Vitamin D deficiency and
infantile rickets
Definition:
Metabolic disorder
Caused by vitamin D deficiency
Defective minerlization Rickety myopathy
(hypotonia)
Vitamin D metabolism
Vitamin D metabolism
Causes of infantile rickets:
I. Defective supply and
synthesis
II. Defective vit. D
absorption:
III. Defective
activation of vit. D to
calcitrol
IV. End-organ
resistance to
calcitriol in bones
I. Defective supply and synthesis or increased demand for
vitamin D:
a. Dietary deficiency of vitamin D:
•Lack of adequate intake of vitamin D by
lactating mothers.
•Feeding the infant on unmodified cow’s
milk or on milk formula unfortified with
vit. D.
b. Lack of exposure to sun rays.
c. Rapidly growing infants:.
Premature, twins and infants
recovering from malnutrition
II. Defective vit. D absorption
•Malabsorption syndromes, chronic disease, chronic
diarrhea.
•Rachitogenic diets like cereals.
III. Defective activation of vit. D to calcitrol:
•Liver diseases → defective 25-hydroxylation of vit. D.
•Chronic renal disease (renal osteodystrophy) → defective 1,25
hydroxylation of vit. D.
•Deficiency of 1 hydroxylase enzyme → inadequate renal
production of1,25 hydroxy vit. D
( vit. D dependent rickets type I)
•Anticonvulsant therapy: Phenyton and phenobarbital.
IV. End-organ resistance to calcitriol in bones
Vit. D dependent rickets type II rare
Pathology: Vitamin D deficiency
Dec, Intestinal absorption of Ca and P
Dec, Ca level in blood and ECF
Stimulation of Parathyroid gland → inc PTH
BONES: inc mobilization of Ca KIDNEYS: dec reabsorption of P
Normal serum Ca level (9mg/dl) Dec serum P level Phosphaturia
(<3mg/dl)
Failure of calcification of osteoid tissue
Clinical picture
Early manifestation (3rd- 6th month
[Link] sweating while asleep.
2. Irritability.
3. Failure to sleep.
4. Craniotabes.
Later manifestations:
Symptoms
•Delayed sitting, standing, walking ( due to
hypotonia)
•Delayed teeth eruption.
Clinical features of rickets:
General
Failure to thrive
Fracture
Protruding abdomen
Muscle weakness
Head
[Link]
2. Delayed fontanelle closure
3. Frontal bossing
4. Caput quadratum ”square skull”
5. Delayed dentition → caries
Chest
[Link] rosary
2. Harrison groove
[Link] infections and
atelectasis
Clinical features of rickets:
Back
Scoliosis
Kyphosis
Lordosis
Extremities
Enlargement of wrists and ankles
Anterior bowing of the tibia and
femur
Leg pain
Biochemical findings
Nermin Mohamed Sayed Abd El_Gaid Saleh
1237
Biochemical findings
Calcium:
Early decreased
however it is often normal at the time of diagnosis
as PTH levels increase.
PTH:
Elevated as a compensatory mechanism for low Ca
level.
Phosphorus:
low due to secondary hyperparathyroidism leads to
increase phosphorus renal execration.
Alkaline phosphatase: elevated.
Radiological findings
Best view:
an anterior view of the knee that reveals the metaphyseal end
and epiphysis of the femur and tibia.
1- Earliest sign: widening
and cupping of epiphyseal
plates
2- Later on: decrease in cupping
the density of the bone
along the metaphyseal side
of the growth plate
Decrease density
3- Fraying : irregularity in the
metaphyseal end of long bone
due to disorganization of
spongy bone.
4- Along the shaft, the uncalcified
osteoid causes the periosteum to
appear separated from the
diaphysis. Fraying
5- Bow legs 6- knock knee
Complications
1- Hypocalcemic tetany (neurological):
Precipitated by any febrile illness ( infection) Failure of
parathyroid
Manifest tetany (7mg\dl) compensatory
• carpo-pedal spasm. mechanism
• laryngeal spasm.
• Generalized convulsion. Ionized Ca
Latent tetany (7-9mg\dl) Tetany
•Chvostek’s sign.
• Trousseau’s sign.
• Erb’s sign.
2-Respiratory: chest deformities may produce atelectasis and
expose rachitic children to recurrent chest infection like
bronchitis and bronchopneumonia.
3-Skeletal: fracture and sever bony deformities
Diagnosis
1- History .
2- Clinical picture.
3- Chemical and
radiological
findings.
Differential Diagnosis
1. Rare metabolic bone diseasesi ncluding hypophosphatasia.
2. Jansen syndrome.
3. Severe calcium deficiency.
4. In premature infants, severe phosphorus deficiency that occurs when
human milk is used without mineral fortification presents with
rickets.
5. Hypophosphatemic vitamin D–resistant rickets.
6. physiological bow legs chondrodysplasia, osteogenesis imperfect.
7. Hypotonia and delayed motor development.
Prevention
1- Exposure to sunlight :
• Full-body exposure during summer.
• For 10 to 15 minutes in an adult with
light pigmentation will generate between
10 000 and 20 000 IU of vit.D.
• In Individuals with darker pigmentation
require 5 to 10 times more exposure to
generate similar amounts of vit.D.
• Exposure should be to direct sunlight ,
• clear sky.
• Timing : around the noon.
2. Vit.D Supplementation:
• Daily requirement of vitamin D: least
400 IU/day.
• To meet this intake requirement, the
American academy of Pediatrics
Committee on Nutrition makes the
following suggestions:
1. Breastfed and partially breastfed
infants :
• should be supplemented with 400
IU/day of vit.D beginning in the first
few days of life.
• Supplementation should be continued
unless the infant is weaned.
2. All non-breastfed infants, as well as older children who
are ingesting less than 1000 ml/day of vitamin D
fortified formula or milk:
• should receive a vitamin D supplement of 400 IU/day.
Other dietary sources of vitamin D, such as fortified
foods, may be included in the daily intake of each child.
3. Adolescents who do not obtain 400 IU of vitamin D per
day through vitamin D fortified milk and vitamin D
fortified foods (such as fortified cereals and eggs yolks)
• should receive a vitamin D supplement of 400 IU/day.
Treatment
1. Administration of vitamin D preparation:
• Vit D2 = ergocalciferol
• 25-hydroxy vitamin D = calcifedol
• 1 hydroxy vitamin D = one alpha
• 1, 25 Di hydroxy Vitamin D = Calcitriol
[Link] supplement initially in severe disease
• To avoid hungry bone hypocalcaemia
Supervised by :
[Link]. Bayoumi Gharib