2. INTRODUCTION
• Rickets is the most common metabolic disease of bones
in children of developing countries because of poverty,
malnutrition, illiteracy.
• Rickets is common in 6 months to 3 years of age k/a
infantile rickets
• It is rarely seen in first 6 months of age k/a fetal rickets-
achondroplasia
• Late rickets or RACHITIS TARDA is seen rarely in
adolescents in conditions of famine or vitamin resistance
3. DEFINITION:
A disease of infancy and childhood due to
disturbances in calcium and phosphate metabolism
which results in defective mineralization of growing
bones before fusion of epiphyses.
4. 1.Nutritional rickets
2.Vitamin D resistant rickets.
3.Vitamin D dependent type-I (inability to hydroxylate).
4.Vitamin D dependent type-II (receptor insensitivity).
5.Renal rickets
CLASSIFICATION:
5. ETIOLOGY:
1.Nutritional:
• Most common cause in developing countries
• Dietary deficiency of vitamin-D leads to decreased
absorption of calcium and phosphorus from the intestine.
6. 2. Malabsorption:
• Intestinal diseases like - steatorrhea, celiac disease,
sprue, common diarrhea
• Surgical conditions like - post gastrectomy ,small bowel
resection etc.
3.Lack of sunlight exposure
4.Hepato biliary conditions:(decreased 25-hydroxylation)
• Extrahepatic biliary atresia,Neonatal hepatitis, Cystic
fibrosis
• Drugs-Prolonged anticonvulsant therapy
7. 5.Renal causes :
a. Defective absorption of phosphates through renal
tubule
• Hypophosphataemic rickets (x-linked dominant)
• Fanconi syndrome
• Renal tubular acidosis
• Oncogenic rickets
b. Diminished intake or absorption of phosphates
8. Skeletal changes:
• The characteristic pathological changes in rickets arise
from the inability to calcify the intercellular matrix in the
deeper layers of the physis
• Epiphysis - wide and irregular
proliferative zone: are active but are piled up
irregularly
zone of calcification: poorly mineralized
• Metaphysis – The new trabeculae are thin and weak, and
with joint loading the juxta-epiphyseal metaphysis
becomes broad and cup- shaped.
9. Clinical features:
Early features are
• Muscular weakness, Lethargic, Malaise
irritability.
• Tetany, convulsions
• Repeated diarrhea
Head :
• Frontal and parietal bossing
• Flatenning of vertex and occiput causing
enlarged squared appearance - caput
quadratum
• Delayed closure of fontanelle
• Skull bones are thin and soft –
craniotabes
13. Deformities of extremities:
• Enlargement of wrists and
ankles, knees due to Growth
plate widening
• Valgus or varus deformities
• Anterior bowing of tibia and
femur
• Coxa Vara
14. Others:
• incomplete fractures
• growth restriction
• delayed dentition
• caries, enamel hypoplasia
• hypocalcemic symptoms like tetany, seizures, stridor
due to laryngospasm
15. Diagnosis:
1. History – dietary intake, sun exposure, maternal risk
factors, drug history , malabsorption ,renal diseases
2. Classical clinical signs and symptoms
3.Radiological changes - The earliest x-ray changes are
often observed in lower ends of the ulnar and radius
4. Laboratory tests
5.Bony biopsy , tetracycline labeling in vivo and the
calcium infusion test have been employed.
16. X-Ray:
Acute stage (early):
• Epiphysis: Cloudy area containing
> 1cm indistinct centre of
ossification.
• Metaphysis: splayed out
• Periosteum: thickened
• Fractures of long bones.
17. Second stage (established):
• Epiphysis: mottled, irregular,
ill-defined shadow
• Metaphysis: ragged, broader
than normal
• Periosteum: normal, if bowing
is present thickened on concave
side.
18. Third stage (stage of repair):
• Shadows become denser
• Dense line at end of metaphysis
due to deposition of calcium
• Epiphysis is more clearly outlined
yet mottled
• Marked different in size between
end of shaft and epiphysis.
20. Laboratory findings:
• Total calcium level is normal or low
• Serum phosphorus level is typically reduced
• Serum alkaline phosphatase is elevated
• Serum 25 hydroxy cholecaciferol level is decreased
• Urinary calcium levels are lowered
21. Management –
Treatment of rickets consists of
• Medical treatment
• Prevention of deformities
• Treatment of existing deformities
22. Medical treatment:
Prevention:
• Adequate sunlight exposure and consumption of milk
and cheese prevents development of rickets.
• Daily requirement of vitamin D is 10g (400I.U)..
23. Active Treatment:
• Oral or parenteral administration of Vitamin D is
preferred.
• In active, florid rickets, massive dose of 15,000g/
15 mg (600000 IU) vitamin-D intramuscularly as a
single dose every 2 wks( STOSS REGIMEN )
• once healing is started ,400 IU can be given daily
24. • In milder cases 50 to 150g (2000 to 6000 I.U) vitamin-D
daily for 4-6 wks ,in addition adequate intake of calcium
should be ensured by giving milk or oral calcium
gluconate or calcium lactate
• It takes 2-4weeks for X-ray evidence of healing to be
evident.
