RICKETS

[Link] IMAM QURESHI

 DEFINITION

“It is defined as failure of mineralization of growing bone

or osteoid tissue before epiphyseal closure (immature
bone).”
“Failure of mineralization or osteoid tissue after epiphyseal
closure (mature bone) is called as Osteomalacia”
• Rickets is a metabolic disturbance of bone growth and
results from dietary lack of vitamin D, lack of exposure to
sunlight and various other causes.
• Foods that contain vitamin D are butter, eggs, fish,
margarine.
• 30 mins / week of total body sun exposure or 2 hours /
week of head exposure is required to maintain normal
vitamin D levels.
• Rickets is a disease of growing bones hence it usually
occurs in first 2 years of life
• If it persists beyond 2 years of age, then consider vitamin
D resistant rickets.

• Deficiency more common in dark skinned children and in

breastfed babies because U/V rays do not cross the dark
skin where as there's less sunlight exposure in exclusively
breastfed babies.

• Diseases causing soft bones in infants like

hypophosphatasia or hypophosphatemia can also lead
to rickets.
METABOLISM
 FUNCTIONS

• Absorption of calcium and phosphorus from the intestine

• Mobilization of calcium from the bone
• Reabsorption of phosphorus from the kidneys
• Facilitates normal immune system function
• Regulates insulin level in the body
EFFECTS OF VITAMIN D DEFICIENCY

Vitamin D deficiency Hypocalcemia & Hypophosphatemia

PTH secretion Loss in urine

Bone resorption Decreased Po4

• Effects of vitamin D deficiency are most obvious on
skeleton.
• There is decrease in bone mineralization and sometime
complete cessation in growing bones.
• Cartilage does not die instead it undergoes proliferation
leading to enlargement of epiphysis leading to rickets.
 PATHOLOGY
• Due to rickets there is lack of normal growth of the
epiphyseal cartilage and its calcification due to
decreased Ca+ and po4.
• The epiphyseal plate near the diaphysis fails to complete
its normal cycle.
• Growth at the distal end of epiphyseal plate continues as
a result epiphyseal plate is enlarged due to osteoid
tissue.
• Wide , irregular, frayed end of the shaft of long bone is
produced.
• There's general decalcification of the skeleton , so
curvature and deformities readily develop.
 TYPES
• Vitamin D Deficient Rickets / Nutritional Rickets
• Vitamin D Dependent Rickets
• Vitamin D Resistant Rickets/ X Linked
Hypophosphatemia
• Rickets due to malabsorption
• Renal Rickets
• Hepatic Rickets
• RTA associated Rickets
• Rickets due Anticonvulsant Therapy
• Hypophosphatasia
 Vitamin D Deficient Rickets
• Most common form of growing bone disease.
• Main etiology is nutritional deficiency of vitamin D and
lack of exposure to sunlight, urbanization, winter season.
• Vitamin D deficiency causes hypocalcemina which in turn
causes bone resorption and decreases renal reabsorption
of the phosphorus.
In classical nutritional rickets :
• Low serum Ca+
• Normal serum Ca+ (due to PTH)
• Low phosphorus
• Increased AlkPo4 ( due to bone resorption)
 Vitamin D Dependent Rickets

• It is an inborn error of the vitamin D metabolism.

• Transmitted as autosomal recessive disorder.
• It is divided in to two types i.e type I and type II.
TYPE I
• Type I is secondary to the defect in renal 1 alpha
hydroxylase , which converts 25-hydroxyl vitamin D3 into
1,25-hydroxy vitamin D3.
• Symptoms appear within 1st year of life.
• There’s hypocalcemic tetany, convulsions, muscle
weakness and growth failure.
• H/O Adequate diet intake of vitamin D.
• Classic signs of rickets are present
• Trouseau and chovstek signs are +ve
• Hypocalcemia is cardinal
• Diagnostic feature is normal level of 25-hydroxy vitamin
D3 but low serum 1,25-hydroxyl vitamin D3 level.
• TYPE II
• It is due to end organ resistance to 1,25-hydroxyl vitamin
D3.
• Defect is in the binding of the metabolite.
• Clinical and radiological findings are same as type I.
• Alopecia due to dysfunction in 1,25-hydroxyl vitamin D3
target cells in hair follicles.
• Raised level of 1,25-hydroxy vitamin D3.
 Vitamin D Resistant Rickets

• More severe in males than in females.

