Rickets and osteomalacia are caused by a lack of available calcium and phosphorus needed for bone mineralization. Rickets occurs in children and causes soft, deformed bones and stunted growth, while osteomalacia occurs in adults and causes bone softening. The conditions are usually due to nutritional deficiencies of vitamin D, calcium, or phosphorus. Diagnosis involves blood and urine tests showing low calcium, phosphorus, and high alkaline phosphatase levels. Treatment consists of high dose vitamin D, calcium, and phosphorus supplements.

1. RICKETS & OSTEOMALACIA
By- Dr. MOHIT KUMAR
Moderator- Dr. P.RAJESH
(Associate Professor)

2. RICKETS & OSTEOMALACIA
• These are different expression of the same disease
• Lack of available calcium and phosphorus (or both) for mineralization of newly formed
osteoid.
• RICKETS-
-occur in children
-only before fusion of epiphysis
- Leads to softening of bone and deformity
• OSTEOMALACIA-
-occur in adults
-softening of bone

3. Calcium Metabolism
• Total body calcium- around 1-2kg out of which 99% lies in skeleton
• 50% ionized (active form ) & 50%unionized(bound to albumin,Igs)
• Ionized calcium maintain calcium homeostasis by regulating PTH
secretion &1,25D production

4. Phosphorus Metabolism
• Total body content-600mg(85% in bones)
• 65% of it can be reabsorbed in absence of vitD , in its presence
increases to 90%
• 90% of it is reabsorbed in proximal tubules(Na+phosaphate
cotransporter)

5. VIT D Metabolism
• Major dietary source- D2(calciferol) produced from ergosterol
• Formed in body- D3(cholecalciferol) produced from 7-
dehydrocholestrol
•

6. Parathormone
• Increase ca2+ flow from bone to blood
• Decrease renal clearance of calcium
• Increase absorption of calcium by activating VitD
• In Kidney- Proximal tubule- inhibit phosphate reabsorption
Distal tubule - increase calcium absorption
• In Bones- Acute- causes resorption
Chronic- causes increase in both osteoblastic & clastic activity

7. RICKETS
• Population at Risk- Infants
Childrens with dark skin pigmentation
Breast feed exclusive post 6 months
• Age of Presentation- commonly b/w 6 months to 3 years

8. Normal Bone Growth
• Normal epiphyseal plate has 4 Zones
1) Resting Zone- cells are sparse, rounded & randomly dispersed
2) Prolifetrative zone- cells regular, flattened & arranged in columns
site of mitotic activity
length growth of epiphyseal plate
3)Maturation Zone- cells become large & more rounded
contain larger amount of glycogen
lower part of this is called ZONE Of HYPERTROPHY
ZONE Of HYPERTROPHY- the lacunae become very large, vascular buds grow in from metaphysis to
enter empty lacunae and bars of cartilage matrix became havily calcified called “ZONE OF
PROVISIONAL CALCIFICATION”
4)Primary spongiosa zone- lower in the metaphysis calcified bars surrounded by osteoblast which
produces osteoid around bars

10. Changes in Growth Plate
• Resting & proliferative zones are normal
• Maturation zones column of cells largely elongated as
irregular tongue of cartilage sometimes extending to
metaphysis ,increased height of cartilagenous plate as well as
width.
• Hypertrophic zones column of bars cannot identified
properly

11. Causes Of Changes
• Normally in hypertrophic zone vascular ingrowth occours from
metaphysis towards tunnels formed by calcified cartilage which
destroys the basilar cells of hypertrophic layer along with intervening
cartilage.
• IN RICKETS- calcified tunnels not formed- vascular in growth does not
occour so basilar layer cannot be destroyed leading to increased
proliferation without destruction.

12. • CUPPING- normally epiphyseal plate growth push against calcified lower zones, so
opposite pressure from both sides leads to push of epiphyseal nucleus farther from
metaphysis along the axis of bone leading to longitudinal growth.
• IN RICKETS- cartilage softened--calcified zone & metaphysis collapse and spread
under applied external force & intrinsic growth force.
• BIOCHEMICAL- resting and proliferative zone are normal with normal DNA
synthesis , zone of maturation is selectively targeted along with zone of
hypertrophy — respiratory paralysis & shift from aerobic to anaerobic & HMP
shunt, I high energy phosphate molecules—+ J RNA, protein , glycogen,
proteoglycan, polysaccharide leading to maturation arrest.But no change in
lysosomal activity.

