Rickets & Osteomalacia

Suresh Dhakar
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 & deformity

Osteomalacia- occur in adult

-softening of bone
Rickets & Osteomalacia
Etiology
Deficiency (vit – D or phosphate)
 Deficient intake in diet
 Chelators in diet

 GI disease

Renal causes
 Vit – D resistent
 Vit –D dependent( type – I & II)

 Renal tubular acidosis

 CRF

Other -Chronic use of anticonvulsant drugs

-fibrous dysplasia and neurofibromatosis
-fibrous or connective tissue tumor
Rickets
 Disease of infancy &childhood
Dietary deficiency & GI disease are the common causes
Rare before 6 months
 Commonly develop b/w 6 mth - 3yr
Rickets
Clinical feature
General
 Failure to thrive
 Apathetic , listless, irritable
 Shorter, lower body weight and anemic
 Excessive sweating particularly at hand & face
Rickets
Clinical feature
Head
craniotabes(soft skull)
frontal bossing
Widening of suture,
persistent fontanelae
Delayed dentition, caries
Rickets
Clinical feature
Chest
Rachitic rosary

Harrison groove
Pigeon chest
Respiratory infection and
atelectasis
Rickets
Characteristic feature
Widening of wrist, knee and ankle due to physeal over
growth
Rickets
Characteristic feature

 Abdomen
- prominent

 muscle weakness (floppy baby, delayed walking)

 Pelvis - narrow inlet
Rickets
Characteristic feature
Deformity
Toddlers: Bowed legs
(genu verum)
Rickets
Characteristic feature
Deformity
 Older children: Knock-knees
(genu velgum)
Rickets
Characteristic feature
Deformity
 windswept knees

 Coxa Vera
 String of pearls deformity
Rickets
Characteristic feature
Thoracic kyphosis (rachitic cat – back)
increased tendency for fracture, especially green stick #
Growth disturbance
Bone pain or tenderness
Less common tetany, laryngeal, stridor and convulsion
Sign of PEM
Rickets
Clinical evaluation
Dietary history
Cutaneous synthesis
Maternal risk factors
Drugs
GI disease
Renal disease
Rickets
Clinical evaluation
Genetic
 Family history aid diagnosis
 50-70 % children of vit-D dependent-II rickets have alopecia
Initial lab. test
 Serum Ca, Ph3, alkaline phosphatase, PTH , 25 Vit-D, 1, 25 Vit-D,
creatinine, electrolite
 Urine- glucose, amino acid
-24 hr urinary Ca
Rickets
Vit-D deficiency vit-D resistant
Acquired Inherited
Muscular weakness No muscular weakness
Normal growth rate Growth seldom become N
Serum Ph3 comes N Serum Ph3 never comes
with t/t normal
Rickets
Radiographic feature
Rickets
Radiographic feature
Rickets
Radiographic feature
Rickets
Radiographic feature
Rickets
Diagnosis
History & physical examination finding
Radiographic abnormality
Special etiology confirmed with lab. test
Rickets
Biochemical finding - - approach of pt
Most specific test for vit–D deficiency is 25 vit–D
PTH is under -ve feedback of Calcium
Decrease serum Ca = increase PTH
Alkaline phosphatase increase in all cases of rickets and
osteomalacia
Rickets
25 Vit-D

Low N/N to high

-Vit-deficiency
Ca-low -Absorption defect
-Renal dystrophy

serum phosphate

Low high
Diarrhea, oily Renal dystrophy
stool, PEM

+ve -ve
Absorption defect vit-deficiency
Rickets
25 Vit-D

Low N/N to high

-Vit-deficiency -phosphate deficiency -vit-D dependent I & II
-Absorption defect - vit-D resistant -RTA
-Renal dystrophy

PTH

Normal High
Serum Ca – N
Serum Ph3-low Vit-D dependent I & II
Resorpt.of Ph3 Renal t. acidosis

High Low

phosphate
deficiency Vit-D resistant
Rickets 25 Vit-D
Low N/N to high
-phosphate deficiency -vit-D dependent I & II
-Vit-deficiency
- vit-D resistant -RTA
-Absorption defect
-Renal dystrophy
PTH

-phosphate High
deficiency
-Vit-D resistant urinary Ca
Low High

1, 25 Vit-D
Renal t. acidosis
Low N-High

Vit-D dependent I Vit-D dependent II

Rickets
Biochemical finding
Category Serum Serum Serum PTH 25-HC 1, 25- Tubular Urinary
Calcium Ph3 Alkaline DHC Reabsrp. calcium
Ph3ase Of Ph3

Vit-D deficiency Low to Low High High Low Low Low low
normal
Ph3 deficiency normal Low High normal normal normal High High

Gastrointestinal Low Low High High Low to Low to Low low

Normal Normal

Vit- D resistsnt Normal Low High Normal Normal Normal Low Normal
phosphoturia
Type-I dependent Low Low High High Normal Low Low low

Type –II vit-D low low High High N- High N- High Low low
dependent
Rickets
Biochemical finding
category Serum Serum Serum PTH 25-HC 1, 25 Tubular Urinary
calcium Ph3 Alkaline DHC Reabsrp. calcium
Ph3ase Of Ph3

