RICKETS - Clinical features, radiological features, classification, diagnosis and management.pptx

About rickets - due to Vitamin D deficiency
Here we discuss about the clinical features, radiological features , classification , Diagnosis, Laboratory investigations and treatment of rickets

1. RICKETS

2. Introduction Disease of infancy and childhood bony manifestation of altered vitamin D, calcium and phosphorus metabolism in a child Characterized by softened and deformed bones Osteomalacia is seen in adults, after the fusion of epiphysis In developed countries, renal tubular defects have become the most common cause of Rickets

3. Rickets is rare during first 6 months because of ample nutrition derived in utero Lack of prenatal calcium and vitamin in mother is the main cause of rickets in new borns Infantile rickets is the most common type : 6months to 3 years of age Late rickets or Rachitis tarda is rare. Important complication of it is separation of epiphysis, especially upper femoral epiphysis

4. Etiology Type 1 a) Due to deficiency of Vit . D Diminished intake : malnutrition Diminished absorption (malabsorption, gastric abnormalities, biliary diseases) Lack of sunlight exposure b) Due to disturbance in Vit D metabolism Hepatic cause Renal causes Unresponsiveness of target cells to 1-25 dihydroxy vitD Type 2 a) Due to defective renal absorption of Phosphates Hypophosphatemic Rickets Fanconi Syndrome Renal Tubular Acidosis Oncogenic Rickets b) Due to reduced intake of Phosphates

5. Deficient sunlight is a main cause : more in winter and non tropical regions Black and the Italians show marked predisposition Antiepileptic drugs administered to children for prolonged periods will induce the formation of liver enzyme that interferes with the conversion of calciferol into active forms

6. Vitamin D and its Metabolism Vit D is a fat soluble vitamin Found in fish-liver oils, milk, butter, egg yolk and animal fats Commercially prepared by the irradiation of ergosterol , prepared from yeast Endogenous form is cholecalciferol

7. Unavailability of cholecalciferol /sunlight Insufficient production of active vit D Decreased Calcium absorption Hypocalcemia

8. Hypocalcemia induces parathyroid hyperplasia Excess PTH restores blood level of Calcium by mobilization from bone, increasing calcium absorption and renal reabsorption ALSO PTH reduces the renal resorption of Phosphorus causing Phosphaturia and Hypophoshatemia Thus it cause insufficient calcium and phosphorus lebels for mineralisation of new bone

9. Pathology Histologic feature is osteoid, which is the protein base in which calcium and phosphorus salts failed to deposit On active Stage : Proliferation of cartilage cells, palisade arrangement and matrix formation proceed normally but calcification is deficient Cartilage cells proliferate and accumulate with osteoid causing widened epiphysis In metaphysis and diaphysis thick layers of osteoid are laid down A layer of osteoid develops subperiosteally as a growth cause globular enlargements : rachitic rosary in ribs

10. Healing Stage: Calcium salts are deposited Osteoid is transformed to bone Thickness of epiphyseal plate gets reduced to normal size

11. CLINICAL FEATURES HEAD 1. Craniotabes : Pressure over the membranous bones of skull gives the feeling of ping pong ball being compressed and released

12. 2. Frontal and Parietal bossing : Evident at 6 months of age 3. Delayed Closure of fontanelles 4.Caput Quadratum : Flattening of occiput and vertex , along with bossing causes enlarged Squared appearance 5. Delayed teeth eruption

13. CHEST 1. Rachitic Rosary : Beading enlargements at costochondral junction

14. 2. Harrison’s Groove : Horizontal depression along the attachment of diaphragm at subcostal margin - Caused by the pull of diaphragm on softened ribs

15. 3. Pectus Carinatum (Pigeon chest) -Chest cage narrowed transversely and elongated anteroposteriorly

16. Long Bones : 1. Broadening of the ends of long bones -Most common in wrists and knees -Seen around 6-9 months of age 2 . Short Stature -Seen in untreated or resistant rickets Frequent Incomplete fractures Pelvis - Compressed transversely and inlet narrowed

17. Deformities : 1. Knock Knees 2. Bowlegs 3. Windswept Deformity - Bowleg on oneside and knock knee on other side

18. Muscular Hypotonia Protruded abdomen Delayed milestones Hypocalcemia cause tetany, convulsions etc Associated with restlessness, skin pallor, profuse diaphoresis

