Rickets: Etiology, pathogenesis, clinical features, diagnostics, treatment and prevention

1. Rickets:Etiology, pathogenesis, clinical features, diagnostics, treatment and prevention Lecturer: prof. Pavlyshyn G.A.

2. Sunlight as a source of vitamin D Adequate supplies of vitamin D3 can be synthesized with sufficient exposure to solar ultraviolet B radiation Melanin, clothing or sunscreens that absorb UVB will reduce cutaneous production of vitamin D3

3. Reasons of vitamin Ddeficiency • Environmental conditions where sunlight exposure is limited like indoor confinement or working indoors during daylight hours may reduce source of vitamin D; • Inadequate daily consumption - a lack of vitamin D in the diet, a dietary lack of calcium and phosphorous may also play a part in nutritional causes of rickets, have trouble digesting milk products, people who are lactose intolerant; • Liver Failure; • Dark Pigmentation

4. Reasons of deficiency vitamin D • Problem of malabsorption called steatorrhea, in which the body is unable to absorb fats, and they are passed directly out the body in the stool. The result of this problem is that Vitamin D, which is usually absorbed with fat, and calcium are poorly absorbed. This poor absorption can be a result of digestive disorders. Steatorrhea could also lead to other deficiencies. • Kidney Failure (congenital or acquired kidney disorders) - due to tubular acidosis in which there is an increased amount of acid in the body;

5. Etiology 2. Improper feeding: 1) Inadequate intake of Vitamin D Breast milk 0-10IU/100ml Cow’s milk 0.3-4IU/100ml Egg yolk 25IU/average yolk Herring 1500IU/100g 2) Improper Ca and P ratio

6. Pathogenesis Vitamin D deficiency Absorption of Ca, P Serum Ca Function of Parathyroid

7. Clinical signs Rickets is a systematic disease with skeletons involved most, but the nervous system, muscular system and other system are also involved.

8. Clinical signs • Generalized muscular hypotoniais observed in the most patients with clinical signs of rickets. • Craniotabes manifests early in infants, although this feature may be normal in infants, especially for those born prematurely. • If rickets occurs at a later age, thickening of the skull develops. This producesfrontal bossinganddelays the closure of the anterior fontanelle. Frontal bossing

10. Skeletal deformities • includingBow legs, Forward projection of the breastbone - pigeon chest or pectus carinatum), • Funnel chest • (pectus excavatum), • "Bumps" in the rib cage(rachitic rosary) and asymmetrical or odd-shaped skull;

11. Chest deformity Funnel chest – pectus excavatum Pigeon chest

13. Clinical signs • In the chest, knobby deformities results in the rachitic rosary along the costochondral junctions. • The weakened ribs pulled by muscles also produce flaring over the diaphragm, which is known as Harrison groove. • The sternum may be pulled into a pigeon-breast deformity. Rib beading (rachitic rosary)

14. Clinical signs • Increased tendency toward bone fractures. Because the softened long bones may bend, they may fracture one side of the cortex (greenstick fracture). • In the long bones, laying down of uncalcified osteoid at the metaphases leads to spreading of those areas, producing knobby deformity (cupping and flaring of the metaphyses).

15. Clinical signs • Spine deformities(spine curves abnormally, includingscoliosis or kyphosis). • In more severe instances in children older than 2 years, vertebral softening leads tokyphoscoliosis

16. Clinical signs • Pain in the bones of Arms, Legs, Spine, Pelvis. • Dental deformities • Delayed formation of teeth • Defects in the structure of teeth • Holes in the enamel • Increased incidence of cavities in the teeth (dental caries)

17. Clinical signs • Progressive weakness • Decreased muscle tone (loss of muscle strength) • Muscle cramps • Impaired growth • Short stature (adults less than 5 feet tall) • Fever or restlessness, especially at night

18. Laboratory findings Laboratory investigation may include: • serum levels of calcium (total and ionized with serum albumin), • phosphorus, • alkaline phosphatase (ALP) • parathyroid hormone, • urea nitrogen, • calcidiol • urine studies includeurinalysis and levels of urinary calcium and phosphorus.

