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Rickets and osteomalacia,ppt
- 1. RICKETS AND OSTEOMALACIA MODERATOR:DR. P. TAHBILDAR, PROF&HOD PRESENTER: DR. S.H.RANNA, PGT 20-04-2016
- 2. RICKETS AND OSTEOMALACIA •Inadequate bone mineralization. • Excessive unmineralized osteoid. • Osteomalacia adult version of rickets. • In rickets epiphyseal involvement. Different expression of same disease
- 4. Pathophysiology • Deficiency ofvit-D • Hypocalcemia • PTH secretion • Plasma Ca • Plasma P • Bone resorption • Bone formation for compensation, lack of Ca&P • Rickets/osteomalacia
- 5. Epiphyseal Plate Abnormalities •Resting & proliferative zone not affected. • zone of maturation: irregularly distributed cells. • hypertrophic cells are irregularly distributed and the intervening matrix bars cannot be identified.
- 6. Cont.. NORMAL RICKETS • honeycomb pattern vascular growth distorted. • Increase cartilage cells and unmineralized matrix increase length& width of bones. • Joint weight produce “cupping”
- 7.
- 8. Clinical feature ofRickets and Osteomalacia • Failure to thrive, listless, apathic, irritable, hypotonia, muscular weakness etc. • Delayed milestone. • Pallid or pasty skin. • Ligamentous laxity, loose joint structure. • Tetany, lareryngeal stridor, convulsion.
- 9. Cont.. • Craniotabes. • Frontalbossing. • irregular pits and grooves of teeth. • Ricketic rosary, Harrison’s sulcus, pigeon chest. • Rachitic pot belly abdomen, thoracic kyphosis (rachitic cat back).
- 10. Cont.. • Skeletal deformity: •Bow legs • Knock knee • Genu varum • Coxa vera • Thickening around wrist, ankle • Pathological #
- 12. X-rays: In rickets, •Delayed appearance of epiphyses. • Thickening & widening of growth plate. • Cupping and splaying of metaphysis. • Rarefaction & bowing of diaphysis. • Bone deformities – Genu varum, genu vulgum, coxavera.
- 13. X-rays: In osteomalacia, •Milkman's pseudo fracture(loosers zone). • Biconcave vertebrae (from disc pressure). • Lateral indentation of acetabular (trefoil pelvis or champagne glass pelvis). • Spontaneous fracture of ribs, pubic ramii, femoral neck etc. • Features of secondary hyperparathyroidism( subperiosteal resorption of bone, brown tumour)
- 15. Biochemistry • Decreased levelof serum calcium and phosphate. • Increased serum alkaline phosphatase. • Diminish urinary excretion of calcium. • Decreased serum level of 25-OH vitamin D (in vitamin D deficiency rickets). • The “calcium phosphate product” < 2.4
- 17. Bone biopsy: • Osteoidseams are wider and extensive. • Defective mineralization
- 18. Osteomalacia and osteoporosis osteomalaciaosteoporosis unwell well Generalized chronic ache Pain only after fracture Muscle weak Muscle normal Loosers zone No Loosers zone Alkaline phosphatase increased Normal Serum phosphorus decreased Normal Ca X P < 2.4mmol/l >2.4 mmol/l
- 19. Treatment • Vitamin –Ddeficiency rickets: • Correction of cause of vitamin D deficiency: adequate dietary supply, sun light exposer. • 15000μg or 600,000 IU Vit D3 orally or IM with calcium supplement. • If healing occurs continue with 400 IU-1000 IU of Vit D3/day however elderly people require 2000 IU/day vitamin D3. • In Intestinal malabsorption: 50,000-100,000 IU vit D3/day with calcium supplements.
- 20. Renal tubular rickets& osteomalacia • 3 pathophysiological mechanisms: 1. increase clearance of PO4 by the PCT (hypophosphatemic rickets). 2. A failure in the production of H⁺ and its substitution for fixed base in the DCT, (renal tubular acidosis). 3. A failure in the conversion of 25-hydroxy vitamin D to1, 25-dihydroxy vitamin D. 4. Combined lesion of both tubules which causes the Fanconi group of rickets and osteomalacia.
- 21. Proximal tubular ricketicand osteomalacic syndromes: 1.VDRR/hypophosphatemic rickets or phosphate diabetes. • +ve family history, X-linked dominant. • bony deformities present. • Markedly reduced PO4, normal serum calcium, No secondary hyperparathyroidism, No Myopathy. • Oral Neutral phosphate 1-4 gm/day • Calcitriol (1, 25-DHCC) 2- 5µgm/kg/day)
- 22. 2.VDRR with Glycosuria •less common than classic VDRR. • abnormal resorptive mechanism for both inorganic phosphate and glucose. • Serum phosphate less, glycosuria. • No evidence for genetic transmission. • Diabetes not necessary to present. • Vit-D= 0.5-1.5 mg/day(20,000-60,000 IU/day). • Ca = 1gm/day • Neutral Phosphates = 1.5 – 6 mg/day.
