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Rickets

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  • 1.  Clinical condition in which there is inadequate mineralisation of growing bone.  Primarily due to Vit D deficiecy or a disturbance in its metabolism.  Rickets – children  Osteomalacia bones of adults.
  • 2.  VIT.D DEFICIENCY  decrease absorption of ca. & p from  the gut  decrease ca. level in blood   increase PTH   mobilization of ca. & po4 from bones and  decrease tubular reabsorption of p in kidneys   normal serum ca. & low serum po4   decrease ca. available for bones   ca. & po4 will be far below 40   failure of calcification around the mature cart. cells and osteoblasts in the ostoeid tissue.
  • 3. Normal bone growth THERE ARE 4 ZONES : 1.ZONE OF RESTING CARTILAGE : 1 layer 2.ZONE OF PROLIFERATING CART. : 6 layers 3.zone OF PROVISSIONAL CALCIFICATION "epiphyseal line " : the cart. cells in this layer become mature, they containe alkaline phosphatase  release the phosphate in the matrix which already contains ca. & po4 in solution  increase production of ca. & po4  once the production exceeds 40  precipitation of ca.phosphate in the matrix around the cartilage cells  death of the cells. 4.ZONE OF BONE FORMATION : The layer of prov. calc. is invaded by capillaries and osteoblast which deposit a layer of organic bone matrix "osteoid tis.“  rapidly meniralized and the calcified cartilage ultimitly replaced by bone.
  • 4. PATHOLOGY 1. The mature cartilage cells will not die and the proliferating zone will be formed of many layers and invades the adjacent zone of of provis. calc.- irrIegularity of epiphseal line. 2. The prov. calc. zone and newly formed ost. tis. will fail to calcify or will calcified irregularly.  wide irregular frayed zone of non rigid tis. " RACHITIC METAPHSIS " is produced. 3. In the shaft the preformed bone is replaced by uncalcified ost.  soft rarified cortical bone  bone deformities & green stick fractures.
  • 5. CAUSES  Vitamin D deficiency  Lack of sunlight exposure  Dietry lack of meat & dairy products  Malsbsorption  Failure of 1,25 vit D synthesis  Chronic renal failure  Hyperphosphataemia & kidney damage  Vit D dependent rickets ( type 1) - AR  Inactivating mutation in 1,25,hydroxylase enzyme.
  • 6.  Vitamin D receptor defects  Vit D dependent rickets type2 (AR)  Mutation in vit D receptors  Defects in phosphate metabolism  Primary hypophosphataemic rickets(XLH)  renal phosphate wasting.  Fanconi syndromes  Proximal renal tubular acidosis.  Hypophosphatasia  Mutation of bone specific ALP
  • 7. NUTRITIONAL RICKETS  VIT D DEFICIENCY  3-18 MONTHS  LACK OF SUNLIGHT EXPOSURE & NO DIETARY SUPPLEMENTATION  PROLONGED BREAST FEEDING  CALCIUM DEFICIENT DIET  BOTH  VEGETARIANS WHO AVOID DAIRY PRODUCTS
  • 8. GASTROINTESTINAL RICKETS  ABSORPTION OF CALCIUM & VITAMIN D PREVENTED  GLUTEN SENSITIVE ENTEROPATHY  CROHNS DISEASE  ULCERATIVE COLITIS  SARCOIDOSIS  SHORTGUTSYNDROMES  LIVERDISEASE
  • 9. X LINKED HYPOPHOSPHATEMIA  MOST COMMON INHERITED ETIOLOGY  X LINKED DOMONANT DISORDER  DEFECT IN PHEX GENE(REGULATE TRANSPORT OF RENAL PHOSPHATES)  RENALPHOSPHATE WASTING HYPOPHOSPHATEMIA   RICKETS  SHORT STATURE  DENTAL ABSCESSES 
  • 10. McCUNE-ALBRIGHT SYNDROME  HYPOPHOSPHATEMIC RICKETS  CAFÉ AU LAIT SPOTS  PRECOCIOUS PUBERTY  FIBROUS DYSPLASIA OF MULTIPLE LONG BONES  CONSTITUTIONAL ACTIVATION OF C-AMP-PKA SIGNALING PATHWAY DUE TO GENETIC DEFECTS IN G SIGNALING PROTEINS
  • 11. 1 ALPHA HYDROXYLASE DEFICIENCY  VITAMIN D DEPENDENT RICKETS  <24WKS OF AGE  WEAKNESS  PNEMONIA  SEIZURES  BONEPAIN  BONE CHANGES OF RICKETS
  • 12. END ORGAN INSENSITIVITY  3 TO 30 FOLD HIGHER THAN NORMAL VALUE OF 1,25(OH)2VITD3  NEAR TOTAL LOSS OF HAIR FROM HEAD & BODY
  • 13. FANCONIS SYNDROME(RENAL TUBULAR ABNORMALITY)  FAILURE OF RENAL TUBULAR ABSORPTION OF MANY MOLECULES SMALLER THAN 50Da  KIDNEYS LOSE CALCIUM,PHOSPHATE,MAGNESIUM, BICARBONATE,SODIUM,POTASSIUM,GLUCOSE, URIC ACID AND SMALL AMINOACIDS  SHORT WITH RICKETS & DELAYED BONE AGE  HYPOPHOSPHATEMIA,METABOLIC ACIDOSIS,RENAL OSTEODYSTROPHY(DECREASED CALCIUM AND PHOSPHATE REABSORPTION)
  • 14. HYPOPHOSPHATASIA . ALP DEFICIENCY . 1 PER 1 LAKH POPULATION  AUTOSOMAL RECESSIVE CONDITION  MUTATION IN ALP GENE IN CHROMOSOME 1  ABNORMAL MINERALISATION OF BONE  PATHOLOGICAL FRACTURES  LOSS OF TEETH  FAILURE TO THRIVE,RAISED INTRACRANIAL PRESSURE & CRANIOSYNOSTOSIS
  • 15.  PERINATAL LETHAL FORM  CHILDHOOD FORM PRESENTS WITH RICKETS AT 2 OR 3 Yrs WITH REMISSION IN ADOLESCENCE  ADULT FORM-MILD OSTEOMALACIA WITH PATHOLOGICAL FRACTURES
  • 16. RENAL OSTEODYSTROPHY  BONY CHANGES ACCOMPANYING ESRD  RF HYPERPHOSPHATEMIA  HYPOCALCEMIA SECONDARY HYPERPARATHYROIDISM  SUBPERIOSTEAL EROSIONS & BROWN TUMORS  RICKETS  VARUS OR VALGUS DEFORMITY AT THE KNEE OR ANKLES
  • 17. CLINICAL FEATURES OF RICKETS  Delayed milestones  Irritable child  Lethargy & hypotonia  Stunted growth
  • 18. Rickets: signs  Skull  Craniotabes  Frontal and parietal bossing,  flat occiput  Anterior fontanelle is large with delay in closure.
