RICKETS AND OSTEOMALACIA
RICKETS AND OSTEOMALACIA
• Inadequate bone
mineralization.
• Excessive
unmineralized
osteoid.
• Osteomalacia adult
version of rickets. Different expression
• In rickets epiphyseal of same disease
involvement.
Pathophysiology
• Deficiency of vit-D
• Hypocalcemia
• PTH secretion
• Plasma Ca
• Plasma P
• Bone resorption
• Bone formation for
compensation, lack of
Ca&P
• Rickets/osteomalacia
Clinical feature of Rickets and
Osteomalacia
• Failure to thrive, listless,
apathic, irritable,
hypotonia, muscular
weakness etc.
• Delayed milestone.
• Pallid or pasty skin.
• Ligamentous laxity, loose
joint structure.
• Tetany, larinryngeal stridor,
convulsion.
Cont..
• Craniotabes
(softening bones)
• Frontal bossing.
• irregular pits and
grooves of teeth.
• Ricketic rosary,
Harrison’s sulcus,
pigeon chest.
• Rachitic pot belly
abdomen, thoracic
kyphosis (rachitic cat
back).
Cont..
• Skeletal deformity:
• Bow legs
• Knock knee
• Genu varum
• Coxa vara
• Thickening around
wrist, ankle
• Pathological
fractures
X-rays: In rickets,
• Delayed appearance of
epiphyses.
• Thickening & widening
of growth plate.
• Cupping and splaying of
metaphysis.
• Rarefaction & bowing of
diaphysis.
• Bone deformities – Genu
varum, genu valgum,
coxavara.
X-rays: In osteomalacia,
• Milkman's pseudo
fracture(loosers zone).
• Biconcave vertebrae (from
disc pressure).
• Lateral indentation of
acetabulum(trefoil pelvis
or champagne glass
pelvis).
• Spontaneous fracture of
ribs, pubic ramii, femoral
neck etc.
• Features of secondary
hyperparathyroidism(
subperiosteal resorption of
bone, brown tumors)
Biochemistry
• Decreased level of serum calcium and
phosphate.
• Increased serum alkaline phosphatase.
• Diminished urinary excretion of
calcium.
• Decreased serum level of 25-OH
vitamin D (in vitamin D deficiency
rickets).
Bone biopsy:
• Osteoid seams are
wider and
extensive.
• Defective
mineralization
Osteomalacia and osteoporosis
osteomalacia osteoporosis
unwell well
Generalized chronic ache Pain only after fracture
Muscle weak Muscle normal
Loosers zone No Loosers zone
Alkaline phosphatase Normal
increased
Serum phosphorus Normal
decreased
Ca X P < 2.4mmol/l >2.4 mmol/l
Treatment
• Vitamin –D deficiency rickets:
• Correction of cause of vitamin D deficiency:
adequate dietary supply, sun light exposure.
• 15000μg or 600,000 IU Vit D3 orally or IM
with calcium supplement.
• If healing occurs continue with 800 IU-1200
IU of Vit D3/day however elderly people
require 2000 IU/day vitamin D3.
• In Intestinal malabsorption: 50,000-100,000
IU vit D3/day with calcium supplements.
Renal tubular rickets & osteomalacia
• 3 pathophysiological mechanisms:
1.increase clearance of PO4 by the PCT
(hypophosphatemic rickets).
2.A failure in the production of H⁺ and its
substitution for fixed base in the DCT, (renal
tubular acidosis).
3.A failure in the conversion of 25-hydroxy
vitamin D to1, 25-dihydroxy vitamin D.
4.Combined lesion of both tubules which causes
the Fanconi group of rickets and osteomalacia.
Unusual Forms of Rickets and
Osteomalacia:
• Rickets and Osteomalacia Associated with
Benign Bone and Soft Tissue Tumors:
• hyposphatemic VDR Osteomalacia.
• Hemangioma of bone, giant-cell tumor,
reparative giant-cell granuloma, NOF(non
ossifiying fibroma) Cavernous
Hemangioma of the thigh, and “ossifying
mesenchymal tumor "of the larynx.
• Tertiary hyperparathyroidism.
• Ectopic vit-D antagonist secretion.
Rickets and Osteomalacia Associated
with Anticonvulsant Therapy:
• 15% epileptic patient with long term anti epileptic
drugs( hydantoin, Phenobarbital).
• stimulation of hepatic microsomal P-450
enzymatic activity.
• Usually respond well to vit D
Vitamin-D dependent rickets and
osteomalacia
Type-I(pseudo vit-D deficient) Type-2 vit-D dependent
•Autosomal recessive •Autosomal recessive.
•Deficiency of 1ᾳ •Defect in vit-D receptors
hydroxylase. in target cells.
•Severe ricketic syndrome. •Adults and children
•Secondary affected.
hyperparathyroidism. •No response to vit-D.
•Multiple fractures, •Parenteral calcium is
Myopathy. needed.
•Life time treatment with
1-OH vit-D.
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