Rickets is a disease of growing bones caused by lack of vitamin D and calcium. It most commonly affects children aged 6 months to 2 years who are breastfed but not supplemented. Symptoms include bone pain, bowed legs, and fractures. Diagnosis involves blood tests showing low calcium and vitamin D levels and characteristic bone changes on x-rays. Treatment involves high dose vitamin D and calcium supplementation. Long term consequences can include permanent bone deformities if left untreated.

1. Rickets

2. ObjectivesDefinitionEpidemiologyPathophysiologyPresentationRole of vitamin DEtiologyManagementSummary

3. Definitiona disease of growing bone, occurs in children before fusion of the epiphyses, due to unmineralized matrix at the growth plates, resulting in growth retardation and delayed skeletal development

4. epidemiologyIn developed countries, rickets is a rare disease incidence of less than 1 in 200,000In saudiarabia[1]retrospective study at King Abdulaziz Medical City-King Fahad National Guard Hospital in Riyadh, Saudi Arabia 2009196 infants (70%) were exclusively on breast-feeding (127 males, 69 females) with no supplementationThe records of Saudi infants and children under the age of 14 months over a 10-year period (between January 1990 and January 2000) were reviewed.283 infants were studied.Epidemiology of nutritional rickets in children.Al-Atawi MS, Al-Alwan IA, Al-Mutair AN, Tamim HM, Al-Jurayyan NA.Department of Pediatric, National Guard Health Affairs, King Abdulaziz Medical City, Riyadh, Saudi Arabia

5. EpidemiologyHigher risk for developing rickets include:Children ages 6 months to 24 months are at highest risk, because of rapidly growing bonesBreast-fed infants whose mothers are not exposed to sunlightBreast-fed infants who are not exposed to sunlightPremature Babies dark skin Babies Individuals consuming some medications:Anticonvulsants, Cadmium, Fluoride, Lead, Aluminum

6. PathophysiologyBone consists of a protein matrix called osteoidand a minerals, principally composed of calcium and phosphate, mostly in the form of hydroxyapatite.Because growth plate cartilage and osteoid continue to expand, but mineralization is inadequate, the growth plate thickens. There is also an increase in the circumference of the growth plate and the metaphysis.

7. GENERAL Failure to thrive

8. Listlessness

9. Protuding abdomen

10. Muscle weakness (especially proximal)

11. FracturesHEAD Craniotabes

12. Frontal bossing

13. Delayed fontanelle closure

14. Delayed dentition; caries

15. CraniosynostosisCHEST : Rachitic rosary “Costochondral swelling” Harrison groove Respiratory infections and atelectasisBACK : Scoliosis Kyphosis Lordosis

16. EXTREMITIES Enlargement of wrists and ankles

17. Valgus or varus deformities

18. Bowed legs (genuvarum) in Toddlers

19. Knock-knees(genuvalgum) in older children

20. Anterior bowing of the tibia and femur

21. Coxavara

22. Leg painHYPOCALCEMIC SYMPTOMS :Tetany

23. Seizures

24. Stridor due to laryngeal spasmClinical Findings

25. Vitamin DIt is important for calcium homeostasis and for optimal skeletal health. vitamin D3Cholecalciferolmade in the skin or obtained in the diet from fatty fishVitamin D2ergocalciferolalciferolObtained from plantsCALCITRIOLEActive Form

27. Vitamin D actionsPromotes Ca & P absorption in small gut .Increase Ca & P reabsorption in the kidneys.Direct effect of menirals metabolism of bones "depositioin & resorption "

28. Rickets etiology Intake “Nutritional” (Most Common) Absorption (celiac, IBS, malabsorption syndromes)Hereditary:Vitamin D–dependent rickets “type I” (Renal Hydroxylation)vitamin D–resistance rickets “type II” (Vit D receptor Defect)Familial Hypophosphatemic rickets

29. Defective 25-hydroxylase ricketsDrug-induced ricketsRenal causesFanconi syndrome

30. Renal osteodystrophyNutritional Ricketsthe most common cause of rickets globally Dietary rickets can be a consequence of inadequate intake of calcium, vitamin D, phosphate, or a combination of these.reserves of vitamin D in the neonate highly depend on the mother's vitamin D status. More with Breast-fed infants300,000–600,000 IU of vitamin D are administered orally or intramuscularly as 2–4 doses over 1 daydaily, high-dose vitamin D, with doses ranging from 2,000–5,000 IU/day over 4–6 wkOR

31. Vitamin D–dependent rickets “type I”a.k.a vitamin D pseudodeficiency (PDDR) because it can be corrected with high daily doses of vitamin DGenetic deficiency disorder, have mutations in the gene encoding renal 1α-hydroxylase Autosomal recessive inheritance, chromosome 12They have normal levels of 25-D, but low levels of 1,25-D ( LOW calcitriol), high PTH and low serum phosphorus levels.Treatment is calcitriol 0.5-1.5 mcg/d. Also respond to pharmacologic doses of vitamin D (5000-10,000 u/d).

32. Vitamin D–resistant rickets “type II”a.k.a hereditary 1,25-dihydroxyvitamin D–resistant rickets [HVDRR]autosomal recessive inheritance of a mutations in the gene encoding the vitamin D receptorThe clinical picture is evident early in life, and consists of rickets with very severe hypocalcemia and alopeciaHypocalcemic and usually normophosphatemic. Some patients have benefited from intravenous calcium (400-1400 mg/m2/d) followed by oral therapy with high doses of calcium