RICKETS

Presentor - Dr Sujatha
Moderator - Dr Rajendra
INTRODUCTION
• Normal bone growth and mineralization
requires adequate calcium and phosphate.
• Deficient mineralization - result in rickets
and/or osteomalacia.
• In rickets, there is deficient mineralization at
the growth plate and architectural disruption
of this stucture.
• Osteomalacia refers to impaired
mineralization of the bone matrix.

• Rickets and osteomalacia usually occur

together as long as the growth plates are
open

• Only osteomalacia occurs after the growth

plates have fused.
 ETIOLOGY OF RICKETS
• Mineralization defects are classified according
to the predominant mineral deficiency.

- Calcipenic rikets

- Phosphopenic rickets
 CACIPENIC RICKETS

NUTRITIONAL NON NUTRITIONAL

CALCIUM DEFICIENCY VDDR TYPE 1

VIT D DEFICIENCY
VDDR TYPE 2
 Phosphopenicrickets
• Hyper phophaturia
 AD hypophosphatemic rickets
 X linked hypophosphatemic rickets
 Hereditary hypophosphatemic rickets with
hypercalciuria
 RTA ( proximal RTA , Distal RTA )

• Nutritional depriviation
• Aluminium containingantacids
• Familial hypo phosphatemic rickets
• Overproduction of FGF-23(tumour induced
osteomalacia, albright syndrome, epidermal nevus
syndrome)
• Fanconi syndrome
• Dent disease
Inhibitors of mineralization.
• Parentral Aluminium
• Bisphosphonates
• Fluorides
 Pathophysiology
• Regardless of the cause ,low serum
phosphate levels accounts for the defect in
mineralization and rickets …!!!!!!
What happens inrickets…?
 What happens inrickets…..

• In rickets, failure of apoptosis of the hypertrophic chondrocytesoccur.

• Causes irregular and deformative expansion of the cartilage
tissue formed by hypertrophic chondrocytes in the growth plate.
• This leads to cupping and brush−like appearance of the
epiphyseal ends on xray.
 CLINICAL FEATURES
• Rickets is the disease of a growing bone; therefore, the
deformities and clinical findings are more specific to the
bone tissue that is undergoing rapid growth at the age
of onset of rickets.

• First year – Skull , Upper limb andribs are affected.

• Second year – Legs more affected

 Osseous signs and symptoms

• Swelling wrists andankles • Frontal bossing

• Delayed fontanelleclosure • Craniotabes (softening of
skull bones, usually
• Delayed tootheruption evident on palpation )

• Legdeformity(genu varum, • Dental abcess

genu valgum,windswept
deformity) • Bone pain, restlessness,
and irritability
• Rachiticrosary (enlarged
costochondraljoints—felt
anteriorly,lateralto nipple
line.)
 Non-osseous features
• Hypocalcemic seizure and tetany

• Hypocalcemic dilated cardiomyopathy (heart

failure, arrhythmia, cardiac arrest, death)

• Failure to thrive and poor linear growth

• Delayed gross motor development with muscle

weakness
 Rickets – Xray changes
• Splaying, fraying, cupping, and coarse
trabecular pattern of metaphysis

• Widening of the growth plate

• Osteopenia

• Pelvic deformities including outlet narrowing (risk of

obstructed labor and death)

• Minimal trauma fracture

Nutritional rickets/calcipenic rickets
Vitamin Dmetabolism
 Terms to be known

Vitamin D status
•Based on serum 25-hydroxyvitaminD
(25OHD) levels.

– Sufficiency, 50 nmol/L
– Insufficiency, 30–50 nmol/L
– Deficiency, 30 nmol/L

Vitamin D toxicity

• Defined as hypercalcemia and serum

25OHD 250 nmol/L, with hypercalciuria and suppressed
PTH.
Calcium status
• Based on the amount of calcium intake-
 Sufficiency - 500 mg/d
 Insufficiency - 300–500 mg/d
 Deficiency - 300 mg/d
 Definition of Nutitional Rickets
• Nutritional rickets, is a disorder of defective
chondrocyte differentiation and mineralization of the
growth plate and defective osteoid mineralization, is
caused by vitaminD deficiency and/or low calcium
intake in children.
• Calcipenic (hypocalcemic) rickets is characterized by
deficiency of calcium or more commonly vitamin D.

• Rickets can occur despite adequate vitamin D levels if

the calcium intake is very low.

• This problem generally does not occur unless calcium

intake is very low because vitamin D increases
intestinal calcium absorption.
Calcium↔Vit D
Vitamin D deficiency and fractures
• Children with radiologically confirmed rickets
have an increased risk of fracture.

