Rickets

INTRODUCTION,ETIOLOGY,�EPIDEMIOLOGY,CLINICAL MANIFESTATIONS,DIAGNOSIS,MANAGEMENT AND COMPLICATIONS OF RICKETS

1. INTRODUCTION,ETIOLOGY, EPIDEMIOLOGY,CLINICAL MANIFESTATIONS,DIAGNOSIS,MANAGEMENT AND COMPLICATIONS OF RICKETS Dr.Akhileswari Final Yr PG

2. INTRODUCTION Rickets is the most common metabolic disease of bones in children of developing countries because of poverty, malnutrition, illiteracy. Rickets is common in 6 months to 3 years of age k/a infantile rickets It is rarely seen in first 6 months of age k/a fetal rickets- achondroplasia Late rickets or RACHITIS TARDA is seen rarely in adolescents in conditions of famine or vitamin resistance

3. DEFINITION : A disease of infancy and childhood due to disturbances in calcium and phosphate metabolism which results in defective mineralization of growing bones before fusion of epiphyses.

4. 1.Nutritional rickets 2.Vitamin D resistant rickets. 3.Vitamin D dependent type-I (inability to hydroxylate ). 4.Vitamin D dependent type-II (receptor insensitivity). 5.Renal rickets CLASSIFICATION:

5. ETIOLOGY: 1.Nutritional: Most common cause in developing countries Dietary deficiency of vitamin-D leads to decreased absorption of calcium and phosphorus from the intestine.

6. 2. Malabsorption : Intestinal diseases like - steatorrhea , celiac disease, sprue , common diarrhea Surgical conditions like - post gastrectomy ,small bowel resection etc . 3.Lack of sunlight exposure 4.Hepato biliary conditions:( decreased 25- hydroxylation ) Extrahepatic biliary atresia,Neonatal hepatitis, Cystic fibrosis Drugs -Prolonged anticonvulsant therapy

7. 5.Renal causes : Defective absorption of phosphates through renal tubule Hypophosphataemic rickets (x-linked dominant) Fanconi syndrome Renal tubular acidosis Oncogenic rickets Diminished intake or absorption of phosphates

8. Skeletal changes: The characteristic pathological changes in rickets arise from the inability to calcify the intercellular matrix in the deeper layers of the physis Epiphysis - wide and irregular proliferative zone: are active but are piled up irregularly zone of calcification: poorly mineralized Metaphysis – The new trabeculae are thin and weak, and with joint loading the juxta -epiphyseal metaphysis becomes broad and cup- shaped .

9. Clinical features: Early features are Muscular weakness, Lethargic, Malaise irritability. Tetany, convulsions Repeated diarrhea Head : Frontal and parietal bossing Flatenning of vertex and occiput causing enlarged squared appearance - caput quadratum Delayed closure of fontanelle Skull bones are thin and soft – craniotabes

10. Chest : 1. Rachitic rossary : enlargement of costochondral   junction 2. Harrison Groove : lateral indentation of chest 3. Pectus carinatum - chest cage narrowed transversely and elongated anteroposteriorly 5.Thoracic asymmetry 6 .Respiratory Infections 8. Atelectasis

11. Abdomen: Protuberant abdomen ( potbelly ) develops due to hypotonia of abdominal muscles

12. Spine: Kyphosis Scoliosis Pelvis : Compressed transversely and inlet is narrowed

13. Deformities of extremities: Enlargement of wrists and ankles, knees due to Growth plate widening Valgus or varus deformities Anterior bowing of tibia and femur Coxa Vara

14. Others: incomplete fractures growth restriction delayed dentition caries, enamel hypoplasia hypocalcemic symptoms like tetany, seizures, stridor due to laryngospasm

15. Diagnosis: 1. History – dietary intake, sun exposure, maternal risk factors, drug history , malabsorption ,renal diseases 2. Classical clinical signs and symptoms 3.Radiological changes - The earliest x-ray changes are often observed in lower ends of the ulnar and radius 4. Laboratory tests 5.Bony biopsy , tetracycline labeling in vivo and the calcium infusion test have been employed.

16. X-Ray: Acute stage (early): Epiphysis: Cloudy area containing > 1cm indistinct centre of ossification. Metaphysis: splayed out Periosteum : thickened Fractures of long bones .

17. Second stage (established): Epiphysis : mottled, irregular, ill-defined shadow Metaphysis: ragged, broader than normal Periosteum : normal, if bowing is present thickened on concave side.

18. Third stage (stage of repair): Shadows become denser Dense line at end of metaphysis due to deposition of calcium Epiphysis is more clearly outlined yet mottled Marked different in size between end of shaft and epiphysis .

19. Fourth stage (completely repaired): Increase in breadth of metaphysis Bone clearly defined with normal calcium content.

20. Laboratory findings: Total calcium level is normal or low Serum phosphorus level is typically reduced Serum alkaline phosphatase is elevated Serum 25 hydroxy cholecaciferol level is decreased Urinary calcium levels are lowered

21. Management – Treatment of rickets consists of Medical treatment Prevention of deformities Treatment of existing deformities

22. Medical treatment: Prevention: Adequate sunlight exposure and consumption of milk and cheese prevents development of rickets. Daily requirement of vitamin D is 10  g (400I.U )..