13. Pathology
• Failure of mineralization of cartilage and osteoid tissue
• Pathology exists at – Zone of Provisional calcification
Decreased longitudinal bone growth
• Osteoblastic activity is normal
Abundant osteoid is formed
Defective mineralization
• Secondary Hyperparathyroidism
Resorption of mineralized bone
• Abnomality in arrangement of bundles of collagern fibres
Soft and misshapen bone

14. HISTOLOGICAL FEATURES
• Thinned cortex, porosity , decreased density
• Irregular haversian system
• Trabecular bone is thin & porous with diminished total no of
trabeculae.
• Trabeculae shows osteoid seams (thin layer of mineralized bone
surrounded by unmineralized osteoid synthesized in preparation of
mineralization but cannot be done due to deficiency). Osteoid seams
are cardinal features but not pathognomic, width & total no of
osteoid seams is a good index of severity of disease.

15. PARADOX OF RICKETS
AS the rickets become more severe and patient become systemically
more sicker, With greater abberation of biochemical abnormality, the
changes in growth plate become less severe or even disappear( if child
survives) bcoz rickets is a disease of growing bones with severe
systemic illness , growth is suppressed due to decreased nutrition
,hypoprotenemia& epiphyseal manifestation of rickets fade away as
they are directly related to rapidity of growth.

16. CLINICAL FEATURES
• Stereotyped can rarely diffrentiate one fom from other, infants &
young children with florid rickets manifest by 6 months of age.
• Failure to thrive
• Apathic , irritable, hypotonic, underweight, anemic, ligamentous
laxity, sweating of face and forehead, hypocalcemic features

17. HEAD
• Craniotabes(soft skull)
• frontal bossing
• Widening Of Suture.
• persistent fontanelae
• Delayed dentition, enamel
hypoplasia
• Caput quadratum/ hot
cross bun skull(cruciate
pattern in skull due to
widened sutures & thining
around sutures)

18. CHEST & ABDOMEN
• RACHITIC ROSARY PIGEON CHEST PROTUBERANT ABDOMEN ATLECTASIS

19. Widening of wrist,knee & ankle due to
physeal over growth

20. Toddlers- Bowed legs Older children-Knock knees Windswept knees
(Genu varum) (Genu valgum)

21. • Rachitic cat back- thoracic khyphosis, lumbar lordosis, scoliosis,
waddling gait
• Rachitic saber shin, Coxa vara
• String Of pearl deformity- enlarged ends of phalanx and metacarpals
with constricted joints
• Hypotonia
• Pathological #- especially greenstick
• Tetany, PEM
• Bone pain or tenderness

22. RADIOGRAPHIC FEATURES OF RICKETS

24. Causes Of Rickets
• 1) VITAMIN D DISORDERS
a)Nutritional
b)Secondary, malabsorption (decrease in 25OH activity)
c)VDDR Type 1 – deficiency of 1 alpha hydroxylase
d)VDDR Type 2 – End organ resistance to 1,25OH vit D3
2) Calcium Deficiency
3)Phosphorus Deficiency

25. • 4) Renal losses
a)Fanconi Syndrome
b)Distal RTA
c)Hypophosphatemic Rickets (PHEX gene mutation)
5) Tumor
a) Soft tissue tumor- hemangiopericytoma
b)Bone tumor- GCT,Fibrous dysplasia, NF, Non ossifying fibroma

27. Normal Biochemical Values
• S.Ca+ = 8.8mg to 10mg/dl
• S.PO4= 3 to 4.5 mg/dl
• S.ALP = 100 to 250 IU/L (Adult)
250 to 700 IU/L (Child)
24hr Ca in urine= <400mg/d
24hr Phpsphorus= 340 to 1000 mg

28. Normal Values of VitD
• Sufficient : >50nmol/L
• Insufficiency:30-50 nmolL
• Deficient :<30nmolL

29. Biochemical Abnormality in Rickets

30. NUTRITIONAL VIT D DEFICIENCY
• Etiology:
• Most common in infancy: Due to poor intake + inadequate cutaneous
synthesis.
-Transplacental transport Of vitamin D, mostly 25-D,provides
vitamin D for 1st 2 months Of life unless there is severe maternal
vitamin D deficiency.
• Breast-fed infants, because Of low vitamin D content of breast milk,
rely on cutaneous synthesis or vitamin supplements.
• Infants who receive formula receive adequate vitamin D, even
without cutaneous Synthesis

