ricket and osteomalacia

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


• Older children: Knock-knees

(genu velgum)

Rickets


• 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

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


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


Target of therapy

low -N = CaN- = phosphatehigh - N = alkaline phosphatase

Over dosing side effect of Vit – D prevented


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


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


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


Treatment

4. Vit – Dependent type – I

1, 25 Vit – D 250 IU – 800 IU /day

Calcium 1 g/day


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


Treatment

6. Renal tubular

Vit- D 1,000 – 4,000 IU/ day

Alkalizing solution; K supplement

ricket and osteomalacia

Health & Medicine

rickets radiographic

diagnosis of rickets

types of rickets

clinical features of

vit d resistant rickets

vitamin d dependent

predominant cause of

earliest sign of rickets