19. Laboratory Studies • Early on in the course of rickets, the calcium (ionized fraction) is low; however it is often within the reference range at the time of diagnosis as parathyroid hormone levels increase. • Calcidiol (25-hydroxy vitamin D) levels are low, and parathyroid hormone levels are elevated; however, determining calcidiol and parathyroid hormone levels is typically not necessary. • Calcitriol levels may be normal or elevated because of increased parathyroid activity. • The phosphorus level is invariably low for age. • Alkaline phospohatase levels are elevated. • A generalized aminoaciduria occurs from the parathyroid activity; aminoaciduria does not occur in familial hypophosphatemia rickets (FHR).

20. Clinical manifestationStages Early stage Usually begin at 3 months old Symptoms: mental psychiatric symptoms Irritability, sleepless, hidrosis Signs: occipital bald Laboratory findings: Serum Ca, P normal or decreased slightly, AKP normal or elevated slightly, 25(OH)D3 decreased Roentgen-graphic changes: normal or slightly changed

21. Clinical manifestation Advanced stage On the base of early rickets, osseous changes become marked and motor development becomes delayed. 1. Osseous changes: 1) Head: craniotabes, frontal bossing, boxlike appearance of skull, delayed closure of anterior fontanelle 2) Teeth: delayed dentition with abnormal order, defects 3) Chest: rachitic rosary, Harrison’s groove, pigeon chest, funnel-shaped chest, flaring of ribs

22. Clinical manifestation 4) Spinal column: scoliosis, kyphosis, lordosis 5) Extremities: bowlegs, knock knee, greenstick fracture 6) Rachitic dwarfism 2. Muscular system: potbelly, late in standing and walking 3. Motor development: delayed 4. Other nervous and mental symptoms

23. Clinical manifestation Laboratory findings: Serum Ca and P decreased Ca and P product decreased AKP elevated Roentgen-graphic changes: Wrist is the best site for watching the changes Widening of the epiphyseal cartilage Blurring of the cup-shape metaphyses of long bone

24. Clinical manifestation Healing stage: Symptoms and signs of Rickets alleviate or disappear by use of appropriate treatment. The blood chemistries become normal, except AKP, that may be slightly elevated. Sequelae stage: All the clinical symptoms and signs disappear. Blood Chemistries and X-ray changes are recovered, but osseous deformities may be left. Usually seen in Children after 3 years old.

25. Classification • I Mild form: small changes of nervous system, changes of one part of the skeleton; • II Moderate form: changes of all organs and systems, changes of two parts of the skeleton; • III Severe form: damaging function of all organs and systems, changes of three parts of the skeleton;

26. Treatment Special therapy: Vitamin D therapy A. General method: Vitamin D 2000-4000 IU/day for 2-4 weeks, then change to preventive dosage – 400 IU. B. A single large dose: For severe case, or Rickets with complication, or those who can’t bear oral therapy. Vitamin D3 200000 – 300000 IU, im, preventive dosage will be used after 2-3 months.

27. TREATMENT 1 STAGE • VITAMINE D – “VIDEIN – 3” - 2000 IU 1 TIME\DAY 30 DAYS 2 STAGE • VITAMINE D – “VIDEIN – 3” - 3500 IU 1 TIME\DAY 40 DAYS 3 STAGE • VITAMINE D – “VIDEIN – 3” - 5000 IU 1 TIME\DAY 45 DAYS Then profilactic dose – 500 iu till the end of the second – third year of life

28. Vitamin D • Fat-soluble vitamin used to treat vitamin D deficiency or for prophylaxis of deficiency. • Cholecalciferol (Delta-D) • Vitamin D-3 1 mg provides 40000IU vitamin D activity

29. Treatment 4. Calcium supplementation: Dosage: 1-3 g/day only used for special cases, such as baby fed mainly with cereal or infants under 3 months of age and those who have already developed tetany. 5. Plastic therapy: In children with bone deformities after 4 years old plastic surgery may be useful.

30. Prevention Vitamin D supplements Because of human milk contains only a small amount of vitamin D, the American Academy of Pediatrics (AAP) recommends that all breast-fed infants receive 400 IU of oral vitamin D daily beginning during the first two months of life and continuing until the daily consumption of vitamin D-fortified formula or milk is two to three glasses, or 500 mL. AAP also recommends that all children and adolescents should receive 400 IU a day of vitamin D.

31. Prevention Vitamin D supplementation: In prematures, twins and weak babies, give Vitamin D 800IU per day, For term babies and infants the demand of Vitamin D is 400IU per day, For those babies who can’t maintain a daily supplementation, inject muscularly Vitamin D3 100000-200000 IU.