Understanding rickets types,diagnosis,prevention & treatment dr.sandeep c agrawal agrasen hospital gondia india

Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Dr.Sandeep Agrawal
Consultant Orthopedic Surgeon
MS,DNB
Agrasen Hospital
Gondia
Maharashtra
India
drsandeep123@gmail.com
!
www.agrasenortho.com
!
09960122234
RICKETS :TYPES,DIAGNOSIS
PREVENTION, & TREATMENT
Active Rickets Recovery

Rickets (Rachitis)
Metabolic disease of growing
bone that is unique to children
(especially of ﬁrst 2 years) and
adolescents.
.Caused by failure of osteoid
to calcify in growing bones.

Growth plate in normal bone shows: 
Zone of resting
cartilage
(one layer of cells).
!
Zone of proliferating
cartilage:
Regular columns of
cells originating
from resting layer).

Growth plate :
Zone of degeneration :
(cells become swollen with glycogen,
glycolytic enzymes and alkaline
phosphatase. Calcium is deposited in
the matrix. It is sharply demarcated in
X ray film).
!
Zone of ossification :
!
(Blood vessels invade the developing
bone with ossification and remodeling
resulting in mature bone).

In rickets 
Zone of proliferation:
increases &
becomes very vascular causing enlargement of
metaphyseal area and invades adjacent zone of
degeneration.
!
Zone of degeneration:

Fails to mineralise &
newly formed tissue called osteoid is excessively
deposited and being soft it gives way with
pressure causing bulging and deformity of
metaphyseal area of long bones
!
(this is responsible for ﬂaring of the ends of
long bones and rachitic rosary).

Types of Rickets
1.Nutritional Rickets or 2.Vitamin
D-deficiency Rickets
3.Vitamin D-dependent Rickets
Type I
Type II
4.Vitamin D-resistant Rickets
(“looks like Rickets”)
5.Secondary Rickets

8
Rickets

PATHOGENESIS  
Causes of vitamin D deficiency
1. Disorders associated with Vitamin D
synthesis
Deﬁciency in cutaneously synthesized vitamin D
Lack of dietary intake
!
2. Disorders associated with Vitamin D
absorbtion
!
3. Chronic diseases of Liver or Kidney
!
4. Congenital anomalies of metabolism of
Vitamin D, Ca, P.

Deﬁciency in cutaneously synthesized
vitamin D
!
Cancer
???

Congenital anomalies of metabolism of
Vitamin D, Ca and P
1.Vit D-dependent rickets type 1
!
(pseudovitamin D-deficiency rickets)
- defect in gene coding of renal 1-alpha-hydroxylase.
!
!
2.Vit D-dependent rickets type 2
!
(hereditary 1-alfa, 25-dihydroxyvitamin D-resistent
rickets)
- mutation exists in the vitamin D receptors (VDR).
!
3.Vit D-resistent rickets (Familial
hypophosphatemic rickets) -
!
mutations of the phosphate-regulating gene on the X chromosome

RENAL LOSSES
X-linked hypophosphatemic rickets[*]
Autosomal dominant hypophosphatemic rickets[*]
Hereditary hypophosphatemic rickets with
hypercalciuria!
Overproduction of phosphatonin!
Tumor-induced rickets[*]
McCune-Albright syndrome[*]
Epidermal nevus syndrome[*]
Neuroﬁbromatosis[*]
Fanconi syndrome
Dent disease
DISTAL RENAL TUBULAR ACIDOSIS

PHOSPHOROUS DEFICIENCY
INADEQUATE INTAKE:
-rare ,severe anorexia
-long-term use of aluminum-
containing antacids
!
!
PHOSPHATONIN:
decreases renal tubular reabsorption
of phosphate and therefore decreases serum phosphorus.

