Rickets of Vitamin D Deficiency

Rickets is failure in mineralization of growing bone

early changes are seen at the ends of long bones in x ray
evidence of demineralization exists in the shafts.
Failure of mature bone to mineralize is called osteomalacia.

ETIOLOGY.
Lack of -
direct exposure to ultraviolet rays in sunlight 296310 nm
these rays do not pass through ordinary window glass
intake of vitamin D

Two forms of vitamin D
Vitamin D2 , or calciferol, available as irradiated ergosterol,
Vitamin D3 , available synthetically, is naturally present in human skin in the provitamin
stage as 7-dehydrocholesterol.
It is activated photochemically to cholecalciferol and transferred to the liver.
These irradiated sterols are hydroxylated in the liver to 25-OH-cholecalciferol and,
subsequently, in the renal cortical cells to 1, 25-dihydroxycholecalciferol, which
functions as a hormone.
Receptors of the hormone are found in the kidneys, intestine, osteoblasts of bone,
parathyroid, islet cells of the pancreas, cells in the brain, mammary epithelium,
Functions =
facilitation of intestinal absorption of calcium and phosphorus
reabsorption of phosphorus in the kidneys
direct effect on mineral metabolism of bone (deposition and reabsorption).
homeostasis of calcium and phosphorus in the body's fluids and tissues.

Egg yolk contains 310 mg/g. 1 mg =40 IU.
exposure to ultraviolet irradiation,

PATHOLOGY.

New bone formation is initiated by osteoblasts,
osteoblasts are responsible for matrix deposition and mineralization.
Osteoblasts secrete collagen,
changes in polysaccharides, phospholipids, alkaline phosphatase, and pyrophosphatase
mineralization occurs in the presence of adequate calcium and phosphorus.
Resorption of bone occurs when osteoclasts secrete enzymes on the bone surface,
dissolving and removing matrix and mineral.
Osteocytes resorb and redeposit bone.
Factors affecting bone growth are phosphorus, calcium, fluoride, and growth hormone

In rickets,
suppression of normal growth of epiphyseal cartilage and of normal calcification.
deficiency in serum of calcium and phosphorus salts
Cartilage cells fail to complete their normal cycle of proliferation and degeneration
failure of capillary penetration occurs in a patchy manner.
result is a frayed, irregular epiphyseal line at the end of the shaft.
Failure of osseous and cartilaginous matrix to mineralize in the zone of preparatory
calcification,
deposition of newly formed uncalcified osteoid, results in a wide, irregular, frayed zone
of nonrigid tissue (the rachitic metaphysis)
This zone, responsible for many of the skeletal deformities, becomes compressed and
bulges laterally, producing flaring of the ends of the bones and the rachitic rosary
Mineralization is lacking in subperiosteal bone
pre-existing cortical bone is resorbed in a normal manner but is replaced by osteoid
tissues over the entire shaft, which fails to mineralize.
If this continues, the shaft loses its rigidity,
softened and rarefied cortical bone is distorted by stress
deformities and fractures result.

Healing Rickets.

With healing, degeneration of cartilage cells occurs along the metaphyseal-diaphyseal
border, capillary penetration of the resultant spaces is resumed, and calcification takes
place in the zone of preparatory calcification.
calcification, occurring at the line at which normal calcification would have occurred had
the rachitic process not supervened, produces a line clearly demonstrable in x ray
healing progresses, the osteoid tissue between this line of preparatory calcification and
the diaphysis also becomes mineralized
Osteoid tissue in the cortex and the shaft becomes mineralized.

Chemical Pathology.

In Vitamin Ddeficient rickets
body attempts to maintain normal serum calcium levels
In the absence of vitamin D, less calcium is absorbed from the intestine.
With lowered serum calcium level, parathormone is secreted,
leads to mobilization of calcium and phosphorus from the bone.
serum calcium concentration is thus maintained,
secondary effects occur, including the changes of rickets in bone and the lowered serum
phosphorus concentration
parathormone decreases phosphorus reabsorption in the kidneys
elevated serum phosphatase levels (due to increased osteoblastic activity).

alkaline phosphatase of serum, in normal children is less than 200 IU/dL,
elevated in mild rickets to more than 500 IU/dL.
As rickets heals, the phosphatase value returns to the normal
Serum alkaline phosphatase levels may be normal in infants who have rickets and who
are protein or zinc depleted.

Calcium and phosphorus =calcium absorption occurs in humans when the ratio of
calcium to phosphorus in the diet is about 2:1
increase in phosphate decreases absorption of calcium.
increase in calcium absorption occurs with acidity of intestinal contents or when lactose
is the dietary sugar.
Chelating agents such as ethylenediaminetetraacetic acid or the phytates of cereals may
decrease calcium absorption,
dietary iron may decrease absorption of phosphate
High dietary levels of stearic and palmitic acids, decrease calcium absorption.