• A dense metaphyseal line of calcification can be
demonstrated on X-ray k/a - FRENKELS LINE
25. Prevention of deformity:
• As the bones are soft and can bend easily by pressure
or muscle strain, child’s movements should be
controlled, so that no weight or pressure is exerted
upon his limbs.
• Splints can be used to prevent deformity.
26. TREATMENT OF ESTABLISHED DEFORMITY:
Deformity can be corrected by splints or by osteotomy
Splinting:
• When deformity is slight and disease still active, in younger
children below age of 4 years splinting can be helpful
Correction by osteotomy:
• This method is used when the deformity is in the vicinity of
a joint.
• Osteotomies should not be carried out until the radiographs
indicate that at least third stage of rickets has been reached
• Osteotomies attempted before this period leads to nonunion.
27. Vitamin D dependent rickets
Rare causes of 1,25-(OH)2D failure are two heritable
(autosomal recessive) disorders.
Type I (pseudo vitamin D deficient rickets) :
• deficiency of 1α-hydroxylase
• children develop very severe rickets and secondary
hyperparathyroidism
• multiple fractures and generalized myopathy
• need life- long treatment with 1-(OH) D.
28. Type II :
• resistant to treatment with both vitamin D and
calcitriol (1,25-(OH)2D).
• Plasma 1,25-(OH)2D levels are elevated but vitamin
D receptors at the target organs (intestine and bone)
are defective
• Neither vitamin D nor any of its metabolites is
curative and patients may need long-term parenteral
calcium
29. Hypophosphataemic rickets
• Chronic hypophosphataemia occurs in a number of
disorders in which there is impaired renal tubular
reabsorption of phosphate.
• Calcium levels are normal and there are no signs of
hyperparathyroidism, but bone mineralization is
defective.
• Treatment:
1. phosphate (up to 3 g per day, to
replace that which is lost in the urine)
2. large doses of vitamin D (to prevent
secondary hyper- parathyroidism due to
phosphate administration)
30. RENAL RICKETS
• Renal insufficiency, either due to glomerular or tubular
disease, is associated with compensatory parathyroid
hyperplasia , leading to increased resorption of bone.
• Failure of absorption of calcium and vitamin D from intestine
does not occur, so that uncalcified osteoid tissue does not form
as extensively as it does in nutritional rickets.
Causes –
1. Congenital -congenital hydronephrosis , congenital cystic
disease.
2. Acquired - chronic glomerulonephritis, chronic interstitial
neprhitis and nephroses due to heavy metal poisoning
31. Treatment:
• The acidosis can be reversed by administration of
alkaline salts like sodium citrate, sodium lactate or
calcium gluconate.
• Administration of bicarbonate and oral phosphate
supplement, also helps to heal bone disease
32. FANCONI SYNDROME
In Fanconi syndrome, the renal tubules fail to absorb
phosphates, glucose and amino acids.
Treatment:
Rickets usually responds to large doses of vitamin-D the usual
starting dose is 5000 units/24hr which should be increased
gradually to a maximum of 2000 to 4000 units/kg/24hr. Most
patients require at least 25000 units/24hr to heal rickets
33. • It is the most common form of non-nutritional form
of rickets and is probably most frequent cause of
dwarfism.
• It fails to respond to usual doses of vitamin-D, but
response to massive doses of vitamin-D, the threshold
being very high.
• The mode of inheritance is x-linked dominant,
Autosomal recessive and sporadic forms
Vitamin-D resistant rickets:
34. Pathology may be:
• Defect in proximal tubular reabsorption of phosphate
• Defect in conversion of 25 (OH)D3 to 1,25(OH)1D3.
• This disorder is pure phosphate deficient rickets
35. Clinical features:
• Marked familial tendency is
observed.
• The patient is of short stature with
all the usual sings of florid rickets.
• Deformities are severe, especially in
lower extremities, where bow-legs,
knock knees
WINDSWEPT DEFORMITY
• combination of varus deformity of one
leg with valgus deformity of the other.
• marked ligamentous instability is typical.
36. Radiological findings:
Usual findings of rickets. However, the trabeculae are
coarser, broader, and more widely spread than usual
Laboratory findings:
• Low or normal serum calcium level
• low serum phosphate level
• elevated alkaline phosphatase
• Excessive phosphaturia despite hypophosphatemia,
37. Treatment -
1.Phosphate supplementation- Joulies Solution – 5ml-
4times a day(Dibasic sodium phosphate +Phosphate
acid)
2.Large doses of vitamin-D, 50,000 to 5,00,000 units daily.
Such larger doses are close to the toxic range and can
cause hypercalcemia and renal injury which may be
irreversible.
So it is necessary to perform serum calcium and urinary
calcium estimations frequently and to adjust the dosage
from time to time.
38. 3.Deformities should be corrected after closure of
diaphyses. Patients undergoing osteotomy should stop
taking vitamin-D preparations before surgery and should
not start them again until they are again ambulating to
avoid immobilization hypercalcemia