CLINICAL MANIFESTATIONS
I. Specific to the bone tissue in
rickets:
!
A.osteomalacia
B.Hyperplasia of osteoid tissue
C.Hypoplasia of osseous tissue
!
!
II. Not specific to the bone tissue in
rickets

Symptoms Specific to bone tissue  
 
Symptoms of osteomalacia :
!
1.Craniotabes
!
2.Softening of ribs
!
3.Kyphosis
!
4.Bowing in the legs
!
5.Softening of the big fontanel's edges

Hyperplasia of osteoid tissue:
!
1.Increase of frontal and occipital tubers
(frontal bossing, “caput quadratum”)
!
!
2.Costohondral prominence
("rachitic rosary”)
!
3.Chest deformities:
(Harrison’s groove and pigeon breast)

Hypoplasia of osseous tissue:
!
Delayed fontanel closure
!
Delayed teething
!
Enamel hypoplasia
!
Costal or Lower extremity fractures
(particularly greenstick fractures)
!
Lag of growth of tubular bones in length
(in severe cases)

 
Symptoms NOT Specific to bone tissue in rickets: 
Occipital alopecia
!
Muscular hypotonia
!
Constipation
!
Hypocalcemic convulsions
!
Anemia
!
Increased risk for respiratory infections
!
Growth retardation and low height−for−age
(rachitic dwarﬁsm)

BREAST-FED INFANTS:
Low Vitamin D Content of Breast
Milk,
so infant rely on Cutaneous
Synthesis or Vitamin Supplements.

In acute course of rickets symptoms of osteomalacia
prevail
In subacute – symptoms of hyperplasia of osteoid
tissue.
!
Initial period is starting from 2-3 month of life, lasts from
2-3 weeks to 2-3 months. In breast-fed infants whose
mothers have osteomalacia, rickets may develop before 2
months.
!
Florid rickets appears toward the end of the 1st and
during the 2nd year of life.
!
Later in childhood, manifest vitamin D deﬁcient rickets
is rare.

In rickets 
In the shaft: bone is resorbed and new osteoid
is formed around the shaft from the
periosteum
!
During healing of rickets: a new line of
calcified bone (line of provisional
calcification) appears at the end of zone of
degeneration out standing from rarefied
osteoid then the area between it and the
diaphysis gradually fills with normal density
bone.

 
 
 
1.Craniotabes:
Occurs due to thinning of the inner
table of occipital bone under the
pressure of intracranial contents with
failure of mineralization.
!
It can be elicited by gentle pressure
by both thumbs of the occipital bone,
which produces a dent with crackling
sensation (ping pong ball like).
!
This can be elicited from 3 to 12
months of life.

 
 
Clinical manifestation Early rickets 
2. Rosary:
Enlargement of costochondral
junction of ribs giving the appearance
of beads due to excessive osteoid
formation.
!
3. Radiological ﬁnding of active rickets

!
4. Rise of serum alkaline phosphatase
enzyme.

Advanced rickets 
Head:
Bossing of skull: excessive proliferation of cartilage at occipital
and parietal eminences makes the skull looks like a box.
!
Enlargement of head circumference.
!
Delayed closure of anterior fontanels, which remains widely
open
!
Delayed eruption of primary dentition with possible enamel
hypoplasia

Thorax:

Rosary beads.
!
Longitudinal sulcus: appears lateral to the rosaries
due to compression of rib cage by atmospheric
pressure at weakest point.
!
Harrison's sulcus: A transverse sulcus along the
lower border of the costal margin due to inward
traction of the ribs at sites of diaphragmatic
insertion.
Advanced rickets

Rickets
Characteristic feature:
!
Widening of wrist, knee and
ankle due to physeal over
growth

Thorax:

!
Forward protrusion of sternum and adjacent costal cartilage.
!
Everted costal margin below Harrison's sulcus.
!
The overall shape of the chest wall is called “pigeon chest”,
which is nearly triangular in cross section.
Advanced rickets

Abdomen:
Liver and spleen become palpable as deformed chest and weak
abdominal muscles
!
Abdomen appears protruded.
!
Pelvis:
Pelvic inlet is narrowed by forward protrusion of sacral promontory,
while pelvic outlet is narrowed by forward projection of the coccyx.
!
This might be very hazardous in females during labor in the future.
Advanced rickets

Spinal column:
!
Correctable kyphosis in the dorsal
region and lordosis in the lumbar
region due to muscle weakness and
laxity of ligaments.
Advanced rickets 
Scoliosis

Complications 
Respiratory: infections or atelectasis due to chest
deformities.
!
GIT: diarrhea or constipation.
!
Bony deformities or fractures.
!
Anemia: due to chronic infection or deﬁciencies.
!
Tetany: due to hypocalcaemia in late cases after
exhaustion of parathyroids.

