2.  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.

5.  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.

6. 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.

8. 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.

9. 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.

10.  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

11. 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

12. GASTROINTESTINAL RICKETS
 ABSORPTION OF CALCIUM & VITAMIN D
PREVENTED
 GLUTEN SENSITIVE ENTEROPATHY
 CROHNS DISEASE
 ULCERATIVE COLITIS
 SARCOIDOSIS
 SHORTGUTSYNDROMES
 LIVERDISEASE

13. 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


14. 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

15. 1 ALPHA HYDROXYLASE
DEFICIENCY
 VITAMIN D DEPENDENT RICKETS
 <24WKS OF AGE
 WEAKNESS
 PNEMONIA
 SEIZURES
 BONEPAIN
 BONE CHANGES OF RICKETS

16. END ORGAN INSENSITIVITY
 3 TO 30 FOLD HIGHER THAN NORMAL VALUE OF
1,25(OH)2VITD3
 NEAR TOTAL LOSS OF HAIR FROM HEAD & BODY

17. 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)

18. 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

19.  PERINATAL LETHAL FORM
 CHILDHOOD FORM PRESENTS WITH RICKETS AT
2 OR 3 Yrs WITH REMISSION IN ADOLESCENCE
 ADULT FORM-MILD OSTEOMALACIA WITH
PATHOLOGICAL FRACTURES

20. 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

21. CLINICAL FEATURES OF RICKETS
 Delayed milestones
 Irritable child
 Lethargy & hypotonia
 Stunted growth

22. Rickets: signs
 Skull
 Craniotabes
 Frontal and parietal bossing,
 flat occiput
 Anterior fontanelle is large with delay in closure.

23.  Chest
 Rosary
 Harrison’s sulcus
 Pigeon chest

24.  Extremities:
 Widening of wrist,
 Bowing of legs,
 Knock knee

26.  Others:
Scoliosis
Kyphosis
lordosis

27.  “POT BELLY “ due to
 hypotonia of abdominal muscles & intestine.
 Downward displacement of the liver & spleen.

28. 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 .

29. 3.Demeniralization of the shaft “ hypodensity”
4.Fractures & deformities may be present
 LOOSER’S ZONE pseudo # occuring at the
site of stress.

30.  SUBPERIOSTEAL EROSIONS & BROWN TUMOR IN
RENALOSTEODYSTROPHY
 SUBPERIOSTEAL EROSIONS-LATERAL ASPECT OF
DISTAL RADIUS & ULNA & MEDIAL ASPECT OF
PROXIMAL TIBIA.

31. Biochemical findings
 NUTRITIONAL RICKETS
 S . Ca - low / normal
 S . Posphorus – low
 S . ALP - High
 PTH – Raised
 25(OH)D - low

32.  VDRR is suspected when rachitic patients fail to
respond to Vit D & calcium.
1,25(OH)2D raised 3-30 FOLD

33. Hypophosphataemic rickets
high ALP, low phosphorus
normal 25(OH)D & 1,25(OH)D

34.  1 ALPHA HYDROXYLASE DEFICIENCY
 LOW CALCIUM AND PHOSPHORUS
 HIGH ALP & PTH
 NORMAL 25-HYDROXY VITAMIN D3
 MARKEDLY DECREASED LEVEL OF 1,25(OH)2VITD3

35. 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.

36. GASTROINTESTINAL RICKETS
 RECTIFY THE UNDERLYING GI PROBLEM

37. HYPOPHOSPHATEMIC RICKETS
phosphate supplements – 2-3 gm/day & active vit D
metabolites .[1,25(OH)2D 0.25-1.5microgm daily]

38. 1 ALPHA HYDROXYLASE
DEFICIENCY
 ORAL ADMINISTRATION OF ACTIVATED VITAMIN
D3

39. END ORGAN INSENSITIVITY
 CANNOT BE COMPLETELY CURED
 VERY HIGH DOSES OF VITAMIN D
 IV HIGH DOSES OF CALCIUM FOLLOWED BY
ORAL SUPPLEMENTATION

40. FANCONI SYNDROME
 SIMILAR TO X LINKED HYPOPHOSPHATEMIA-
ORAL PHOSPHATE & VITAMIN D
 ELECTROLYTE IMBALANCE SHOULD BE TREATED

41. HYPOPHOSPHATASIA
 NO SATISFACTORY MEDICAL TREATMENT
 BONE MARROW TRANSPLANTATION

42. RENAL OSTEODYSTROPHY
 DIETARY PHOSPHATE RESTRICTION
 PHOSPHATE BINDING AGENTS
 CALCITRIOL
 RENAL TRANSPLANTATION

43. Orthopaedic treatment
 Conservative – deformities correct spontaneously as
rickets heals & with splinting.
 Operative – after 6 months of medical treatment .
Corrective osteotomies

44. THANK YOU