19. Radiologic Findings Delayed appearance of epiphysis Widening of the epiphyseal plates : because of excessive accumulation of uncalcified osteoid at the growth plate Cupping of the metaphysis : Epiphyseal border of the metaphysis is cup shaped, ill defined and frayed -More seen with epiphyseal plates having greatest growth rate eg : lower end of femur, upper end of tibia

20. Splaying of the Metaphysis : -Due to the pressure by the cartilage cells accumulating at the growth plate Rarefaction of the diaphyseal cortex Due to osteoid deposition

21. Deformities : knock knees, bowlegs In healing phase : a dense line appears at epiphyseometaphyseal junction

22. Investigations Serum Calcium levels :May be low or normal -Compensatory hyperparathyroidism normalise the calcium levels at the cost of phosphorus Serum Phosphorus : decreased Serum 25-hydroxyvitamin D3 level : reduced in Vit D deficiency (MOST SPECIFIC) Serum ALP : elevated – marker of bone turnover Urine calcium : creatinine ratio : to detect hypercalcemia / Vit D toxicity Serum PTH level : To evaluate PTH response Serum 1,25-dihydroxyvitamin D3 level may be normal due to decreased PTH

23. PREVENTION Administration of Vitamin D Adequate sunlight exposure Recommeded Dietary Allowance (RDA) of Calcium is 700mg for children; 1000-1200mg for adults RDA of Vit D is 800 IU for children and elderly people and 600 IU for young adults

24. TREATMENT Calcium and Vit D3 supplementation Regimens : Stoss therapy : 300,000-600,000 IU given over 5 days 600,000 IU given as a weekly dose 60,000 IU orally or intramuscularly Daily therapy of 5000 – 6000 IU for 8 – 12 weeks 1 mcg = 40 IU Supplemental Calcium should be given to all children with Vitamin D therapy at 50 – 70mg/kg per day for 6 – 12 weeks

25. MONITORING OF TREATMENT Serum ALP starts declining and normalizes after 3-6 months Radiological healing is visible as a line of calcification at the metaphysis of long bones after 2 – 4 weeks Overdose of Vit D used in therapy can result in hyper calciuria and can be detected by urinary calcium estimation Deformity of extremities spontaneously regresses over a period of months Failure of spontaneous correction signifies inadequate dosage of Vit D

26. VITAMIN D RESISTANT RICKETS Types : Familial Hypophosphatemic Rickets Renal Tubular Acidosis Vitamin D- dependant Rickets They are severe and fail to respond to massive doses of Vitamin D

27. VITAMIN D – Dependant Rickets Type I VDDR : autosomal recessive Mutation in gene for renal 1-alpha hydroxylase enzyme There will be insufficient amount of active vitamin D (1,25- dihydroxy Vit D) They can be ditingushed from rickets as they have normal level of 25-hydroxyl Vit D and low 1,25- dihydroxy Vit D Treatment : Supplementing active 1,25- dihydroxy Vit D at 0.25 – 2mg/ day

28. Type II VDDR : Autosomal Recessive Mutation in gene for Vitamin D receptors So end organ don’t respond to 1,25- dihydroxy Vit D 1,25- dihydroxy Vit D levels will be elevated Maybe associated with Alopecia Treatment : Administration of very high doses of Vitamin D

29. RICKETS DUE TO RENAL CAUSES Forms of Renal caused rickets are Renal Dwarfism, Renal Pseudorickets and Renal Osteitis Fibrosa They can be of Disease with Phosphate retention and those with excessive Phosphorus loss

30. Renal disease with Phosphate retention Serum calcium level is lowered, because it is used up as a base to combat acidosis caused by high phosphorus level Parathyroid hypertrophy is also seen to produce more hormone and thus promote excretion of Phosphorus or promoting resorption of bone tissue Thus pathologically bone destruction will be predominant

31. Renal Disease with Excessive Phosphorus Loss 1. Fanconi Syndrome Renal tubules fail to absorb phosphates, glucose and many amino acids Low serum phosphorus with glycosuria and aminoaciduria 2. Failure of tubules to form a base low levels of calcium and phosphorus - failure in mineral deposition Associated with Nephrocalcinosis or nephrolithiasis

32. Treatment of Renal Rickets Alkaline salts are administrated High calcium intake In severe renal insufficiency cases Dialysis is required

33. THANK YOU