Rickets

 lack of vitamin D, calcium, or

phosphate, which leads to

 softening and weakening of the bones.

 Defective mineralization of bone matrix –

excessive unmineralised osteoid
 Vitamin D helps the body properly control
calcium and phosphate levels in the body.
When the body is deficient in vitamin D, it is
unable to properly control calcium and
phosphate levels
 calcium and phosphorous are found in milk and
green vegetables.
 Defective Vitamin D metabolism –
 lowering of calcitriol -
 intestinal malabsorption of calcium -
 reduction of serum calcium –
 Parathyroid stimulation –
 normalised S.calcium at the expense of
reduced S.Phosphate
 Parathormone –

 Osteoblastic activity -

 ALP activity –

Defective Osteoid mineralization

 ultraviolet rays
 7-Dihydrocholesterol
Cholecalciferol (Vitamin D3)- in dermis

Vit D2 absorbed thru small intestine

Transport in serum- binds with X-globulin
25-Hydroxylation in Liver
1,25- Dihyroxylation in Kidney – active form
 Nutritional
 Absorptive
 Renal
 Others
 Decrease in effect & amount of Sunlight
 Bread/Chapathi rich in Phytate bind dietary
calcium – reduced absorption

 Infants who are exclusively breastfed may

develop vitamin D deficiency.
 Poor Dietary intake of Ca & Vit D
 Malabsorption disorders – Coeliac d/s, hepatic
osteodystrophy, lactose intolerance
Renal – Renal osteodystrophy, Nephrectomy,
renal failure, hypoparathyroidism,
X-linked hypophosphatemia/Vit D resistant
rickets
Vitamin dependant Type I (Inability to hydroxylate)
Vitamin dependant Type II (Receptor insensitivity)

 Anticonvulsant therapy( 25OH in liver)

 Failure of deposition of Ca along mature
cartilage cell columns
 Disorderly invasion of cartilage by blood
vessels
 Lack of reabsorption at the zone of
provisional calcification
 Increased thickness of epiphyseal plate
 Abundant osteoid with
 Defective mineralization
 No resorption of uncalcified osteoid by
osteoclasts
 Normal osteoblast – laid irregularly
 Abnormal arrangement of collagen bundles in
compact bone
 Long bones bent when child starts
crawling/walking



 Bone pain or tenderness
Arms Legs Spine Pelvis
 Skeletal deformities
o Bowlegs
o pigeon chest
o rachitic rosary
o Frontal bossing
o Spine deformities (spine curves
abnormally, including scoliosis or
kyphosis )
o Pelvic deformities
 Increased tendency toward bone
fractures
 Dental deformities
o Delayed formation of teeth
o Defects in the structure of teeth, holes in
the enamel
o Increased incidence of cavities in the
teeth ( dental caries )
o Decreased muscle tone (loss of muscle
strength)
 Muscle cramps
 Impaired growth
 Short stature
 Acute stage

 Normal epiphyseal appearance clouded

 Metaphyseal splaying
 Thickened periosteum
 Epiphysis Mottled & irregular
 Metaphysis ragged & broader
 Periosteal thickening disappears
 Dense shadow
 Dense line at the end of metaphysis-
deposition of Ca
 Stage of repair
 Increase in breadth of metaphysis
 Clearly defined bone
 Normal content of Ca salts
 Bone completely repaired
 Serum Ca low or normal.
o Tetany -prolonged muscle spasm.
o Chvostek's sign may be positive (a spasm of
facial muscles occurs when the facial nerve
is tapped)
 S.Phosphorus may be low.
 S.ALP may be high.
 ABG may reveal metabolic acidosis
 Urinary Ca may be low .
 24-hydroxylase assay – for vitamin D
dependency rickets

 Serum 25-OH vitamin levels

 A bone biopsy is rarely performed but will

confirm rickets.
 Congenital syphilis
 Infantile scurvy
 Goals - relieve symptoms and
correct the cause of the condition.

