Post on 27-May-2015
description
Rickets & Osteomalacia
Hamad Emad Dhuhayr
CONTENTS
1.SOEPEL
2.DEFINITION
3.EPIDEMIOLOGY
4.BASIC BACKGROUND
5.AETIOLOGY
6.RISK FACTORS
7.CLINICAL MANIFESTATIONS
8.INVESTIGATION
9.MANAGEMENT
10.REFERENCES
SUBJECT:
• S , a four year old girl is brought to the primary health centre for not being to walk properly. On examination, there are skeletal deformities of both upper and lower limbs with marked bowing General examination shows pallor, otherwise there are no other signs. The abdomen is distended, otherwise systemic examination is normal.
SOEPEL
OBJECTIVE:
taking history, physical examination ( musculoskeletal and neurological )
EVALUATION (DD):
Ricket
Hypophosphatamia
Metaphyseal dysostoses
Blount's syndrome
PLAN: History, physical examination, plain X-ray
ELABORATION: vit D
SOEPEL
LEARNING GOALS:
Rickets and Osteomalacia
SOEPEL
Normal Development
• calcium/ PO4
• Vit D
• PTH
• calcitonin
Bones…. What do they need to be strong?
VIT D LEVEL IN SERUM -
• 25 (OH) D3 level ng/ml
DEFICIENT < 10
INSUFFICIENT 10 - 20
OPTIMAL 20 - 60
HIGH 60 - 90
TOXIC >90
PARATHYROID HORMONE
• Stimulus for its secretion : fall in serum Ca.
• PTH promotes bone resorption process and is adversely affected by calcitonin.
• PTH also stimulates the excretion of phosphates by the kidneys; this inhibition of phosphate resorption
in turn enables calcium resorption.
• In GIT - indirectly increases calcium absorption by increasing the synthesis of active vit D 3 by
stimulating alpha hydroxylase
CALCITONIN
• It is produced by para follicular c cells of thyroid.
• It is a calcium lowering hormone in serum by inhibiting bone resorption by
decreasing the no & activity of osteoclasts .
• So calcitonin acts counter to PTH. Calcitonin inhibits bone resorption thus causing
serum calcium levels to fall.
Metabolic bone diSeases
Metabolic bone diseases include:
•Rickets
•Osteomalacia
•osteoporosis
Rickets• Disease of growing bones of children(in it
epiphyseal plate not closed )in which defective mineralization occurs in both bone and cartilage of epiphyseal growth plate.
Osteomalacia• Disorder of mature bones in adult (after
epiphyseal plate closure )in which mineralization of new osteoid bone is inadequate or delayed
Types of Rickets• (1)Vitamin D deficient rickets: there is decrease in vitamin D inside body.
• (2)Vitamin D dependent rickets: there is defect in the process of vitamen D activation.
• (3)Vit D resistant rickets: either
-Hypophosphatemic rickets
• - End organ resistance to 1,25 Dihydroxy Vit D3
causes of rickets :
• 1- Nutritional deficiency: commonest cause in the developing countries also Excess of phytate in diet which form insoluble compounds with calcium so prevent its absorption (chapati flour)
• 2-Malabsorption as in Celiac disease,Pancreatic insufficiency
• 3-Hepato-biliary disease
• Biliary Artesia
• Cirrhosis
• neonatal hepatitis
• 4-Drugs
• Anti-convulsants
• Phenobartbitone
• Phenytoin
5-Renal causes :
-Renal osteodystrophy
- Renal tubular acidosis.
pathogenesis ofVitamin D deficient rickets
• The predominant cause of rickets is a deficiency in vitamin D, which is required for normal calcium absorption from the gut. Malabsorption leads to low levels of calcium in the blood. This not only prevents proper bone growth, but can also lead to calcium being released form the bones to increase its blood level.
