7 Rickets

Rickets
• Disease of growing bone caused by unmineralized

matrix at the growth plates in children only before
fusion of the epiphyses
• Because growth plate cartilage and osteoid continue
to expand but mineralization is inadequate, the
growth plate thickens
• Circumference of the growth plate and metaphysis is
also greater, increasing bone width at the growth
plates and causing classic clinical manifestations,
such as widening of the wrists and ankles.
• The general softening of the bones causes them to
bend easily when subject to forces such as weight
bearing or muscle pull
• This softening leads to a variety of bone deformities.
• Remains a persistent problem in developed
countries, with many cases still secondary to
preventable nutritional vitamin D deficiency
Etiology
• Vitamin D disorders
• Calcium deficiency
• Phosphorus deficiency
• Distal renal tubular acidosis
Vitamin D Disorders
• Nutritional vitamin D deficiency
• Congenital vitamin D deficiency
• Secondary vitamin D deficiency
• Malabsorption
• Increased degradation
• Decreased liver 25-hydroxylase
• Vitamin D–dependent rickets types 1A and 1B
• Vitamin D–dependent rickets types 2A and 2B
• Chronic kidney disease
Calcium Deficiency
• Low intake
• Diet
• Premature infants (rickets of prematurity)
• Malabsorption
• Primary disease
• Dietary inhibitors of calcium absorption
Phosphorus Deficiency
• Inadequate intake
• Premature infants (rickets of prematurity)
• Aluminum-containing antacids
Clinical Manifestations
• Failure to thrive (malnutrition)
• Listlessness
• Protruding abdomen
• Muscle weakness (especially proximal)
• Hypocalcemic dilated cardiomyopathy
• Fractures (pathologic, minimal trauma)
• Increased intracranial pressure
Head
• Craniotabes
• Frontal bossing
• Delayed fontanel closure (usually closed by 2 yr)
• Delayed dentition: no incisors by age 10 mo, no
molars by age 18 mo
• Caries
• Craniosynostosis
• Box like appearance of the head (caput quadratum)
Chest
• Rachitic rosary
• Harrison groove
• Respiratory infections and atelectasis
Back
• Scoliosis
• Kyphosis
• Lordosis
Extremities
• Enlargement of wrists and ankles
• Valgus or varus deformities
• Windswept deformity (valgus deformity of
one leg with varus deformity of other leg)
• Anterior bowing of tibia and femur
• Coxa vara
• Leg pain
Hypocalcemic Symptoms
• Tetany
• Seizures
• Stridor caused by laryngeal spasm
Presentation
• Skeletal deformities
• Difficulty walking owing to a combination of
deformity and weakness
• Failure to thrive
• Malnutrition
• Symptomatic hypocalcemia
Radiology
• The early changes of rickets are seen radiographically
at the ends of long bones, but evidence of
demineralization in the shafts is also present
• Rachitic changes are most easily visualized on
posteroanterior radiographs of the wrist,
• Thickening of the growth plate
• Fraying
• Cupping
• There is widening of the distal end of the
metaphysis, corresponding to the clinical observation
of thickened wrists and ankles, as well as the rachitic
rosary
• Coarse trabeculation of the diaphysis and
generalized rarefaction
Diagnosis
• Based on the presence of classic radiographic
abnormalities
• It is supported by physical examination findings,
history, and laboratory results consistent with a
specific etiology: Serum calcium, phosphorus,
alkaline phosphatase (ALP), parathyroid hormone
(PTH), 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D
(1,25-D), creatinine, and electrolytes
Clinical Evaluation
• Dietary history emphasizing intake of both
vitamin D and calcium
• Sunlight exposure
• Maternal risk factors for nutritional vitamin D
deficiency
• Drug hx(phenobarbital and phenytoin,
increase degradation of vitamin D)
• Hx of renal ds, malabsoption
• Children with rickets might have a history of dental
caries, poor growth, delayed walking, waddling gait,
pneumonia, and hypocalcemic symptoms
• Family hx is critical, given the large number of genetic
causes of rickets, although most of these causes are rare
• It is important to observe the child's gait, auscultate the
lungs to detect atelectasis or pneumonia, and plot the
patient's growth
• Alopecia suggests vitamin D–dependent rickets type 2.
Nutritional Vitamin D Deficiency
• Most common cause of rickets globally
• Sources of vitamin D
 dietary sources
 cutaneous synthesis
• Vitamin D deficiency most frequently occurs in
infancy because of a combination of poor
intake and inadequate cutaneous synthesis
• Transplacental transport of vitamin D, mostly
25-D, typically provides enough vitamin D for
the 1st 2 mo of life unless there is severe
maternal vitamin D deficiency
Dietary sources of vitamin D
• Fish liver oils---- a high vitamin D content
• Egg yolks
• Fortified foods, especially formula and milk (both of
which contain 400 IU/L)
• Breast milk has a low vitamin D content,
approximately 12-60 IU/L.
• Supplemental vitamin D may be vitamin D2 (which
comes from plants or yeast) or vitamin D3
• Vitamin D is transported bound to vitamin D–binding
protein to the liver, where 25-hydroxlase converts
vitamin D into 25-hydroxyvitamin D (25-D), the most
abundant circulating form of vitamin D
• Because there is little regulation of this liver
hydroxylation step, measurement of 25-D is the
standard method for determining a pt's vitamin D
status
• The final step in activation occurs in the kidney,
where the enzyme 1α-hydroxylase adds a second
hydroxyl group, resulting in 1,25-D
1,25-Dihydroxyvitamin D
• Circulates bound to vitamin D–binding protein
• Acts by binding to an intracellular receptor, and the
complex affects gene expression by interacting with
vitamin D response elements
• In the intestine, this binding results in a marked increase
in calcium absorption,
• There is also an increase in phosphorus absorption, but
this effect is less significant because most dietary
phosphorus absorption is vitamin D independent
• Has direct effects on bone, including mediating
resorption
Reading assignment
• Cutaneous synthesis of vitamin D
Clinical Manifestations
• The clinical features are typical of rickets,
• Prolonged laryngospasm is occasionally fatal.
• These children have an increased risk of pneumonia
and muscle weakness leading to a delay in motor
development
Dx
• Hypocalcemia is a variable finding
• The dx of nutritional vitamin D deficiency is based on
the combination of a history of poor vitamin D intake
and risk factors for decreased cutaneous synthesis,
radiographic changes consistent with rickets, and
typical lab findings
• A normal PTH level almost never occurs with vitamin
D deficiency and suggests a primary phosphate
disorder.
Prevention
• Regular exposure to direct sun light of infants and
young children
• Oral administration of vitamin D especially to those
breast fed infants whose mothers are not exposed to
adequate sun light (supplemental dose of 400 IU
Vitamin D daily, orally).
Rx
• Non-pharmacologic
regular exposure to direct sun light without
clothing, without applications of any ointments
and no glass windows
• Pharmacologic
 mega dose of Vitamin D (600,000 IU
intramuscularly as a single dose)

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Rickets

• Disease of growing bone caused by unmineralized

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