3. Introduction
•Osteomalacic diseases: These are diseases
characterized by an increase in the ratio of the
organic fraction to the mineralized fraction, i.e. the
available organic matter is undermineralized.
•Rickets: Lack of adequate mineralization of
growing bones. It occurs before closure of growth
plates.
•Osteomalacia: Lack of adequate mineralization of
trabecular bone.
6. Types of Rickets (1/2)
Classification I
• Fetal rickets-osteomalacic mothers.
• Infantile rickets-6mths to 3 yrs ,most common
form, nutritional.
• Late rickets or rachitis tarda-late onset , familial,
vitamin D resistant.
7. Types of Rickets (2/2)
Classification II
Type I Rickets: Dietary deficiency or defects in the
metabolism of vitamin D.
Type II Rickets: Low serum phosphorus due to
dietary deficiency or defective renal tubular
resorption
8. Clinical Features (1/5)
•A – Abdomen protuberant due to muscular
hypotonia
•B – Bowing of bones (on weight bearing)
10. Clinical Features (3/5)
• D – Diaphragm pull - Harrisons groove (lateral
indentation of chest due to pull of diaphragm on
ribs)/Double malleolus d/t metaphyseal
hyperplasia
11. Clinical Features (4/5)
• E – Enamel defect of teeth and delayed dentition
• F – Forward sternum - Pigeon chest (Pectus
carinatum)
• G – Growth plate - widening
12. Clinical Features (5/5)
• H – Hypocalcemia causing Hyper PtH
• I – Irritability
• J – Joint deformities - Genu valgum/genu varum/coxa
vara
• K – Kyphosis
• L – Loosers zones
• M – Milestone delayed Muscle weakness
13. Q. In which condition is Windswept deformity seen?
some books say RA, others say Rickets? American
authors
have published RA, British have published
Rickets...which
one to pick sir?
Ans. Both diseases have wind swept deformity
Rickets at knees and at hand in RA but classically
it has been named for rickets. It is called as tackle
deformity also.
16. Diagnosis:
• Is based on the combination of a history of poor
vitamin D intake and risk factors for decreased
cutaneous synthesis, radiographic changes
consistent with rickets, and typical laboratory
findings .
17. Treatment: Medical (1/4)
1.Nutritional rickets: Two strategies for
administration of vitamin D.
Stoss therapy, 300,000–600,000 I.U. of vitamin D
are administered orally or intramuscularly.
The alternative is daily high dose vitamin D, 2000–
5000 I.U./day over 4–6 week.
Followed by 400 I.U. Vit D/Day and supplements of
calcium for 2–4 months
18. Treatment: Medical (2/4)
2. Hypophosphatemic Rickets
Oral phosphate and Vit D supplements
Joule’s Solution—Dibasic sodium phosphate,
phosphoric acid is given in hypophosphatemic
Rickets.
3. VDDR I: Calcitriol, calcium, phosphate
supplements
4. VDDR II: Treatment not satisfactory large doses
19. Treatment: Medical (3/4)
5. Renal tubular acidosis
Bicarbonate supplements (Shohl’s solution—
Citric acid, sodium citrate) and phosphate
supplementation.
6. CRF
Calcitriol, calcium supplements and phosphate
restriction.
20. Treatment: Orthopedic (4/4)
Conservative Methods: Designed splints
(mermaid splints) or orthopedic shoes for
correction of knee deformities
Operative methods: Corrective Osteotomies, after
6 months of starting the medical treatment
22. Clinical features:
Early stages: Non-specific
Bone pains: Backache to diffuse pains
Muscle weakness: Waddling gait, Carpopedal
spasm and facial twitching
Spontaneous fractures: usually in spine
23. Investigations
Radiological Examination: Looser’s zone
(pseudo-fractures) , Triradiate pelvis and
Protrusio-acetabuli
Bone biopsy: from iliac crest confirms the
diagnosis (Excessive uncalcified osteoid)
Serum: Low serum calcium and phosphates
level, and high ALP level
26. Treatment of Osteomalacia
Identify the cause.
Vit. D 50000 IU / week X 3-12 weeks,
Followed by maintenance 400-800IU /day
Along with elemental Calcium 1.5 to 2 g / day
28. Thank You!
• To feel Low or to doubt in yourself is to commit mental
suicide which is more catastrophic than physical suicide
because mental suicide is chronic incident that melts you
daily on your voyage!
–GK Yadav
Editor's Notes
There are four types of metabolic bone diseases.
• Osteopenic diseases: These diseases are characterized
by a generalized decrease in bone mass (i.e. loss of
bone matrix), though whatever bone is there, is normally
mineralized (e.g. osteoporosis).
• Osteosclerotic diseases: There are diseases characterized
by an increase in bone mass (e.g. fluorosis).
• Osteomalacic diseases: These are diseases characterized
by an increase in the ratio of the organic fraction to the
mineralized fraction, i.e. the available organic matter is
undemineralized.
• Mixed diseases: These are diseases that are a combination
of osteopenia and osteomalacia (e.g. hyperparathyroidism).
DMP1: Dentin Matrix Protein 1 PHEX: phosphate-regulating gene with homologies to endopeptidases on the X chromosome
HYPOPHOSPHATASIA—DIFFERENT FROM
HYPOPHOSPHATEMIA!