31. • Clinical Manifestations:
• >The clinical features are typical of rickets with a significant minority
presenting with Symptoms Of hypocalcemia.
• These children have an increased risk Of pneumonia and muscle
weakness, adding to a delay in motor development

32. SECONDARY VITAMIN D DEFICIENCY
• Inadequate absorption :
• —cholestatic liver disease,
• - defects in bile acid metabolism,
• - cystic fibrosis
• - other causes of pancreatic dysfunction,
• - celiac disease & Crohn disease
• - after intestinal resection

33. VITAMIN D-DEPENDENT RICKETS, TYPE 1
Mutations in the gene encoding renal 1alpha hydroxylase preventing
conversion of 25-D into 1,25-D
• present during the 1st 2 yr Of life
• Classic features Of rickets including symptomatic hypocalcemia.
• They have normal levels of 25-D, but low levels of 1,25-D

34. VITAMIN D-DEPENDENT RICKETS, TYPE 2.
• Autosomal Recessive disorder
• Mutations in gene encoding the vitamin D receptor.
• Prevents a normal physiologic response to 1,25-D.
• Levels of 1,25-D are extremely elevated.
• Less severe disease is associated with a partially
functional vitamin D receptor

35. •Treatment-
• Some patients, especially those without alopecia,
respond to extremely high doses of vitamin D2, 25-D, or 1,25-D.
• Due to partially functional vitamin D receptor,3—6 months trial Of
high-dose vitamin D and oral calcium.

36. CALCIUM DEFICIENCY RICKETS
• Due to calcium chelators like- Phytate, fatty acid,excessive phosphate

37. RICKETS OF PREMATURITY
• premature infants are more prounced .
• Risk factors
hepatobiliary diseases,
total parental nutrition,
diuretic theraphy ,
percussion theraphy .
• Infants having this conditions have chances of pathological fractures
which heals readily as infants gain weight

38. DRUG INDUCED RICKETS
• Phenytoin — hepatic enzyme inducer drug converts calcidiol
into inactive metabolite

39. VITAMIN D RESISTANT RICKETS
• also known as hereditary / familial hypophosphatemic rickets
• inherited as X-Iinked dominant ( mc type of inheritance ) , Autosomal ressesive ,Autosomal dominant.
• X-Iinked hypophosphatemia rickets :
X-Iinked dominant type (mc type)
Gene — PHEX gene ( phosphate regulating gene homologous to endopeptidases on X
chromosome ) location Xp22
Fibroblast growth factor 23
inhibits resorbtion of phosphorus in kidney & inhibits 1 alpha hydroxylase
urinary phosphate & serum phosphate calcotriol

40. Conditions causing RENAL LOSSES of phosphate and calcitriol
due to increased level of FGF23
• X linked hypophosphatemic rickets
• Overproduction of phosphatonin
• Tumor-induced rickets
• McCune-Albright syndrome
• Epidermal nevus
• Fanconi syndrome
• DISTAL RENAL TUBULAR ACIDOSIS.

42. Investigations
BASIC INVESTIGATIONS TO CONFIRM RICKETS
• Serum Ca, P and ALP
• X rays of ends of long bones at knees or wrists

43. Second level investigations
1.Blood urea, creatinine, electrolytes, tubular reabsorption of
phosphate( Trp)
2.Urine analysis for specific gravity, glucose, protein, amino acids,
potassium and calcium.
3.USG
4.LFT, malabsorption.

44. Tertiary level investigations
1.Estimation of vitamin D metabolites to differentiate VDDR
type 1 from type 2
2.Receptor vitamin D interaction — in vitro study to assess
VDDR type 2
3.Bone mineral content
4.Bone densitometry

45. CLASSICAL RADIOLOGICAL CHANGES
• most easily visualized on posteroanterior radiographs of the wrist ,knee ,chest
>Decreased calcification leads to thickening of the growth plate and is
most easily seen at the distal growth plate. ends ofthe radius, ulna, and fibula.
• The edge of the metaphysis loses its sharp border, which is described as fraying.
• In addition, the edge of the metaphysis changes from a convex or flat surface to a
more concave surface. This is termed Cupping.
• Other radiologic features include coarse trabeculation of the diaphysis and
generalized rarefaction