- 23. 3. Proximal FanconiSyndrome • defective reabsorption of phosphate, glucose, and many amino acids. • Autosomal recessive transmission. • more florid, severe rachitic lesions and pathological fractures. • Later develop ch. Liver disease. • Low serum po4, normal serum amino acid, aminoaciduria. • Vit-D=0.6 – 1mg/day(25,000-40,000 IU/day). • Ca = 1gm/day and neutral phosphate=1-3g/d.
- 24. 4.Late onset VDRR/Hypophosphatemia. •Normal in childhood, occurs early adulthood. • Rare but one cause of unexplained bone loss, joint pain in adults. • No genetic error found. • PTH responsible for phosphate leak rather than tubular defect. • Dramatic respond to vit-D(0.5-1.5 mg/day), Ca(1gm/day), neutral phosphate(1- 3mg/day).
- 25. Proximal and DistalRenal Tubular Rachitic and Osteomalacic Syndromes: • Defective reabsorption in both PCT & DCT. • impaired reabsorption of water, fixed base, protein, and bicarbonate. • Results in acidosis, dehydration, hyperproteinemia • Four syndromes have been identified in this group:
- 26. 1. proximal anddistal Fanconi syndrome (Debre De Toni Fanconi syndrome) • Autosomal recessive transmission. • Genetic swan neck deformity of renal tubule. • Very severe hypophosphatemic ricket. • Multiple # in few months of life. • serum Ca, P, Na&K, Alk. Phos. Academia. • Urine Pᴴ alkaline, glycosuria, amino aciduria. • Vit-D=0.6 – 1mg/day(25,000-40,000 IU/day). • Ca = 1gm/day and neutral phosphate=1-3g/d. • Alkalizing solution, k- supplement.
- 27. 2. Lignac-Fanconi syndrome •cystinosis, cystine storage disease. • Cystine deposited through out the soft tissue. • Autosomal recessive transmission. • serum Ca, P, Na&K, Alk. Phos. Academia. • Urine Pᴴ alkaline, glycosuria, amino aciduria. • Vit-D=0.6 – 1mg/day(25,000-40,000 IU/day). • Ca = 1gm/day and neutral phosphate=1-3g/d. • Alkalizing solution, k- supplement.
- 29. Renal Osteodystrophy: • includesrickets or Osteomalacia, osteitis fibrosa cystica, osteoporosis, osteosclerosis, and metastatic calcification. • Pathophysiology: 1. interferes with the conversion of 25-OH vitamin- D to 1 ,25-dihydroxy vitamin-D. 2. Increase PTH secretion. 3. Hypocalcemia, hypocalciuric, hyperphosphatemia. 4. Metastatic calcifications( arteries, cornea,).
- 30. Clinical features • Growthimpairment. • Classic sign of rickets present. • Ricketic rosary, Harrisons sulcus > Craniotabes, Frontal bossing. • Bowing and other deformity present. • Wrist, ankle enlargement present. • Epiphyseal separation. • Arterial ,corneal calcification.
- 31. X- RAYS: • Slippedcapital femoral& humeral epiphysis. • Metaphyseal fracture. • Cystic lesion in mandible. • Soft tissue calcification(vessels, tendon) • Subperiosteal erosion of bone (brown tumors) • Rugger- jercy spine.
- 33. Treatment • Low phosphatediet. • Vit-D =20,000-200000 IU/day. • Ca=1-3 gm/ day • Cinacalcet, a calcium mimetic drug. • Parathyroidectomy. • Dialysis. • Renal transplant.
- 34. Unusual Forms ofRickets and Osteomalacia: • Rickets and Osteomalacia Associated with Benign Bone and Soft Tissue Tumors: • hyposphatemic VDR Osteomalacia. • Hemangioma of bone, giant-cell tumor, reparative giant-cell granuloma, NOF, Cavernous Hemangioma of the thigh, and “ossifying mesenchymal tumor "of the larynx. • Tertiary hyperparathyroidism. • Ectopic vit-D antagonist secretion.
- 35. Rickets and OsteomalaciaAssociated with Anticonvulsant Therapy: • 15% epileptic patient with long term anti epileptic drugs( hydantoin, Phenobarbital). • stimulation of hepatic microsomal P-450 enzymatic activity. • An important syndrome to produce iatrogenic cycle. • usually responds well to vitamin D.
- 36. Vitamin-D dependent ricketsand osteomalacia Type-I(pseudo vit-D deficient) Type-2 vit-D dependent •Autosomal recessive •Deficiency of 1ᾳ hydroxylase. •Severe ricketic syndrome. •Secondary hyperparathyroidism. •Multiple #, Myopathy. •Life time treatment with 1-OH vit-D. •Autosomal recessive. •Defect in vit-D receptors in target cells. •Adults and children affected. •Not responds to vit-D. •Parenteral calcium is needed.
- 38. Orthopaedic Measures: • Neededin established long bone deformity. • Surgery should be done after correction of metabolic disorder. • Very early stage different braces are used accompanying systemic treatment. • Surgery for deformity correction, may need multiple surgery.
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- 42. Surgery for otherpathological fracture
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