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