Renal tubular acidosis Low Low High High N –High N- High Low high
Rickets
Differential diagnosis
1. Hypophosphatamia
 Autosomal recessive
 X-ray feature same
 Inborn Error In Alkaline Phosphatase
(Liver, Bone, Kidney)
Test
 low serum alkaline phosphatase activity
 Large quantities of phosphoethanolamine are found in the
urine.
Rickets
Differential diagnosis
2. Metaphyseal dysostoses
 Bowing of the legs, short stature, and a waddling gait.
 Absence of abnormalities of test
3. Blount's syndrome
 Osteochondrosis of the tibia resulting in bowing of the legs
 May be related to obesity.
 Absence of abnormalities of test
Osteomalacia

Clinical feature
 Insidious course
 Pt may present with bone pain, back ache and bone
tenderness
 proximal muscle weakness
 Fracture may be first sing of Osteomalacia
 Vertebral collapse, kyphosis or knock knee perhaps due to
adolescent rickets- may increase in later life.
Osteomalacia

Clinical feature
Long standing case sign of secondary hyperparathyroidism
 Depression
 Polyuria
 Increased thirst
 Constipation
 Nephrolithiasis
 ?Peptic Ulcer Disease
Osteomalacia
X- ray
 Looser zone
Osteomalacia
X- ray -Looser zone
Osteomalacia

X- ray

 lateral indentation of the

acetabulam (trefoil pelvis)

 Biconcave vertebrae
Osteomalacia
Long standing case sign of secondary
hyperparathyroidism
 Osteomalacia
Long standing of Osteomalacia

Pathological #

Cortical erosion

Brown tumor
Osteomalacia
Deferential diagnosis

1. Osteomalacia osteoporosis
 Unwell well
 Generalized chronic ache pain after #
 Muscles weakness muscle normal
 Looser’s zone absent
 Ph3 decrease normal
 Alk. Ph3ase increase normal
Osteomalacia
Deferential diagnosis
2. Primary Hyperparathyroidism
 Hypercalcaemia
 hypophosphaetemia
 Raised PTH & alkaline phosphatase
3. Myeloma
 Anemia
 Increase ESR
 Blood and urine electrophoresis raised of single Ig
 Bence jones protein
Rickets & Osteomalacia
Treatment
Depending on etiology, severity and metabolic
abnormality
In general the combination of Vit-D, Ca and phosphate
Orthopedic measure require in very less no. of cases

1 mg of vit-D = 40,000 IU
1 IU = 0.025 microgram
Rickets & Osteomalacia
Target of therapy

low -N = Ca
N- = phosphate Over dosing side effect
high - N = alkaline of Vit – D prevented
phosphatase
Rickets & Osteomalacia
Treatment
1. Vit-D deficiency state
 Vit –D 1,000 – 10,000 I.U./day 4- 6 wk Followed by
400 IU / day
Adherence is poor (stoss therapy)
Vit –D 300,000-600,000 IU
Im /Orally in a day (2-4dose)
 Calcium --- 1g/ day
 General nutrition , sunlight ?
Rickets & Osteomalacia
Treatment
2. Absorption defect
 Vit- D 1,500 – 25,000 IU / day
 Calcium 1 g/ day
 Treatment of underling pathology; where appropriat, low
fat or gluten free diet
Rickets & Osteomalacia
Treatment
3. Vit – D resistant
 Vit – D 20,000- 60,000 IU/day
 Or dihydrotachysterol (dose 1/3 of vit D)
 Neutral phosphate-1.5- 6 g/ day (4-5 dose)
 Calcium – 1 g / day
Rickets & Osteomalacia
Treatment
4. Vit – Dependent type – I

 1, 25 Vit – D 250 IU – 800 IU /day

 Calcium 1 g/day
Rickets & Osteomalacia
Treatment
5. Vit – Dependent type – II
Respond with high dose of
 i/v Ca with oral
1, 25 Vit – D supplement
1,000- 20,000 IU /day for 3-6 mth
 Calcium - - 1-3 g / day
Rickets & Osteomalacia
Treatment
6. Renal tubular
 Vit- D 1,000 – 4,000 IU/ day
 Alkalizing solution; K supplement
Evaluation of treatment
Serum and urinary Ca measurement
 Most efficacious method to monitor t/t resolution of Vit –D deficiency
 Normal 24 hr urinary Ca excretion = 100 – 250 mg

< problem in t/t regimen or absorption

When serum alkaline Ph3ase Inorganic phosphate

comes normal
 X- ray show sign of healing
Evaluation hazards
Serum Ca > 11mg/dl
Urinary Ca excretion > 250 mg / 24 hr

increase chance of
soft tissue calcification & nephrocalcinosis
Orthopedic measurement
Deficiency rickets
If t/t given earlier, deformity correct spontaneously
Orthopedic measurement
Long standing case and Vit-D resistant rickets
Mild deformity----------brace
(Mermaid splint for knock knee)

If deformity is mark----osteotomy