excessive unmineralised osteoid Vitamin D helps the body properly control calcium and phosphate levels in the body. When the body is deficient in vitamin D, it is unable to properly control calcium and phosphate levels calcium and phosphorous are found in milk and green vegetables. Defective Vitamin D metabolism – lowering of calcitriol - intestinal malabsorption of calcium - reduction of serum calcium – Parathyroid stimulation – normalised S.calcium at the expense of reduced S.Phosphate Parathormone –
Osteoblastic activity -
ALP activity –
Defective Osteoid mineralization
ultraviolet rays 7-Dihydrocholesterol Cholecalciferol (Vitamin D3)- in dermis
Vit D2 absorbed thru small intestine
Transport in serum- binds with X-globulin 25-Hydroxylation in Liver 1,25- Dihyroxylation in Kidney – active form Nutritional Absorptive Renal Others Decrease in effect & amount of Sunlight Bread/Chapathi rich in Phytate bind dietary calcium – reduced absorption
Infants who are exclusively breastfed may
develop vitamin D deficiency. Poor Dietary intake of Ca & Vit D Malabsorption disorders – Coeliac d/s, hepatic osteodystrophy, lactose intolerance Renal – Renal osteodystrophy, Nephrectomy, renal failure, hypoparathyroidism, X-linked hypophosphatemia/Vit D resistant rickets Vitamin dependant Type I (Inability to hydroxylate) Vitamin dependant Type II (Receptor insensitivity)
Anticonvulsant therapy( 25OH in liver)
Failure of deposition of Ca along mature cartilage cell columns Disorderly invasion of cartilage by blood vessels Lack of reabsorption at the zone of provisional calcification Increased thickness of epiphyseal plate Abundant osteoid with Defective mineralization No resorption of uncalcified osteoid by osteoclasts Normal osteoblast – laid irregularly Abnormal arrangement of collagen bundles in compact bone Long bones bent when child starts crawling/walking Bone pain or tenderness Arms Legs Spine Pelvis Skeletal deformities o Bowlegs o pigeon chest o rachitic rosary o Frontal bossing o Spine deformities (spine curves abnormally, including scoliosis or kyphosis ) o Pelvic deformities Increased tendency toward bone fractures Dental deformities o Delayed formation of teeth o Defects in the structure of teeth, holes in the enamel o Increased incidence of cavities in the teeth ( dental caries ) o Decreased muscle tone (loss of muscle strength) Muscle cramps Impaired growth Short stature Acute stage
Normal epiphyseal appearance clouded
Metaphyseal splaying Thickened periosteum Epiphysis Mottled & irregular Metaphysis ragged & broader Periosteal thickening disappears Dense shadow Dense line at the end of metaphysis- deposition of Ca Stage of repair Increase in breadth of metaphysis Clearly defined bone Normal content of Ca salts Bone completely repaired Serum Ca low or normal. o Tetany -prolonged muscle spasm. o Chvostek's sign may be positive (a spasm of facial muscles occurs when the facial nerve is tapped) S.Phosphorus may be low. S.ALP may be high. ABG may reveal metabolic acidosis Urinary Ca may be low . 24-hydroxylase assay – for vitamin D dependency rickets
Serum 25-OH vitamin levels
A bone biopsy is rarely performed but will
confirm rickets. Congenital syphilis Infantile scurvy Goals - relieve symptoms and correct the cause of the condition.
Underlying cause must be treated to prevent
recurrence. Medical treatment
Prevention of deformity
Treatment of existing deformity
Dietary sources of vitamin D include fish, liver, milk and cheese. Exposure to moderate amounts of sunlight is encouraged. Reduce cereal containing phytates Supplemention of Calcium and Vitamin D – 3000 i.u./day Before treatment and 2 years after treatment with calcium Control of movements – reduced pressure upon limbs (soft bones easily bent by pressure / muscle strain)
Positioning or bracing with ‘rickets’ splints may be
used. Correction by splinting In young children below 4 yrs Useful in lower limbs Continuous supervision needed to prevent sores Correction by osteotomy When deformity is near a joint At least stage 3 in radiograph Chronic skeletal pain Skeletal deformities Skeletal fractures, may occur without cause Rickets of prematurity Very premature infants at risk Risk factors- hepatobiliary d/s, TPN, Diuretic therapy, chest percussion therapy Pathologic # in NICU Readily heal with treatment Antiepileptic medications Induce microsomal P-450 enz Decreased Vit D Should be suspected in neurologic patients having seizures Start having frequent # Familial hypophosphatemic rickets X-linked dominant (MC)- Mutn in PEX gene Aut dominant 12p13 – phosphatonins – fgf 23 – cause phosphaturia Aut recessive Renal tubule unable to retain PO4 End organ insensitivity to vit D (AR) Kidney unable to perform 2nd hydroxylation Renal tubular acidosis (kidney excretes fixed base and wastes bicarbonate) Ca ppt – renal calcinosis Older age Delayed walking, angular deformities Systemic manifestn – irritability and apathy minimal Treatment – Oral Phosphorus , Vit D (Compl – nephrocalcinosis) Growth hormone – increased height, increased PO4, reduced Nephrocalcinosis Surgery not efficacious – multilevel osteotomy to correct mechanical axis Recurrent deformity common Surgery when - gait compromised/severe pain Oncogenic hypophosphatemic osteomalacia Asso with Neurofibromatosis, fibrous dysplasia Osteoblastoma, hemangiopericytoma of bone, skin tumors (disrupts renal tubular abs of po4) Secrete phosphatonins Resolve with excision of tumor C/C pyelonephritis Congenital Abnormalities Polycystic kidney d/s Secondary hyperparathyroidism Leads to actvn of osteoclast and resorption of bone (high turn over d/s) Glomerulus unable to excrete Phosphorus Vit D prodn reduced Ca abs from S.Intestine reduced PTH triggered Increased S.Ca – bone demineralization Precipitate in cornea, skin, blood vessels C/F similar to Nutritional. Angular deformity, SCFE, AVN Radiography – cuppping of physis not present Subperiosteal resorption in phalanges, MC and ulna (feature of Hyperparathyroidism) Osteosclerosis of skull, rugger jersey spine Lytic areas in long bones (Brown tumors) Treat underlying d/s- Ca, Vit D, growth hormone, osteotomy, Ilizarov Ca Normal or low in all
Phosphate is reduced in all except Renal
Osteodystrophy ALP and PTH high in all
25 OH Vit D N or high in all except
nutritional (decreased) 1,25 (OH)2 N or low in all except Vit D dependent typeII (receptor insensitivity) Maintain an adequate intake of calcium, phosphorus, and vitamin D.
This may require dietary supplements in
people who have gastrointestinal or other disorders
Renal causes of vitamin D should be treated
promptly. Levels of calcium and phosphorus should be monitored regularly in people who have renal disorders .
Genetic counseling may help people with a family
history of inherited disorders that can cause rickets.