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Rickets
1600
History
Pathogenesis
Defective
mineralization of
cartilage taking
place in the
epiphyseal growth
plate, leading to
widening of the
long ends of
bones, growth
retardation, and
skeletal
deformities in
children
Causes of calcipeonic
rickets
1- vitamin D deficiency.
2- defect of 1-alph
hydroxylase.
3- dietary ca deficiency.
4- chronic R F.
Radiological findings:
Widening
CLINICAL MANIFESTATIONS
Skeletal findings:
Skull:
delay
closure of the
fontanelles
wide suture.
parietal & frontal bossing.
craniotabes.
Thorax:
1-enlargement of the
costochondral
junction.
2- development of
harrison sulcus.
3- pectus carinatum.
Extremities:
1- increase
width of
epiphyseal
line at the
distal
forearm &
knee.
2- swelling.
3- genovarum.
4-genuvulgum.
5- wind swept.
Spine
1- scoliosis.
2-kyphosis.
1- dental hypoplasia .
2- dental abscesses.
3- hypotonia.
4-seizure.
5- acquire infection.
6- increase sweating.
7- tetany.
8- cataract.
9- Calcification of the Basal
Ganglia
10- extra pyramidal disorder.
11- malnutrition.
Laboratory Findings
ALP increase.
Serum phosphorus will be low
Serum calcium low / normal
Serum concentration of the PTH
increased
TRP .
Serum 25-OH vit D
1,25-OH2 vit D .
Vitamin D Deficiency
Rickets
Vitamin D deficiency
Rickets
Vitamin deficiency rarely occurs
in newborns, but symptoms most
commonly develop bet 4 & 8mon.
The main reasons for inadequate vit
D supply in infants are
prolonged breast feeding without
vit D supplementation &
concomitant avoidance of sun
exposure .
Dark
skin is an additional
risk factor for developing
rickets in breast feed
infants.
Laboratory finding:
Serum calcium normal | low.
Serum phosphate always low.
Serum ALP elevated.
Serum 25-OH vit D
low.
Serum concentration of the PTH
increased
A generalized aminoaciduria occurs from
the parathyroid activity; aminoaciduria
does not occur in familial
hypophosphatemia rickets (FHR).
Treatment:
Vitamin
D 5000 IU | day.
CA intake should be maintained at 1000
mg|day.
This regime should lead to the
resolution of biochemical & radiological
abnormalities within 3 monnth.
Reappearance of urinary ca excretion
shows that the bodys vit D & ca stores
have been refilled.
If the pt has no detectable calciurea
after 3 month of treatment , contiuation
of the same Rx regimen for another 3mon
is advisable.
Alternative Recommended
regiems
An
Monitoring:
In nutritional rickets, the phosphate
level rises in 96 hours and
radiographic healing is visible in 67 days (differentiating point with
FHR)
Serum ca, ph, ALP
urinary ca | creatinine ratio should
be measured 4 wks after start of
therapy.
Also repeated after 3mon of therapy &
radiographs should be obtained.
sun exposure
(usually 510 min of exposure of the
arms and legs or the hands, arms,
and face, 2 or 3 times per week)
In one study as little as 20 min/d
of ultraviolet light to the face of
a light-skinned baby is sufficient;
CALCIPEONIC RICKETS
Pseudo vitamin D deficiency
Or
Vitamin D Dependent type 1
Rickets
Or
1 alpha hydroxylase
deficiency
Skin
dihydrotachysterol
Ultraviolet light
cholecalciferol Vitamin D3
calcidiol
Hydroxylation in liver
25 hydroxycholecalciferol
Hydroxylation in kidney
calcitriol
kidney
1-25
Hydroxy
Active metabolite
cholecalciferol
PTH
Facilitate hydroxylation
Ergosterol
Vitamin D2
Pseudo vitamin D
deficiency:
It
is AR disorder cause by
defective conversion of
calcidiol to calcitriol.
The gene encoding the enzyme
that is responsible for the
conversion has been mapped to
chromosome 12q14.
The biochemical findings are
normal serum level of calcidiol
& low calcitriol.
Treatment:
Replacement
therapy with
calcitriol, an off-labeled use of
this drug.
Wt < 10 kg (1 microgram | day)
Wt > 10 Kg (2 microgram | day)
Rx is continued until the bone is
healed.
There after the maintenance dose
varies bet 0.25 to 8 microgram |
day.
Monitoring
Closed
Radiographs
During
administration of maintenance
therapy , pts evaluated at 3mon
intervals , hand x-ray performed once|year
to check for appearance of ricketic
changes.
Vitamin D Resistant
Rickets
Or
or
hereditary vit D
resistant
Known
as hereditary vit D
resistant receptor.
It is a very rare form of rickets.
Reflecting the type of mutation
within the vit D receptor & the
amount of residual vit D receptor
activity.
It is AR disorder caused by the
mutation in the gene encoding the
vit D receptor.& the defect in the
Receptor interferes with binding of
hormone R complex to DNA threby
preventing calcitriol action.
Affected
children appear
normal at birth but develop
rickets within the 1st 2year
of life.
Alopecia in 2\3 of cases &
is a marker of D severity.
Rx (2 microgram| day of
calcitriol) & 1000mg of ca.
Monitoring
Should
Calcium deficiency
Insufficient
MCQ
CP child with seizure
disorder having good
nutrition and care by
parents
Presented with fractures
what will be the
possibility?
Child abuse
Vitamin D deficiency
Drugs.Anticonvulsant
Phosphopenic rickets
Definition
Rickets caused by phosphate
deficiency.
Causes:
1- inadequate nutrition.
2- increase renal loss.
Classifications:
Nutrition
Parentral
nutrition.
Prematurity.
Increase renal
loss:
familial
hypophosphatemia
.
Renal tubular
acidosis.
Fanconi syndrome.
Oncogenesis.
Rickets of Prematurity
1)
Diagnosis
History
Physical
examination usually
reveals few or no sign of rickets
except for craiotabes.
lab studies show:
low P with normal ca serum.
Decrease P in urine with increase
ca.
x-ray with severe
osteopenia with
typical metaphyseal fracture of
rickets & fractures rib.
Prevention
1- daily intake of (10-15 mg)
vitaminD in 1st wk of life.
2- elemental ca (50-60 mg | kg |
day)
3- inorganic phosphorus (30-40mg
| kg| day)
Familial hypophosphatemic
The
Incidence
1|20-25,ooo .
Clinical features
1- Usually occurs between end of
the 1st year to 3 years.
2- slow growth & deformities in
lower extremities.
3- Poor dental development &
tooth abscesses.
Clinical findings
Similar
to those of nutritional
rickets, but without proximal
myopathy.
have high bone density.
infantile skull defects are not
apparent as hypophosphatemia is
usually clinically evident at a later
age.
calcium levels normal,
NO tetany nor secondary
hyperparathyroidism
How to differentiate
it from calcipeonic
rickets ??
Investigations
1234-
Treatment
In
Treatment:
Vit D (20-60 ng|kg|d)
2) Phosphate (0.2- 1 g|d) in
young children
(1-4 g|d) in older children.
3) Minor serum ca, p, ALP &
urine excretion of ca to avoid
nephrocalcinosis)
1)
Monitoring
Calcitriol
Differential DX
1- Fanconi syndrome
2- Renal tubular acidosis
3-Oncogenic Rickets