• Children with simple vitamin D deficiency are

not at an increased risk of fracture.
 Causes of vitamin D deficiency
• Reduced cutaneous synthesis
– in people who live without sun exposure

• Cold climate
– common at the end of the winter due to less sun
exposure

• Extensive burns
– In patients with a history of extensive burn injuries,
vitamin D synthesis in skin is below normal, even with
sun exposure
• Nutritional deficiency
- It can occur in people who consume foods that
are not fortified with vitamin D or if there is
intestinal malabsorption of vitamin D.

• Elderly people
– Cutaneous vitamin D production and vitamin D
stores decline with age.
– Achlorhydria-limits calcium absorption.
– Older persons, in addition, may also be confined
indoors
• Maternal vitamin D deficiency
Vitamin D is transferred from the mother to the fetus
across the placenta, and reduced vitamin D stores in the
mother are associated with lower vitamin D levels in the
infant.

• Prematurity
– Third trimester is a critical time for vitamin D transfer
because this is when the fetal skeleton becomes calcified,
requiring increased activation of 25(OH)D to 1,25(OH)2D
in the maternal kidneys and placenta.

– Vitamin D deficiency in the mother during this period can

cause fetal vitamin D deficiency, and in severe cases, fetal
rickets.
• Exclusive breast feeding

– The vitamin D content of breast milk is low (15–50 IU/L) even in

a vitamin D replete mother.

– Most breastfed infants need to be exposed to sunlight for at

least 30 minutes/week while wearing only a diaper in order to
maintain 25(OH)D levels at >20 ng/mL.

• Obesity

25(OH)D levels are low in obese individuals as vitaminD is

sequestrated in fat.
• Renal diseases
– Chronic renal disease
– Nephrotic syndrome
– Distal renal tubular acidosis

• Gastrointestinal disease

• Liver disease

• Medications
 DIAGNOSIS

• The diagnosis of nutritional rickets is made on

basis of
– History
– Physical examination
– Biochemical tests
– Confirmed by radiographs
 History and examination
• Onset and progression of deformities

• Sun exposure and dietary calcium intake

• History suggestive of malabsorption, chronic

renal failure, liver disease,intake ofAED.

• H/O numbness, tingling, paresthesia, tetany :

calciopenic rickets.
• Anthropometry

• Anemia, hypertension, short stature – Chronic renal

disease.

• Jaundice , edema, HSM – Chronic liverdisease

• Complete physical and dental examination

LAB FINDINGS
Treatment and Prevention of
Nutritional rickets
 Dose of vitamin D and Calcium for
the treatment of Nutritional
Rickets
• The minimal recommended dose of Vitamin D is 2,000
IU/day(50 µg) for a minimum of 3 months.

• Oral calcium ,500mg/day ,either as a dietary intake or

supplements ,should be routinely used in conjuction
with vitamin D ,regardless of age and weight.

“Combined treatment is justified because studies have shown

that the diet of children and adolescents with nutritional
rickets is generally low in both vitamin D and Calcium.”
Management of Hypocalcaemia Due to
Vitamin D Deficiency
SYMPTOMATIC HYPOCALCEMIA DUE TO ASYMPTOMATIC VITAMIN D DEFICIENCY
VITAMIN D DEFICIENCY

IV calcium gluconate (1-2ml/kg) (up to a Oral calcium 30-75mg/kg/day (up to a

maximum of 20 ml/ dose) 1-2 doses (till maximum of 1 – 2 g/ day) in 3 divided
symptoms subside). Then oral calcium 30- doses X 1-2 weeks
75mg/kg/day (up to a maximum of 1-2 g/
day) in 3 divided doses X 1-2 weeks

Reduce the dose by half and continue till Reduce the dose by half and continue till
PTH and vitamin D becomes normal. PTH and vitamin D becomes normal.
Calcitriol 0.05 mcg/kg/ day (up to a Calcitriol 0.05 mcg/kg/ day (up to a
maximum of 0.5 mcg/ day) may be maximum of 0.5 mcg/ day) may be
needed till calcium levels normalize. needed till calcium levels normalize.
Global Consensus Recommendations on Prevention
and Management of Nutritional Rickets/
J Clin Endocinol Metab,feb 2016
What we follow→IAP
 STOSS THERAPY
• Lack of compliance is an important • Advantage-
cause of lack of response to therapy.
– Vitamin D is efficiently stored
• An option to prevent this is to in adipose tissue and muscle
administer high dose of 1 lakh to 6 and is continuously converted
lakh IU of vitamin D over 1-5 days into active form
• Used in patients with poor – Increased and sustained levels
compliance of 25-(OH) D levels especially
• A high dose of vitamin D –given orally in the regimen with 6 lakh IU
or IM as a single large dose of 1 lakh • Disadvantage-Can lead to
to 6 lakh IU after the first month of hypercalcemia at high doses
life.

