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Rickets & Osteomalacia.pptx
- 1. Rickets & Osteomalacia Dr.Vivek Jadawala PGY-3, Dept. of Orthopaedics JNMC, DMIHER
- 2. Definition • Bony manifestationof altered Vit. D, Calcium, and phosphorus metabolism • Rickets – child; • Osteomalacia – adult form • there is an inability to mineralize chondroid and osteoid • lack of available calcium or phosphorus (or both) for mineralization of newly formed osteoid • osseous changes in both adults and children
- 3. Rickets • a defectin mineralization of osteoid matrix caused by inadequate calcium and phosphate deposition prior to closure of physis. • Clinical features arise from un-mineralized matrix at the growth plate. • less mineralized bone per unit volume of bone • classic changes of rickets will typically occur in children younger than 6-7 years of age
- 5.
- 8. • Vitamin D=> increase the absorption of calcium from intestine • PTH => mobilizes calcium from bone and increases urinary excretion of phosphate • Calcitonin => inhibits bone resorption
- 9. CLINICAL FEATURES • Head: •Craniotabes — softening of cranial bones. also seen in osteogenesis imperfect, hydrocephalus and syphilis • Frontal bossing • Delayed dentition and tooth caries • Delayed closure of fontanel • Craniosynostosis.
- 10. CLINICAL FEATURES • Chest •Rachitic rosary — widening of osteochondral junction • Harrison’s groove — occurs due to pulling of softened ribs in inspiration by diaphragm. Softened ribs also predispose to atelectasis and pneumonia because of decreased air entry • Pectus carinatum (pigeon breast)
- 11. CLINICAL FEATURES • Spine •Scoliosis (uncommon) • Kyphosis (rachitic cat back) • Accentuation of lumbar lordosis
- 12. CLINICAL FEATURES • Limbsand Joints • Bone pain and tenderness • Coxa vara • Genu valgum or varum • Windswept deformity • Bowing of tibia, femur, radius and ulna • Widening of wrist, elbow, knee and ankle because of enlargement of ends of long bones • Rachitic saber shins • Sausage like enlargement of ends of phalanges and metacarpals, with regular constrictions corresponding of the joints string of pearls deformity • Double malleoli sign
- 13. CLINICAL FEATURES • General •Failure to thrive • Protuberant abdomen • Apathy, listlessness and irritability • Proximal muscle weakness • Ligament laxity • Symptoms of hypocalcemia—tetany, seizures and stridor due to laryngeal spasm • Bilateral lamellar cataract (Vitamin D deficiency in early infancy).
- 15. RADIOLOGICAL SIGNS • Generalizedosteopenia • Bowing deformities of the long bones, femur and tibia • Widening of the growth plate • Cupping or flaring of the metaphysis
- 16. Radiographic findings invitamin D resistant rickets • similar to those in infantile rickets • Bowing deformities and shortening of the long bones => more pronounced in early rickets • More common in distal ends of radius and ulna (more so in ulna) • Changes in the shaft appear a few weeks later than metaphysis. • The epiphysis is cloudy and indistinct and periosteum is thick. • The shaft shows diffuse rarefaction, thin cortices with coarse texture of spongiosa. • Umbau zones (Looser’s zones) => sharply defined radiolucent transverse zones
- 17. Findings of healingrickets: • Earliest finding => reappearance of the provisional zone of calcification, which gradually thickens into a transverse band • followed by recalcification of the spongiosa in the metaphysis • A dense line appears at the end of metaphysis • Epiphyseal shadow is clearly defined • The end of shaft and epiphysis become clearly differentiated • bone appears to be normal.
- 18. Vitamin D deficiencyRickets • Vitamin D deficiency remains the most common cause of rickets. • Infancy > Early childhood • combination of poor intake and inadequate cutaneous synthesis • Trans-placental transport of vitamin D => enough vitamin D for the first 2 month of life (unless maternal deficiency) • Breast milk – low Vit. D content • Hence, Infants rely on cutaneous synthesis or vitamin supplements
- 19. Vitamin D deficiencyRickets • Clinical Features: • increased risk of pneumonia • muscle weakness => delay in motor development • Other clinical manifestations = typical of rickets • Rarely patients => Symptoms of hypercalcemia and prolonged laryngospasm is life threatening
- 20. Vitamin D deficiencyRickets • Laboratory Findings: • Hypocalcemia – variable. S. Calcium levels – Kept normal by secondary hyperparathyroidism • Hypophosphatemia – due to PTH induced renal loss and decrease in intestinal absorption. • Serum Calcitriol levels – Low, Normal or High (due to upregulation of 1-alpha hydroxylase due to Hypophosphatemia and Hyperparathyroidism)
- 21. Vitamin D deficiencyRickets • Adequate intake of vitamin D, calcium and phosphorous • Stoss therapy: 300,000–600,000 IU of vitamin D is administered orally or intramuscularly as 2–4 doses over 1 day • Alternate therapy: High dose vitamin D, 2,000–5,000 IU/day over 4–6 weeks. • Either strategy should be followed by daily vitamin D intake of 400 IU/day, typically given as a multivitamin.