48. PREVENTION
• 400 IU/d (10ug) – from birth to 12 months of age
(independent of their mode of feeding)
• >600 IU/d (15ug)- beyond 12 months of age

49. TREATMENT
• 1) NUTRITIONAL RICKETS-
STOSS REGIMEN - 300,000 to 600,000 IU of vitamin D which is given over 1-5 days orally or IM
• Daily dose of 5000-6000 IU for 8-12 weeks
• 600,000 IU given as a weekly dose of 60,000 IU
• Along with maintenance dose of 400-1000 IU in infants and 600-1000IU in adults and also supplementary
calcium in doses of 50-70mg/kg per day for 6-12 weeks
2) HYPOPHOSPHATEMIC RICKETS- Oral phosphate and vit d supplements
Joule’s solution (dibasic sodium phosphate)
3)VDDR1 – Calcitriol , calcium , phosphate supplements
4)VDDR2-larger doses of Calcitriol , calcium , phosphate supplements

50. EVALUATION OF TREATMENT
• Serum and Urinary Calcium measurement:
It is the most efficacious method of monitor T/t resolution of VitD
deficiency
Normal 24hr urinary ca excretion= 100-250mg
• When serum ALP comes normal
• X-ray shows signs of healing

51. Evaluation Hazards
• Serum Ca >11mg/dl
• Urinary Ca excretion >250mg/24hr
Increase chances of : soft tissue calcification
Nephrocalcinosis

52. TOXICITY
• Hypervitaminosis D -causes hypercalcemia, which manifest as:
-Nausea & vomiting
-Excessive thirst & polyuria
-Severe itching
-Joint & muscle pains
-Disorientation & coma.

53. Vitamin D Toxicity
1) Calcification of soft tissue : Lungs, Heart , Blood vessels
Hardening of arteries (calcification)
2)Hypercalcemia: Normal is-10mg/dl
Excess blood calcium leads to kidney stone
3)Lack of appetite
4)Excessive thrist & urination

54. ORTHOPAEDIC MANAGEMENT
• The orthotic management of vitamin D—resistant rickets has not
been efficacious.
• Indications such as-pain,difficulty in walking lead to angular
deformity corrections.
• Most common deformity seen is anterolateral bowing of femur
combined with Tibia vara.
• Multilevel osteotomy is generally required to satisfactorily correct the
mechanical axis of the limb.

55. • Surgical correction/fixation varies.
• External fixation allows fine tuning of the alignment postoperatively,
when the patient is able to stand.
• Some advise intramedullary fixation or plating.
• Regardless of the type of fixation used, careful preoperative planning
of the surgical treatment of these multiplanar deformities is crucial to
restoring alignment.

56. • Recurrent deformity is a common sequela of osteotomies in patients
with hypophosphatemic rickets.
• Younger patients have a higher risk of recurrence. So,milder
deformities should not be corrected in early childhood.
• Some children have severe varus at a very young age that leads to
thrust during gait.
• When gait is compromised or symptoms or pain is present,
osteotomy should be performed and the alignment monitored for
recurrent deformity

57. • Spinal deformity may be seen in patients with hypophosphatemic
rickets.
• Kyphoscoliosis, Arnold-Chiari malformations,and spinal stenosis have
all been described in patients with vitamin D—resistant rickets.
• Adults with hypophosphatemic rickets are prone to the development
of arthritis.

63. OSTEOMALACIA

64. INTRODUCTION
• Osteomalacia is the softening of the bones caused by defective bone
mineralization secondary to inadequate levels of available phosphate
and Calcium.
• Or because of overactive resorption of calcium from the bone which
can be caused by hyperparathyroidism (which causes hypercalcemia).
• Osteomalacia in children is known as rickets, and because of this, use
of the term "osteomalacia" is often restricted to the milder, adult form
of the disease.
• Signs and symptoms can include diffuse body pains, muscle
weakness, and fragility of the bones.

66. CAUSES
• Osteomalacia is a generalized bone condition in which there is
inadequate mineralization of the bone.
• Many of the effects of the disease overlap with the more common
osteoporosis, but the two diseases are significantly different.
• There are two main causes of osteomalacia:
1.insufficient calcium absorption from the intestine because of lack of
dietary calcium or a deficiency of, or resistance to, the action of vitamin
D; and
2.phosphate deficiency caused by increased renal losses.