 Underlying cause must be treated to prevent

recurrence.
 Medical treatment

 Prevention of deformity

 Treatment of existing deformity

 Dietary sources of vitamin D include fish, liver,
milk and cheese.
 Exposure to moderate amounts of sunlight is
encouraged.
 Reduce cereal containing phytates
 Supplemention of Calcium and
Vitamin D – 3000 i.u./day
Before treatment and 2 years after treatment with calcium
 Control of movements – reduced pressure upon
limbs
 (soft bones easily bent by pressure / muscle
strain)

 Positioning or bracing with ‘rickets’ splints may be

used.
 Correction by splinting
 In young children below 4 yrs
 Useful in lower limbs
 Continuous supervision needed to prevent
sores
 Correction by osteotomy
 When deformity is near a joint
 At least stage 3 in radiograph
 Chronic skeletal pain
 Skeletal deformities
 Skeletal fractures, may occur without cause
 Rickets of prematurity
 Very premature infants at risk
 Risk factors- hepatobiliary d/s, TPN,
 Diuretic therapy, chest percussion therapy
 Pathologic # in NICU
 Readily heal with treatment
 Antiepileptic medications
 Induce microsomal P-450 enz
 Decreased Vit D
 Should be suspected in neurologic patients
having seizures
 Start having frequent #
 Familial hypophosphatemic rickets
 X-linked dominant (MC)- Mutn in PEX gene
 Aut dominant 12p13 – phosphatonins – fgf
23 – cause phosphaturia
 Aut recessive
 Renal tubule unable to retain PO4
 End organ insensitivity to vit D (AR)
 Kidney unable to perform 2nd hydroxylation
 Renal tubular acidosis (kidney excretes fixed
base and wastes bicarbonate)
 Ca ppt – renal calcinosis
 Older age
 Delayed walking, angular deformities
 Systemic manifestn – irritability and apathy
minimal
 Treatment – Oral Phosphorus , Vit D
 (Compl – nephrocalcinosis)
 Growth hormone – increased height,
increased PO4, reduced Nephrocalcinosis
 Surgery not efficacious – multilevel osteotomy
to correct mechanical axis
 Recurrent deformity common
 Surgery when - gait compromised/severe
pain
 Oncogenic hypophosphatemic
osteomalacia
 Asso with Neurofibromatosis, fibrous
dysplasia
 Osteoblastoma, hemangiopericytoma of
bone, skin tumors
 (disrupts renal tubular abs of po4)
 Secrete phosphatonins
 Resolve with excision of tumor
 C/C pyelonephritis
 Congenital Abnormalities
 Polycystic kidney d/s
 Secondary hyperparathyroidism
 Leads to actvn of osteoclast and resorption of
bone (high turn over d/s)
 Glomerulus unable to excrete Phosphorus
 Vit D prodn reduced
 Ca abs from S.Intestine reduced
 PTH triggered
 Increased S.Ca – bone demineralization
 Precipitate in cornea, skin, blood vessels
 C/F similar to Nutritional.
 Angular deformity, SCFE, AVN
 Radiography – cuppping of physis not
present
 Subperiosteal resorption in phalanges, MC
and ulna (feature of Hyperparathyroidism)
 Osteosclerosis of skull, rugger jersey spine
 Lytic areas in long bones (Brown tumors)
 Treat underlying d/s- Ca, Vit D, growth
hormone, osteotomy, Ilizarov
 Ca Normal or low in all

 Phosphate is reduced in all except Renal

Osteodystrophy
 ALP and PTH high in all

 25 OH Vit D N or high in all except

nutritional (decreased)
 1,25 (OH)2 N or low in all except Vit D
dependent typeII (receptor insensitivity)
 Maintain an adequate intake of calcium,
phosphorus, and vitamin D.

 This may require dietary supplements in

people who have gastrointestinal or other
disorders

 Renal causes of vitamin D should be treated

promptly.
 Levels of calcium and phosphorus should be
monitored regularly in people who have renal
disorders .

 Genetic counseling may help people with a family

history of inherited disorders that can cause
rickets.