Age group <1 MONTH 1-12 MONTHS 1-18 YEAR

STOSS THERAPY 1 lakh-6 lakh units 3-6 lakh units over 3-6 lakh units over
(Oral or IM) over 1- 5 days 1-5 days 1-5 days
(preferably 3 lakh
What is the end point of treatment?
“End point of ALP level <350U/L and radiographic
evidence of near complete healing rickets was seen
in a higher percentage of patients who received a
combination of calcium and vitamin D (58%) or
calcium alone (61%) than in those who received
vitamin D alone (19%)”

Thacher TD,FischerPR,Pettifor JM,et al.A comparision of calcium,vitamin D ,or

both for nutitional rickets in nigerian children .N Engl J Med .1999;341(81):563-568
 ORAL OR INTRAMUSCULAR
• Oral treatment restores 25OHD levels faster than
intramuscular treatment.

• For daily treatment both D2 and D 3 are equally effective.

• When single dose are used ,D3 appears to be preferable

compared to D2 because the former has a longer half life.

• Duration- minimum of 12 weeks ,recognizing that some

children may require longer treatment duration.
 Available Preparations
Vitamin D:

– Vitamin D3 (cholecalciferol) has been reported to have

greater efficacy in raising 25(OH)D concentrations, most
supplements available thus contain D3.

Cacium:
– Most calcium supplements contain calcium carbonate.
– Preparations with gluconate and citrate are also available.
• Calcium carbonate contains the highest amount elemental
calcium (40%) compared to other preparations (gluconate,
citrate).

• Thus, given the lower price and higher amount of

elemental calcium, it should be the first choice.

• Supplements containing calcium citrate may be taken with

or without food.

• Calcium carbonate or any other form of calcium, it should

be taken with food.

• All forms of calcium work better if taken in divided doses

Prevention of nutritional rickets
 THE SUNLIGHT
• No exact studies done as it is multifactorial
• UVB (290-315 nm ) is preferable.
• The more oblique rays are absorbed by ozone
so less role before 10 am and after 3 pm

“A healthy adult in a bathing suit exposed to an amount

of sunlight that causes a minimal erythema (light pinkness to
the skin 24hour after exposure ;1 MED)is equivalent to
ingesting approximately 20,000 IU of vitamin D”
 Candidates for vitamin D
supplementation
• Children with history of symptomatic vitamin
D deficiency requiring treatment

• Children and adults at high risk of vitamin D

deficiency with factors or conditions that
reduce synthesis or intake of vitamin D

• Pregnant and lactating mother

Vitamin D supplementation
 Prevention of osteomalacia during
pregnancy and lactation and
congenital rickets
• Pregnant women should receive 600IU/d of supplemental
vitamin D

• Pregnant women do not need calcium intakes above

recommended non pregnant intakes to improve neonatal
bone

• Advantages of taking supplementation during pregnancy

1. Prevention from large fontenelle
2. Avoids neonatal hypocalcemia
3. Prevention from congenital rickets
4. Improve dental enamel formation
 Influence of calcium or vitamin D
supplementation in pregnancy or lactation
on breast milk calcium or vitamin D
• Maternal calcium intake during pregnancy or lactation
is not associated with breast milk calcium
concentrations

• Lactating women should not take high amounts of

vitamin D as a means of supplementing their infants

• Lactating women should ensure they meet the dietary

recommendations for vitamin D (600IU/D)
 Public health strategies for rickets
prevention
Assessment of disease burden:

• The prevalence of rickets should be determined by

population- based samples, by case reports from sentinel
centers, or by mandatory reporting.

• Screening for nutritional rickets should be based on clinical

features, followed by radiographic confirmation of
suspected cases.

• Population-based screening with serum 25OHD, serum ALP,

or radiographs is not indicated.
 Strategies for rickets prevention:

• Universally supplement all infants with vitamin D

from birth to 12 months of age, independent of their
mode of feeding.

• Beyond 12 months, supplement all groups at risk and

pregnant women.

• Recognize nutritional rickets, osteomalacia, and

vitamin D and calcium deficiencies as preventable
global public health problems.
• Implement rickets prevention programs in
populations.

• Monitor adherence to recommended vitaminD and

calcium intakes.

• Fortify staple foods with vitamin D and calcium, as

appropriate, based on dietary patterns.
REFERENCES:
• Pediatric Endocrine Disorders 3rd edition by Meena PDesai.
• IAP speciality series on pediatricendocrinology
• GLOBAL CONSENSUS RECOMMENDATIONS ON
PREVENTION AND MANAGEMENT OF NUTRITIONAL
RICKETS.Horm Res Paediatr 2016 8;85(2):83-106.
• Review article Rickets–vitamin D deficiency and dependency
Manisha Sahay, Rakesh Sahay1
• Journal of Clinical Research in Pediatric Endocrinology-J Clin
Res Ped Endo 2010;2(4):137-143 DOI: 10.4274/jcrpe.v2i4.137
Thank you……..