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Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Dr.Sandeep Agrawal
Consultant Orthopedic Surgeon
MS,DNB
Agrasen Hospital
Gondia
Maharashtra
India
!www.agrasenortho.com
!09960122234
RICKETS :TYPES,DIAGNOSIS PREVENTION, & TREATMENT
Active Rickets Recovery
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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).
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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).
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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).
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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
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8
Rickets
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Deficiency in cutaneously synthesized vitamin D
!Cancer
???
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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
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Symptoms Specific to bone tissue 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)
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Symptoms Specific to bone tissue 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)
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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)
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BREAST-FED INFANTS: Low Vitamin D Content of Breast
Milk,
so in fant re ly on Cutaneous Synthesis or Vitamin Supplements.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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
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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
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Rickets
Characteristic feature: !
Widening of wrist, knee and ankle due to physeal over
growth
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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
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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
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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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Radiologic Changes
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Radiologic Changes
Healed rickets: Bone density returns to
normal with slight cupping remains as a stigma of
previous rickets.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
RADIOLOGICAL FINDINGS
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
RADIOLOGICAL FINDINGS
◆ Rosary beads of rickets !!!!!!!
◆ curved back
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
42
Rickets
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Familial hypophosphatemic
Low stature in the family Dental deformities
Orthopaedic abnormalities !
Consanguineous marriage indicated for hereditary
hypophosphatemic rickets
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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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
FAMILIAL HYPOPHOSPHATEMIC RICKETS
Replacement of Phosphate every 4 to 6 hourly !
1 alpha Vit D
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Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Sulkovich’s test
!Assessment of result:
!“+” – normal level
!“++, ++++” – hypercalcaemia and hypercalciuria
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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
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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)
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
nonspecific specific! specific
PREVENTION
Antenatal Postnatal
nonspecific
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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.
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
Dr.Sandeep C Agrawal Agrasen Hospital Gondia India www.agrasenortho.com
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