• Genetic error in synthesis of ALP
• Normal calcium and phosphate levels
• Low ALP
• Autososmal recessive
• Phosphoethanolamine
in urine/serum
• Changes early in life
• Delayed dentition
• Genu valgum/varum
• Mortality 50–70%
• Treatment is supportive
A – Abdomen protuberant
B – Bowing of bones (on weight bearing)
C – Costochondral Junction prominent - (Rosary), Craniotabes
(open fontanelles)
D – Diaphragm pull - Harrisons groove (lateral indentation of
chest due to pull of diaphragm on ribs)/Double malleolus
E – Enamel defect of teeth and delayed dentition
F – Forward sternum - Pigeon chest (Pectus carinatum)
G – Growth plate - widening
H – Hypocalcemia causing Hyper PtH
I – Irritability
J – Joint deformities - Genu valgum/genu varum/coxa vara
K – Kyphosis
L – Loosers zones
M – Milestone delayed Muscle weakness
R – Rickets
A – Abdomen protuberant
B – Bowing of bones (on weight bearing)
C – Costochondral Junction prominent - (Rosary), Craniotabes
(open fontanelles)
D – Diaphragm pull - Harrisons groove (lateral indentation of
chest due to pull of diaphragm on ribs)/Double malleolus
E – Enamel defect of teeth and delayed dentition
F – Forward sternum - Pigeon chest (Pectus carinatum)
G – Growth plate - widening
H – Hypocalcemia causing Hyper PtH
I – Irritability
J – Joint deformities - Genu valgum/genu varum/coxa vara
K – Kyphosis
L – Loosers zones
M – Milestone delayed Muscle weakness
R – Rickets
A – Abdomen protuberant
B – Bowing of bones (on weight bearing)
C – Costochondral Junction prominent - (Rosary), Craniotabes
(open fontanelles)
D – Diaphragm pull - Harrisons groove (lateral indentation of
chest due to pull of diaphragm on ribs)/Double malleolus
E – Enamel defect of teeth and delayed dentition
F – Forward sternum - Pigeon chest (Pectus carinatum)
G – Growth plate - widening
H – Hypocalcemia causing Hyper PtH
I – Irritability
J – Joint deformities - Genu valgum/genu varum/coxa vara
K – Kyphosis
L – Loosers zones
M – Milestone delayed Muscle weakness
R – Rickets
A – Abdomen protuberant
B – Bowing of bones (on weight bearing)
C – Costochondral Junction prominent - (Rosary), Craniotabes
(open fontanelles)
D – Diaphragm pull - Harrisons groove (lateral indentation of
chest due to pull of diaphragm on ribs)/Double malleolus
E – Enamel defect of teeth and delayed dentition
F – Forward sternum - Pigeon chest (Pectus carinatum)
G – Growth plate - widening
H – Hypocalcemia causing Hyper PtH
I – Irritability
J – Joint deformities - Genu valgum/genu varum/coxa vara
K – Kyphosis
L – Loosers zones
M – Milestone delayed Muscle weakness
R – Rickets
A – Abdomen protuberant
B – Bowing of bones (on weight bearing)
C – Costochondral Junction prominent - (Rosary), Craniotabes
(open fontanelles)
D – Diaphragm pull - Harrisons groove (lateral indentation of
chest due to pull of diaphragm on ribs)/Double malleolus
E – Enamel defect of teeth and delayed dentition
F – Forward sternum - Pigeon chest (Pectus carinatum)
G – Growth plate - widening
H – Hypocalcemia causing Hyper PtH
I – Irritability
J – Joint deformities - Genu valgum/genu varum/coxa vara
K – Kyphosis
L – Loosers zones
M – Milestone delayed Muscle weakness
R – Rickets
Urinalysis is useful for detecting the glycosuria and aminoaciduria (positive dipstick for protein) seen with Fanconi syndrome.
Evaluation of urinary excretion of calcium (24 hr collection for calcium or calcium-creatinine ratio) is helpful if hereditary hypophosphatemic rickets with hypercalciuria or Fanconi syndrome is suspected.
Direct measurement of other fat-soluble vitamins (A, E, and K) or indirect assessment of deficiency (prothrombin time for vitamin K deficiency) is appropriate if malabsorption is a consideration.
Bone Biopsy: Osteoid seams --wider and extensive.
Tetracycline labelling shows mineralisation defective
1. Nutritional rickets
• Two strategies for administration of vitamin D. Stoss
therapy, 300,000–600,000 I.U. of vitamin D are
administered orally or intramuscularly. The alternative is
daily high dose vitamin D, 2000–5000 I.U./day over 4–6
week. Followed by 400 I.U. Vit D/Day and supplements
of calcium for 2–4 months
2. Hypophosphatemic Rickets
• Oral phosphate and Vit D supplements
• Joule’s Solution—Dibasic sodium phosphate, phosphoric
acid is given in hypophosphatemic Rickets.
3. VDDR I
• Calcitriol, calcium, phosphate supplements
4. VDDR II
• Treatment not satisfactory large doses of calcitriol and
calcium, phosphate supplements.
5. Renal tubular acidosis
• Bicarbonate supplements (Shohl’s solution—Citric acid,
sodium citrate) and phosphate supplementation.
6. CRF
• Calcitriol, calcium supplements and phosphate restriction.
Protrusio acetabular (acetabulum protrudes into pelvis due to bone softening
when bilateral called as Otto Pelvis),
What is the deformity?
B/L Genu Varum
3 D/Ds of bowing of legs?
Physiological
Rickets
Blount’s disease
What is the commonest inheritance pattern in hypophosphatemic rickets?
X-linked dominant
Other features of X-Linked Hypophosphatemic Rickets?
Short Stature
Frequent Tooth abscesses
How will you treat?
Oral Phosphorus + Calcitriol