  • 19.  Chest  Rosary  Harrison’s sulcus  Pigeon chest
  • 20.  Extremities:  Widening of wrist,  Bowing of legs,  Knock knee
  • 21.  Others: Scoliosis Kyphosis lordosis
  • 22.  “POT BELLY “ due to  hypotonia of abdominal muscles & intestine.  Downward displacement of the liver & spleen.
  • 23. Investigations X-RAYS The X-RAYS of the wrists is best for early diagnosis 1.The classic triad of rickets : Broadening Cupping (concave) Fraying ( irregular) 2.Increase distance between the distal ends of radius & ulna and the metacarpal bones .
  • 24. 3.Demeniralization of the shaft “ hypodensity” 4.Fractures & deformities may be present  LOOSER’S ZONE pseudo # occuring at the site of stress.
  • 25.  SUBPERIOSTEAL EROSIONS & BROWN TUMOR IN RENALOSTEODYSTROPHY  SUBPERIOSTEAL EROSIONS-LATERAL ASPECT OF DISTAL RADIUS & ULNA & MEDIAL ASPECT OF PROXIMAL TIBIA.
  • 26. Biochemical findings  NUTRITIONAL RICKETS  S . Ca - low / normal  S . Posphorus – low  S . ALP - High  PTH – Raised  25(OH)D - low
  • 27.  VDRR is suspected when rachitic patients fail to respond to Vit D & calcium. 1,25(OH)2D raised 3-30 FOLD
  • 28. Hypophosphataemic rickets high ALP, low phosphorus normal 25(OH)D & 1,25(OH)D
  • 29.  1 ALPHA HYDROXYLASE DEFICIENCY  LOW CALCIUM AND PHOSPHORUS  HIGH ALP & PTH  NORMAL 25-HYDROXY VITAMIN D3  MARKEDLY DECREASED LEVEL OF 1,25(OH)2VITD3
  • 30. Treatment of rickets NUTRITIONAL RICKETS  Adequate exposure to sunlight.  Supplementation of vit D in diet.  Therapeutic doses of vit D 200-600 units/day or  As single IM inj of 600000 IU induces rapid healing.  If line of healing ( sclerosis on the metaphyseal side of growth plate) is not seen after 3-4 weeks , same dose is repeated.
  • 31. GASTROINTESTINAL RICKETS  RECTIFY THE UNDERLYING GI PROBLEM
  • 32. HYPOPHOSPHATEMIC RICKETS phosphate supplements – 2-3 gm/day & active vit D metabolites .[1,25(OH)2D 0.25-1.5microgm daily]
  • 33. 1 ALPHA HYDROXYLASE DEFICIENCY  ORAL ADMINISTRATION OF ACTIVATED VITAMIN D3
  • 34. END ORGAN INSENSITIVITY  CANNOT BE COMPLETELY CURED  VERY HIGH DOSES OF VITAMIN D  IV HIGH DOSES OF CALCIUM FOLLOWED BY ORAL SUPPLEMENTATION
  • 35. FANCONI SYNDROME  SIMILAR TO X LINKED HYPOPHOSPHATEMIA- ORAL PHOSPHATE & VITAMIN D  ELECTROLYTE IMBALANCE SHOULD BE TREATED
  • 36. HYPOPHOSPHATASIA  NO SATISFACTORY MEDICAL TREATMENT  BONE MARROW TRANSPLANTATION
  • 37. RENAL OSTEODYSTROPHY  DIETARY PHOSPHATE RESTRICTION  PHOSPHATE BINDING AGENTS  CALCITRIOL  RENAL TRANSPLANTATION
  • 38. Orthopaedic treatment  Conservative – deformities correct spontaneously as rickets heals & with splinting.  Operative – after 6 months of medical treatment . Corrective osteotomies
  • 39. THANK YOU

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