• Most common non nutritional form of rickets.
• Vitamin D activation + tubular reabsorption of po4 are
impaired = Hypophosphatemia.
• X-linked dominant disorder hence some mothers have
features of the rickets i.e bowing of legs r short stature
and some mothers only have serum hypophosphatemia.
• There’s bowing of the legs at the age of walking due to
weight bearing.
• Rachitic rosary , Harrison sulcus and myopathy are not
present.
• Radiological signs and biochemical changes may be
observed in first few months of life.
• Dental carries due to abnormal tooth structure.
 Rickets Due To Malabsorption

• Celiac disease
• steatorrhea
• Cystic fibrosis
 Renal Rickets

• There is decreased activity 0f 1 alpha- hydroxylase in the

kidneys.
• As a result there’s Renal Osteodystrophy ( Osteopenia,
osteitis fibrosis and rickets).
 Hepatic Rickets

• It occurs due to chronic liver disease such as biliary

atresia and other cholestatic diseases.
• It occurs either due to decreased absorption of vitamin D
from the gut or due to decreased 25-hydroxylation in the
liver itself.
 Rickets Associated with RTA

PROXIMAL RTA: due to hypochloremic metabolic acidosis

and persistent alkaline urine there is interference in the
phosphate resorption leading to hypophosphatemia and
rickets.
DISTAL RTA: There is persistent metabolic acidosis due to
which there is bone dissolution because the calcium
carbonate of bone serves as buffer.
 Rickets due to chronic
anticonvulsant therapy

• Prolonged use of anticonvulsants (phenytoin and

phenobarbitone) causes increased metabolism of
calcidiol leading to rickets.
• Hepatic dysfunction in the conversion of vitamin D due
to anticonvulsant induced cytochrome p-450
hydroxylation enzymes.
 Hypophosphatasia

• Autosomal recessive disease

• Enzymatic defect in alkaline phosphatase activity
• Decreased serum alkaline phosphatase level
 CLINICAL FEATURES
• Peak incidence between 6 months to 2 years of age.
• Early manifestations include irritability , sweating ,
hypotonia, recurrent chest infections, iron deficiency
anemia.
• Following are the signs of rickets.
 HEAD

• Large head
• Frontal bossing
• Craniotabes
• Delayed closure of
fontanelles
• Caput quardatum
 TEETH

• delayed eruption of
teeth
• Defective enamel
• Dental carries
• Faulty calcification
 THORAX

• Rachitic rosary
• Harrison’s sulcus
• Pectus carinatum
 SPINE

• kyphosis
• Scoliosis
• Lordosis
 PELVIS

• Contracted pelvis
• Pelvic abnormalities
 BONES

• Bone tenderness
• Bone fractures
• Bowing legs
• Knock knees
• Double malleoli sign
• Widening of wrist
 OTHERS

• Hypotonia
• Rickety myopathy
• Potbelly
• Short stature
• Hypocalcemia
• Tetany
 DIAGNOSIS
• TYPICAL HISTORY: Inadequate intake or lack of
exposure to light.
• CLINICAL MENIFESTATIONS
• BIOCHEMIAL CHANGES:
Decreased Ca Decreased phosphorus
Raised ALKPO4 Serum vit D levels (<20ng/l)
• X-RAY CHANGES: Best site is X-ray wrist joint.

ACTIVE HEALING
• Cupping, fraying &
• Preparatory
flaring of long bones
calcification at the
• Decreased bone
distal end of the shaft.
density
• osteoid tissue
• More distance
calcification
between epiphysis &
diaphysis
 TREATMENT
• Oral vitamin D 2000-6000 IU/Day for 4 weeks.
Biochemical improvement in a few days but radiological
improvement in 2-3 weeks.

• I/M vitamin D 200,000IU as a single dose. If no healing

the repeat the dose. If healing then 400 IU of vitamin D
orally
• If there’s no improvement in 2 doses consider vitamin D
resistant rickets. Treat it with oral phosphate ( to replace
renal loses) along with vitamin D.

Advice serum Ca and urinary calcium every 15th day to

avoid vitamin D intoxication.
• In hepatic rickets there is vitamin D malabsorption so it is
treated with high doses of vitamin D.

4000-10000 IU of vit D2 or 0.2 micrograms/kg of vit D3

on daily basis along with oral Ca.
• Renal rickets is treated by treating the chronic renal
failure along with controlling hyperphosphatemia and
supplying Ca and Vitamin D.

• RTA is treated with regular alkali therapy but if proximal

RTA then oral phosphate and Vit D are added.
 COMPLICATIONS
• Respiratory Infections ( bronchitis &
bronchopneumonia).
• Pulmonary atelectasis due to chest deformity
• Anemia due to iron deficiency
• Failure to thrive
 PREVENTION

• Exposure to sunlight
• Oral vitamin D
• Vitamin D supplements should be given to pregnant and
lactating mothers.