67. • dietary deficiency of vitamin D + lack of solar irradiation
• deficiency of metabolism of vitamin D
-chronic renal disease (most common cause)
-1-hydroxylation of 25-vitamin D
-a renal tubular disorder (vitamin D resistant rickets): high level
of phosphorus in urine
-linked hypophosphatemia
• chronic liver disease:
-a hepatocellular: 25-hydroxylation vitamin D
-biliary: abnormal gut absorption
-Cl administration of phenobarbital (alternate liver pathway)

68. • decreased absorption of vitamin D
-malabsorption syndromes such as Crohn’s
-partial gastrectomy (self-restriction of fatty foods)
• decreased deposition of calcium in bone
-diphosphonates
• Other causes
-Tumour induced osteomalacia
-Cadmium poisoning
-Itai-itai disease

69. SIGNS AND SYMPTOMS
• Diffuse joint and bone pain (especially of spine, pelvis, and legs)
• Muscle weakness
• Difficulty walking, often with waddling gait
• Hypocalcemia (positive Chvostek sign)
• Compressed vertebrae and diminished stature
• Pelvic flattening
• Weak, soft bones
• Easy fracturing
• Bending of bone

71. SIGNS AND SYMPTOMS
• Osteomalacia in adults starts insidiously as aches and pains in the
lumbar (lower back) region and thighs before spreading to the arms
and ribs.
• The pain is symmetrical, non-radiating and accompanied by sensitivity
in the involved bones.
• Proximal muscles are weak, and there is difficulty in climbing up stairs
and getting up from a squatting position.
• As a result of demineralization, the bones become less rigid.

72. • Physical signs include deformities like triradiate pelvis and lordosis.
• The patient has a typical "waddling" gait.
• However, these physical signs may derive from a previous
osteomalacial state, since bones do not regain their original shape after
they become deformed.

73. LAB FINDINGS
• Biochemical features are similar to those of rickets.
• The major factor is an abnormally low vitamin D concentration in blood
serum.
• Major typical biochemical findings include:
-Low serum and urinary calcium
-Low serum phosphate, except in cases of renal
osteodystrophy
-Elevated serum ALP (due to an increase in compensatory
osteoblast activity)
-Elevated parathyroid hormone (due to low calcium)
• Furthermore, a technetium bone scan will show increased activity (also
due to increased osteoblasts)

74. RADIOLOGY
• diffuse demineralization:osteoporotic-like pattern may show a
characteristic smudgy "erased" "fuzzy" type of demineralization
• coarsened trabeculae
• insufficiency fractures
• Pseudofractures (looser's zone)
• articular manifestations (uncommon)
-rheumatoid arthritis-like picture
-osteogenic synovitis
-ankylosing spondylitis-like picture

75. Looser's Zone
( Milkman's Pseudofractures )
Pathognomonic
• Looser zones are radiolucent lines that are often
penetrating through the cortex perpendicular to the
shaft and are most often seen in the medial cortices
of the femurs and in the pelvis and ribs, neck of
scapula.
• Caused by rapid resorption and slow mineralisation

77. Biconcave Vertebrae Compression #

78. Trefoil Pelvis
(Lateral indentation of Acetabulum)

79. TREATMENT
• Nutritional osteomalacia responds well to administration of 10,000 IU
weekly of vitamin D for four to six weeks.
• Osteomalacia due to malabsorption may require treatment by
injection or daily oral dosing of significant amounts of vitamin D.
• Calcitriol supplement for CKD

80. Treatment
1. Exercise :Exercise helps to strengthen the bones, especially weight- bearing exercise
(anything that involves walking or running). However, you should avoid intensive
exercise while any fractures or cracks In the bones are healing.
2. Sunlight: Where possible, going outside and exposing your arms and face to sunlight to
get vitD
• just 15 minutes a day is generally enough.
• Don't allow your skin to go red and take care not to burn, partlcularly in strong sunshine
and if you have fair or sensitive skin.
3.Diet and nutrition :
• A diet that includes vitamin D and calcium can help, but this
won't prevent the condition by itself
• Nevertheless, a diet that provides vitamin D is especially important if you don't get
enough exposure to sunlight.

81. THANK YOU