- 22. Vitamin D deficiencyRickets • For symptoms of Hypocalcemia => IV Calcium acutely, followed by oral calcium supplements (tapered over 4-6 weeks) • Transient use of IV or oral calcitriol is often helpful in reversing hypocalcemia in the acute phase by providing active vitamin D during the delay as supplemental vitamin D is converted to active vitamin D. • Calcitriol dose = 0.05 μg/kg/day • Intravenous calcium = 20 mg/kg of calcium chloride or 100 mg/kg of calcium gluconate
- 23. Prevention - VitaminD deficiency Rickets
- 25. SECONDARY VITAMIN DDEFICIENCY • deficiency of vitamin D occurring from causes apart from inadequate intake (nutritional deficiency) • Inadequate absorption • Decreased hydroxylation in the liver • Increased degradation
- 26. Treatment • high dosesof vitamin D • 25-D Vit D > Vitamin D3 • Dose of 25-D = 25–50 μg/day or 5–7 μg/kg/day • The dose is adjusted based on monitoring of serum levels of 25-D.
- 27. VITAMIN D-DEPENDENT RICKETS- TYPE 1 • pseudovitamin D deficiency • genetic disorder • autosomal recessive • Mutation in 1α-hydroxylase gene => reduction in the available enzyme for hydroxylation step => Prevents conversion of 25-D into calcitriol • Presents within first 2 years of life • Classical features of Rickets + symptomatic Hypocalcemia
- 28. VITAMIN D-DEPENDENT RICKETS- TYPE 1 • Typical laboratory findings – • elevated PTH levels • decreased serum calcium • low or undetectable serum calcitriol 1, 25-(OH)2 D • normal or increased Serum calcifediol (25OHD)
- 29. VITAMIN D-DEPENDENT RICKETS- TYPE 1 • Long-term treatment with calcitriol is the treatment for VDDR type I • Starting dose = 0.25–2 μg/day • Low dose initiated once clinical features of rickets heal with adequate calcium intake • The dose of calcitriol is adjusted to maintain • a low normal serum calcium level, • a normal serum phosphorus level and • a high normal serum PTH level • To prevent complications like hypercalciuria and nephrocalcinosis • Patient is monitored during the therapy with urinary calcium excretion, with a target of less than 4 mg/kg/day
- 30. VITAMIN D-DEPENDENT RICKETS- TYPE 2 • mutations in the gene encoding the Vit. D Receptors • autosomal recessive disorder • preventing a normal physiologic response to calcitriol because of end organ resistance • More severely affected patients present in infancy • Less severely affected patients may not be diagnosed until adulthood • associated with alopecia, Epidermal cysts • Levels of calcitriol are extremely elevated and serve to differentiate type II from type I VDDR
- 31. VITAMIN D-DEPENDENT RICKETS- TYPE 2 • Treatment: • For less severe cases => 3–6 month trial of high dose of – • Vit D2, 25-D or calcitriol and Oral calcium • The initial dose of calcitriol should be 2 μg/day • Oral calcium doses range from 1,000–3,000 mg/day. • Unresponsive patients => long-term IV calcium with possible transition to very high dose oral calcium supplements • Patient not responding to vitamin D are difficult to treat.