Rickets leads to cupping and to
a brush−like appearance of the
epiphyseal ends on radiograms.
!
Radiographs of the knee of a
3.6-year-old girl with
hypophosphatemia depict
severe fraying of the
metaphysis.
N Active Rickets recovery

Rickets in wrist - uncalcified lower
ends of bones are porous, ragged,
and saucer-shaped
(A) Rickets in 3 month old infant
(B) Healing after 28
days of treatment
(C) After 41 days
of treatment
A
B C

Radiologic Changes 
Active rickets:
They occur early, are pathognomonic and diagnostic, and help
in follow up.
Distal ends of long bones appear flared, frayed and cupped.
!
Distance between the distal end of radius and metacarpal bones
appears wider than normal (by the area filled with osteoid).
!
Diaphysis appears rarefied and may show double contour or
deformity.

Healing rickets:
Occurs 2-3 weeks after
successful treatment.
Appearance of the line of
provisional calciﬁcation at the
end of metaphysis, then the
osteoid in between this line
and diaphysis gradually
ossiﬁes.

Healed rickets:
Bone density returns to
normal with slight cupping
remains as a stigma of
previous rickets.

RADIOLOGICAL FINDINGS

RADIOLOGICAL FINDINGS
◆ Rosary beads of rickets
!
!
!
!
!
!
!
◆ curved back

Biochemical parameters: 
Serum alkaline phosphatase is elevated due to over activity
of osteoblasts during the formation of excessive osteoid
(normal 5-15 Bodansky units /dl).
!
Serum inorganic phosphorus is decreased (normal 4.5-6.5
mg/dl).
!
Serum calcium is maintained within normal values (9-11
mg/dl) due to compensatory hyperactivity of parathyroid
gland.
!
Vitamin D and its metabolites are decreased.

42
Rickets

1. Low dosage and long−term vitamin D
therapy (gradual method)
1000− 10 000 IU/day (125-250 mcg) for 2−3
months
Vitamin D can be given according to the infant’s
age as follows:
1000 IU/day for infants < 1 month of age,
1000-5000 IU/ day for children 1-12 mon.
5000-10 000 IU/day for children > 12 mon.
If hypocalcemia is seen the initial dose of vit D
must be doubled.
Afterwards, it is recommended to give
maintenance therapy of 400 IU/ day.

Because this method requires daily treatment,
success depends on compliance.
Levels of Ca and P are normalized in 6−10 days by
this therapy, while it takes 1−2 months for PTH to
reach normal levels.
Depending on the severity of the disease, it may
take 3 months for the normal serum ALP levels to
be restored and the radiological ﬁndings of rickets
to disappear.
!
In this treatment model, lack of compliance is an
important cause of lack of response

STOSS THERAPY
300,000–600,000 IU of Vitamin D
Are Administered Orally or
Intramuscularly As 2–4 Doses Over
1 Day.
!
Stoss Therapy Is Ideal in
Situations Where Adherence to
Therapy Is Questionable.

2. Stoss therapy  
(single-day therapy)
For patients who are suspected to have poor
compliance, a high dose of vitamin D can be given
orally or intramuscularly as a single dose of 100
000−600 000 IU after the ﬁrst month of life.
!
This dose is usually divided into 4 or 6 oral doses.
!
An intramuscular injection is also available.

Stoss therapy  
(single-day therapy)
Administration of 150 000−300 000 units of
vitamin D and 600 000 units (15,000 mcg) in
severe rickets is an effective and safe method of
treatment.
!
Vitamin D (cholecalciferol) is well stored in the
body and is gradually released over many weeks.
!
This treatment evokes a rapid clinical response,
resulting in biochemical recovery in a few days
and radiological recovery in 10−15 days.

Single-day therapy avoids problems with
compliance and may be helpful in
differentiating nutritional rickets from
familial hypophosphatemia rickets (FHR).
!
In nutritional rickets, the phosphorus level
rises in 96 hours and radiographic healing is
visible in 6-7 days.
!
Neither happens with FHR.

