosis
    22. 22. 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
    23. 23. Diagnosis • Same as Gout • Positive birefringent • Lab : CBC, ESR, CRP • X-ray for chronic case
    24. 24. Differential diagnosis • Gout • Septic arthritis • Other crystal arthropathy • Chronic case  Rheumatoid arthritis
    25. 25. Treatment
    26. 26. Muscular dystrophy
    27. 27. Introduction • Progressive muscle weakness • Genetic disease • Effect Dystrophin • Duchenne Muscular dystrophy : Most common • Becker Muscular dystrophy : Second most common
    28. 28. 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
    29. 29. 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
    30. 30. 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
    31. 31. 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**

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