- 32. RICKETS IN CHRONICRENAL FAILURE • the activity of 1α-hydroxylase in the kidney is decreased => decreased production of calcitriol • Inadequate calcium absorption and secondary hyperparathyroidism, the rickets may be worsened by the metabolic acidosis of chronic renal failure • The patients also have hyperphosphatemia as a result of decreased renal excretion • Failure to thrive and growth retardation may be accentuated
- 33. RICKETS IN CHRONICRENAL FAILURE • Treatment: • Calcitriol is the treatment of choice • permits adequate absorption of calcium and directly suppresses the parathyroid gland • To regulate serum phosphate levels– • Sevelamer hydrochloride, phosphate binder used orally • Dietary restriction of phosphate
- 34. CALCIUM DEFICIENCY ANDRICKETS • Pathophysiology: • Poor weaning – common causes of calcium deficiency rickets • Calcium deficiency rickets may also develop in children who receive intravenous nutrition without adequate calcium • Malabsorption syndromes, like celiac disease, intestinal abetalipoproteinemia, and after small bowel resection predisposes to calcium malabsorption
- 35. CALCIUM DEFICIENCY ANDRICKETS • All classic signs and symptoms of rickets • Presentation may occur during infancy or early childhood • it tends to occur later than the nutritional vitamin D deficiency • Laboratory findings: • increased levels of PTH, calcitriol and ALP • Serum Calcium levels – Normal or Low • Urinary Calcium excretion – decreased • Serum phosphorus levels may be low due to renal wasting • Aminoaciduria
- 36. CALCIUM DEFICIENCY ANDRICKETS • Treatment: • dietary calcium deficiency respond dramatically to oral calcium supplementation • dietary supplement doses of 350–1,000 mg/day of elemental calcium • Vitamin D supplementation is necessary, if there is concurrent vitamin D deficiency • In Case of Malabsorption syndrome – • IV calcium supplementation • high dose oral calcium supplements
- 37. HYPOPHOSPHATEMIC RICKETS -Phosphorous Deficiency • Inadequate intake: very rare, except in prolonged starvation or severe anorexia • Malabsorption: decreased absorption of phosphates + other minerals • Isolated phosphorous malabsorption: Rare, seen with long-term ingestion of aluminum containing antacids • Chronic aluminum exposure results in hypophosphatemia with rickets in children and secondary osteomalacia in adults
- 38. X-linked Hypophosphatemic Rickets •Most common genetic disorder amongst genetic disorders causing rickets due to hypophosphatemia • Prevalance - 1/20,000 • X-linked dominant disorder • Female carriers are also affected • defective gene is called PHEX • Phosphate regulating gene with homology to endopeptidases on the X chromosome location Xp22.2-p22.1
- 39. X-linked Hypophosphatemic Rickets •PHEX gene => produces a protein that regulates another protein FGF- 23 => either a direct or an indirect role in inactivating a phosphatonin or phosphatonins • If PHEX gene is absent => degradation of the phosphatonin => increase in phosphate excretion and decreased production of calcitriol • In the absence of PHEX enzymatic activity, osteopontin accumulates => osteomalacia
- 40. X-linked Hypophosphatemic Rickets •Laboratory investigations in XLH: • high renal excretion of phosphate • Hypophosphatemia • low level of 1, 25-(OH)2 vitamin D3 • increased ALP • PTH and serum calcium levels are normal
- 41. X-linked Hypophosphatemic Rickets •combination of oral phosphorus and calcitriol • 1–3 g of elemental phosphorus in 4-5 divided doses • Calcitriol is = 30–70 ng/kg/day divided into two doses • Complications associated with treatment: • Excess phosphorus, by decreasing enteral calcium absorption, leads to secondary hyperparathyroidism => worsening of bone lesions • Excess calcitriol causes hypercalciuria and nephrocalcinosis • Hence, laboratory monitoring of treatment should include S. Ca., S. Phos, ALP, PTH, and urinary calcium
- 42. Autosomal Dominant HypophosphatemicRickets • much less common than XLH • gene encoding for FGF-23 is mutated • The mutated FGF-23 escapes degradation by the proteases • Increased FGF-23 • The actions of FGF-23, i.e. • decreased reabsorption of phosphates in the PCT and • inhibition of 1α-hydroxylase are overwhelmed, • thus leading to hypophosphatemia and decreased levels of calcitriol
- 43. Autosomal Dominant HypophosphatemicRickets • Laboratory findings: • Hypophosphatemia, • Elevated ALP level • Low or inappropriately normal calcitriol level • Molecular testing to confirm the diagnosis • Treatment – similar to XLH
- 47. Osteomalacia: Causes • Hyperthyroidinduced osteomalacia • Chronic use of anti-convulsants • Deficiency states – • Vitamin D deficiency • Malabsorption syndromes • Renal Osteodystrophy
- 48. Clinical Manifestations • easyfatigability, malaise, and bone pain • Pain - diffuse and poorly localized • Generalized tenderness over bone • In severe case => muscular weakness
- 49. Radiological changes • Looser'szones – pseudofractures • coarsened texture of the bones, "rugger-jersey" appearance of spine • Bowing of long bones in severe cases
- 50. Laboratory Findings: Osteomalacia •Hypocalcemia • Hypophosphatemia • Alkaline phosphatase – elevated
- 51. Treatment • Adequate exposureto UVB sunlight • Inj. Vitamin D 60 lac IU once a week for 6 to 8 weeks or • Oral Vitamin D3 60,000 IU every day for 10 to 14 days • Oral Calcium 1000 mg/day • Correction of other systemic abnormalities
- 53. References • Campbell's OperativeOrthopaedics Book, 13th Edition • Essential Orthopedics Principles & Practice by Manish Kumar Varshney, 3rd Edition • Physiopedia - https://www.physio-pedia.com/Osteomalacia
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