Vit D deﬁciency rickets –
1 alpha vit D3 or vit D2(arachitol) 6,00,000 IU
every two to three weeks IM 2 to 3 doses.
(STOSS REGIMEN)
!
VDDR 1 –!
1,25 vit D 0.25 to 1.0 mcg/day orally.
!
VDDR 2 –!
1,25 vit D or 1 alpha Vit D 6 mcg/kg/day
(total of 30 to 60 mcg orally) with calcium
supplements.

RENAL OSTEODYSTROPHY
Low phospharous diet [low phosphate formulas to
infants].
Phosphate binders to enhance fecal excretion –
calcium carbonate & calcium acetate, newer non-
calcium based binders – sevelamer [Aluminum based
binders should be avoided].
!
Vit. D therapy :
If 25 (OH) D levels are low treat with ergocalciferol.
If 25 (OH) D levels are normal but PTH is high, treat
with calcitriol or 1,25 (OH) D 0.01-0.05 mg/kg/24hr

Familial  
hypophosphatemic
Low stature in the family
Dental deformities
Orthopaedic abnormalities
!
Consanguineous marriage
indicated for hereditary
hypophosphatemic rickets

Pharmacologic Therapy  
of Vit D ̶ resistant rickets 
Familial hypophosphatemic rickets  
Usual vitamin D preparations are not useful for
treatment in this disorder, because they lack signiﬁcant
1-alpha-hydroxylase activity.
!
Original treatment protocols advocated vitamin D at
levels of 25,000-50,000 U/d (at the lower limit of
toxic dosage).
!
Amiloride and hydrochlorothiazide are administered
to enhance calcium reabsorption and to reduce the
risk of nephrocalcinosis.

FAMILIAL HYPOPHOSPHATEMIC
RICKETS
Replacement of Phosphate every 4 to 6 hourly
!
1 alpha Vit D

Sulkovich’s test
!
Assessment of result:
!
“+” – normal level
!
“++, ++++” – hypercalcaemia and hypercalciuria

Tertiary level investigations
Estimation of vitamin D metabolites to
differentiate VDDR type 1 from type 2
!
Receptor vitamin D interaction :
– in vitro study to assess VDDR type 2
!
Bone mineral content
!
Bone densitometry

DIFFERENTIAL DIAGNOSIS
Vitamin D ̶ deﬁcient rickets
Vitamin D ̶ dependent rickets (types I and II)
Vitamin D-resistent Rickets (“looks like Rickets”):
Hereditary X-linked hypophosphatemic rickets with hypocalciuria
Familial hypophosphatrmic
Phosphat-diabetes
Achondrodroplasia
Fanconi syndrome(types I and II)
Pseudohypoparathyroidism
Renal tubular acidosis
Cystinosis
Tyrosinemia
Secondary Rickets
(renal, gastrointestinal, tumor-associated, medications,
malabsortion syndromes)

Prognosis 
Usually good with improvement after
exposure to sun light in the morning or
afternoon or after administration of Vitamin
D.
!
Deformities improve with normal growth but
very slowly.
!
Sometimes, severe skeletal deformities require
orthopedic correction.

nonspecific specific
!
specific
PREVENTION
Antenatal Postnatal
nonspecific

Prevention 
⦿ Exposure to ultraviolet rays in
sunshine (10 to 20 minutes/day).

!
⦿ Daily requirements of vitamin D are
400-800 i.u /day.

!
⦿ For low birth weight infants, and
patients of malnutrition or
hypothyroidism during receiving
their specific treatment, 1000-1500
i.u /day are needed for the
accelerated rate of growth.

Also with a perspective to prevent
early rickets, it is recommended that
vitamin D at a dose of 2000 IU/day
should be administered during the last
trimester of pregnancy to mothers
with poor exposure to sunlight due to
various reasons and who are at high
risk of Vitamin D deﬁciency.

The Endocrine Society recommends
(2011) :
The Endocrine Society, along with the Canadian Society of
Endocrinology and Metabolism and the National Osteoporosis
Foundation, published a clinical practice guideline in 2011 titled
"Evaluation, Treatment and Prevention of Vitamin D Deﬁciency."
!
400 IU (10 mcg) for children aged 0-1
year
600 IU/day (15 mcg) for children aged
1-18 years
1500-2000 IU for all men and women
older than 18 years, including lactating
and pregnant women whose infants are
not ingesting vitamin D.

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