Calcium absorption is facilitated by 1, 25-dihydroxycholecalciferol
Calcium deficiency alone leads to the failure of calcification as seen in rickets and
osteomalacia
it results in a diminished amount of bone.
Vitamin D deficiency is also accompanied by
generalized aminoaciduria
a decrease of citrate in bone and its increased urinary excretion
decreased ability of the kidneys to make an acid urine
phosphaturia, ,
mellituria.
parathyroid glands hypertrophy in rickets,
urinary cyclic adenosine monophosphate level is increased.

CLINICAL MANIFESTATIONS.

breast-fed infants whose mothers have osteomalacia, rickets may develop within 2 mo.
rickets appears at thr end of the 1st and during the 2nd yr of life.

early signs of rickets, craniotabes, is due to thinning of the outer table of the skull
detected by pressing firmly over the occiput or posterior parietal bones.
Ping-Pong-ball sensation is felt.
Craniotabes near the suture lines is normal
Palpable enlargement of the costochondral junctions (the rachitic rosary)
thickening of the wrists and ankles
Increased sweating, around the head
softness of the skull may result in flattening and asymmetry of head.
anterior fontanel is larger than normal
its closure may be delayed until after the 2nd yr of life.
central parts of the parietal and frontal bones are often thickened, forming prominences or
bosses, which give the head a boxlike appearance (caput quadratum).
Eruption of the temporary teeth may be delayed,
there may be defects of the enamel and extensive caries.
permanent teeth that are calcifying may be affected;
permanent incisors, canines, and first molars show enamel defects.

Enlargement of the costochondral junctions may become prominent; the beading of the
ribs is not only palpable but also visible
sternum with its adjacent cartilage appears to be projected forward, producing the so-
called pigeon breast deformity.
horizontal depression, Harrison groove - develops along the lower border of the chest at
the line of insertion of diphragm
deformity of the pelvis
Bending of the shafts of the femur, tibia, and fibula results in bowlegs or knock-knees.
Greenstick fractures occur in the long bones
Deformities of the spine, pelvis, and legs result in short stature, rachitic dwarfism.
Relaxation of ligaments helps to produce deformities and accounts for knock-knees,
overextension of the knee joints, weak ankles, kyphosis, and scoliosis.
muscles are poorly developed and lack tone.
As a result, children with rickets are late in standing and walking
Increased incidence of Respiratory infection
Sometimes rickets is diagnosed by x ray chest taken for pneumonia

DIAGNOSIS.

history of inadequate intake of vitamin D
clinical findings of bone anomaly
bio chemical
serum calcium level may be normal or low,
serum phosphorus level is below 4 mg/dL,
serum alkaline phosphatase level is elevated.
Urinary cyclic AMP level is elevated,
serum 25-hydroxycholecalciferol level is decreased.
X ray of chest / long bone shows widening, splaying, fraying


COMPLICATIONS.

Respiratory infections such as bronchitis and bronchopneumonia
pulmonary atelectasis is associated with severe deformities of the chest.
Anemia due to iron deficiency or accompanying infections

PROGNOSIS.

With treatment healing begins in a few days
progresses slowly until the normal bony structure is restored.

not a fatal disease,
complications and intercurrent infections such as pneumonia, tuberculosis, and enteritis
may cause death
PREVENTION.

exposure to ultraviolet light
by oral administration of vitamin D.
daily requirement of vitamin D is 10 mg or 400 IU.
Premature infants or breast-fed infants whose mothers are not exposed to adequate
sunlight should receive supplemental vitamin D daily.

Vitamin D should also be administered to pregnant and lactating mothers.

TREATMENT.

Natural sun light
oral administration of vitamin
Daily administration of
50150 mg of vitamin D3 or
0.52 mg of 1,25-dihydroxycholecalciferol
produces healing demonstrable on roentgenograms within 24 wk, except in cases of
vitamin D refractory rickets.

Administering 15,000 mg of vitamin D in a single dose, repeat x ray if no line appears by
4 weeks repeat Vit D if still no healing line it is resistant
rapid healing follows,
earlier differential diagnosis from genetic vitamin Dresistant rickets
less dependence on parents for daily administration of the vitamin.
If no healing occurs, the rickets is probably resistant to vitamin D
After healing is complete, the dose of vitamin D should be lowered to 10 mg/24 hr.











Nelson Textbook of Paediatrics
16th Edition (2000), W.B. Saunders. All rights reserved.
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