23. Active Treatment: O ral or parenteral administration of Vitamin D is preferred. In active, florid rickets, massive dose of 15,000  g/ 15 mg (600000 IU) vitamin-D intramuscularly as a single dose every 2 wks ( STOSS REGIMEN ) once healing is started ,400 IU can be given daily

24. In milder cases 50 to 150  g (2000 to 6000 I.U) vitamin-D daily for 4-6 wks ,in addition adequate intake of calcium should be ensured by giving milk or oral calcium gluconate or calcium lactate It takes 2-4weeks for X-ray evidence of healing to be evident . A dense metaphyseal line of calcification can be demonstrated on X-ray k/a - FRENKELS LINE

25. Prevention of deformity: As the bones are soft and can bend easily by pressure or muscle strain, child’s movements should be controlled, so that no weight or pressure is exerted upon his limbs. Splints can be used to prevent deformity.

26. TREATMENT OF ESTABLISHED DEFORMITY: Deformity can be corrected by splints or by osteotomy Splinting : When deformity is slight and disease still active, in younger children below age of 4 years splinting can be helpful Correction by osteotomy : This method is used when the deformity is in the vicinity of a joint. Osteotomies should not be carried out until the radiographs indicate that at least third stage of rickets has been reached Osteotomies attempted before this period leads to nonunion.

27. Vitamin D dependent rickets Rare causes of 1,25-(OH)2D failure are two heritable (autosomal recessive) disorders. Type I (pseudo vitamin D deficient rickets) : deficiency of 1α-hydroxylase children develop very severe rickets and secondary hyperparathyroidism multiple fractures and generalized myopathy need life- long treatment with 1-(OH) D.

28. Type II : resistant to treatment with both vitamin D and calcitriol (1,25-(OH)2D). Plasma 1,25-(OH)2D levels are elevated but vitamin D receptors at the target organs (intestine and bone) are defective Neither vitamin D nor any of its metabolites is curative and patients may need long-term parenteral calcium

29. Hypophosphataemic rickets Chronic hypophosphataemia occurs in a number of disorders in which there is impaired renal tubular reabsorption of phosphate. Calcium levels are normal and there are no signs of hyperparathyroidism, but bone mineralization is defective. Treatment: phosphate (up to 3 g per day, to replace that which is lost in the urine) large doses of vitamin D (to prevent secondary hyper- parathyroidism due to phosphate administration)

30. RENAL RICKETS Renal insufficiency, either due to glomerular or tubular disease, is associated with compensatory parathyroid hyperplasia , leading to increased resorption of bone. Failure of absorption of calcium and vitamin D from intestine does not occur, so that uncalcified osteoid tissue does not form as extensively as it does in nutritional rickets. Causes – Congenital -congenital hydronephrosis , congenital cystic disease. Acquired - chronic glomerulonephritis, chronic interstitial neprhitis and nephroses due to heavy metal poisoning

31. Treatment: The acidosis can be reversed by administration of alkaline salts like sodium citrate, sodium lactate or calcium gluconate . Administration of bicarbonate and oral phosphate supplement, also helps to heal bone disease

32. FANCONI SYNDROME In Fanconi syndrome, the renal tubules fail to absorb phosphates, glucose and amino acids. Treatment : Rickets usually responds to large doses of vitamin-D the usual starting dose is 5000 units/24hr which should be increased gradually to a maximum of 2000 to 4000 units/kg/24hr. Most patients require at least 25000 units/24hr to heal rickets

33. It is the most common form of non-nutritional form of rickets and is probably most frequent cause of dwarfism. It fails to respond to usual doses of vitamin-D, but response to massive doses of vitamin-D, the threshold being very high. The mode of inheritance is x-linked dominant, Autosomal recessive and sporadic forms Vitamin-D resistant rickets:

34. Pathology may be: Defect in proximal tubular reabsorption of phosphate Defect in conversion of 25 (OH)D3 to 1,25(OH)1D3. This disorder is pure phosphate deficient rickets

35. Clinical features: Marked familial tendency is observed. The patient is of short stature with all the usual sings of florid rickets. Deformities are severe, especially in lower extremities, where bow-legs, knock knees WINDSWEPT DEFORMITY combination of varus deformity of one leg with valgus deformity of the other. m arked ligamentous instability is typical.

36. Radiological findings: Usual findings of rickets. However, the trabeculae are coarser, broader, and more widely spread than usual Laboratory findings: Low or normal serum calcium level low serum phosphate level elevated alkaline phosphatase Excessive phosphaturia despite hypophosphatemia,

37. Treatment - 1.Phosphate supplementation- Joulies Solution – 5ml-4times a day(Dibasic sodium phosphate +Phosphate acid) 2.Large doses of vitamin-D, 50,000 to 5,00,000 units daily. Such larger doses are close to the toxic range and can cause hypercalcemia and renal injury which may be irreversible. So it is necessary to perform serum calcium and urinary calcium estimations frequently and to adjust the dosage from time to time.

38. 3 .Deformities should be corrected after closure of diaphyses . Patients undergoing osteotomy should stop taking vitamin-D preparations before surgery and should not start them again until they are again ambulating to avoid immobilization hypercalcemia

39. THANK YOU REFERENCES: Apley’s System of Orthopaedics and Fractures 9 th Tachdjian’s Pediatric Orthopaedics Internet