Hypophosphatemic rickets
• Nutritional phosphate deficiency
• Prematurity
• Decreased intestinal absorption of phosphate• Ingestion of phosphate binders (aluminum hydroxide)
• Renal phosphate wasting
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
RicketsClinical feature
Chest
• Rachitic rosary
• Harrison groove
• Pigeon chest
• Respiratory infection and
atelectasis
RicketsCharacteristic feature
• Widening of wrist, knee and ankle due to physeal over growth
RicketsCharacteristic feature
Abdomen
- prominent
muscle weakness (floppy baby, delayed walking)
Pelvis - narrow inlet
Rickets
Characteristic featureDeformity
• Toddlers: Bowed legs
(genu verum)
Rickets
Characteristic featureDeformity
• Older children: Knock-knees
(genu velgum)
Rickets
Characteristic featureDeformity
• 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
RicketsRadiographic feature
RicketsRadiographic feature
Rickets
Radiographic feature
Rickets
Radiographic feature
Rickets
Diagnosis
• History & physical examination finding
• Radiographic abnormality
• Special etiology confirmed with lab. test
Diagnosis of rickets• A-Clinical features of rickets:
(1)Skeletal manifestations
(2) extraskeletal manifestations
• B-investigations
(1) Skeletal manifestations• The earliest sign of rickets in infant is craniotabes (abnormal softness of skull)
• Delayed closure of anterior fontanel
• Frontal and parietal bossing :Rounded prominence of the frontal and parietal bones in an infant’s cranial vault
• Delayed eruption of primary teeth
• Enamel defects and caries teeth.
• Rachitic rosary
• Swelling of the costo-chondral junction
• Harrison’s groove
• Lateral indentation of the chest wall at the site of attachment of diaphragm because the patients lack the mineralized calcium in their bones necessary to harden them; thus the diaphragm, which is always in tension, pulls the softened bone inward.
• Enlargement of long bones around wrists and ankles
• Bow legs,
• knock knees
• green stick fractures
• Deformities of spine, pelvis and leg – rachitic dwarfism
• Growth retardation due to impaired calcification of bone epiphysis.
(2)Extra – skeletal manifestations
• SEIZURES
• TETANY i.e periodic painful muscular spasms and tremors, caused by faulty calcium metabolism and associated with diminished function of the parathyroid glands.
• HYPOTONIA AND DELAYED MOTOR DEVELOPMENT Muscle weakness
• PROTUBERANT ABDOMEN, BONE PAIN, WADDLING GAIT AND FATIGUE.
In older children presenting with rickets
B - Investigations
• BASIC INVESTIGATIONS TO CONFIRM RICKETS
• Serum Ca, P and X rays of ends of long bones at knees or wrists
• Hypocalcemia
If Serum Calcium less than 8.0 mg/dl
• Widening, fraying, cupping of the distal ends of shaft.
• Tetracycline-labelled bone biopsy. Gold stansar.
Difference Between Osteoporosis & Osteomalacia
• Osteoporosis refers to the degeneration of already constructed bone, making them brittle,
• while osteomalacia is an abnormality in the building process of bone, making them soft.
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
OsteomalaciaX- 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
Cortical erosion
Pathological #
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 cases1 mg of vit-D = 40,000 IU
1 IU = 0.025 microgram
Rickets & Osteomalacia
Target of therapy
low -N = CaN- = phosphatehigh - N = alkaline phosphatase
Over dosing side effect of Vit – D prevented
Rickets & Osteomalacia
Treatment
1. Vit-D deficiency state
Vit –D 1,000 – 10,000 I.U./day 4- 6 wk
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 ?
Followed by 400 IU / day
Rickets & Osteomalacia
Treatment
2. Absorption defectVit- 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 – IIRespond with high dose of
1, 25 Vit – D
1,000- 20,000 IU /day for 3-6 mth
Calcium - - 1-3 g / day
i/v Ca with oralsupplement
Rickets & Osteomalacia
Treatment
6. Renal tubular
Vit- D 1,000 – 4,000 IU/ day
Alkalizing solution; K supplement