Rickets of Vitamin D

Deficiency

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 Introduction I
 Rickets is the term signifying a failure in
mineralization of the growing bone or
osteoid tissue.

 Maximum incidence is between 3 and 6

months, and an intense, florid form
appear at the end of the first year of life.

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Introduction II
 The name – from the Greek term
“rahis”, signifying an affection of
vertebral spine (because the clinical
manifestations, often, appear in
infants with a spine deformation).

 It was described by Ambroise Paré

under the name “morbus anglicus”
300 years ago.
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 Other forms of rickets
 Idiopathic
◼ Rickets with hypocalcaemia (common
pseudorickets Prader),
◼ Familial hypophosphatemic rickets

 Secondary
◼ Forms of vitamin D resistant rickets
◼ In renal failure,
◼ In extrahepatic biliar atresia,
◼ In distal tubular renal acidosis,
◼ In corticoid therapy and anticonvulsant therapy
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with the phenytoins or phenobarbital.

 Vitamin D
 10 compounds, 2 are of practical
importance:
 vitamin D2, calciferol, available as
irradiated ergosterol, of animal origin.
 vitamin D3, cholecalciferol, present at
the level of the tegument as provitamin
(7-dehidrocolesterol) transformed under
direct exposure to ultraviolet rays in
sunlight (296-300 nm) in irradiated
sterols. 5
 The source:
 exogenous (animal and vegetal) :
◼ Fish and cow liver, egg yolk;
 endogenous.

 Human vs. cow milk – superior in rickets

prevention both quantitative (more
vitamin D) and qualitative, regarding the
fraction calcium /phosphor –optimal

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 Vitamin D metabolism
 Absorption: in small intestine, with the aid of biliary salts.
 Hepatic and renal transformation (hydroxylation): the
irradiated steroids are hydroxylated in the liver to 25 OH
cholecalciferol and, subsequently, in the renal cortical
cells to 1,25 OH dihydroxycholecalciferol, which functions
as a hormone.
 Receptors of the 1,25 OH dihydroxycholecalciferol are
found in the kidneys, intestine, osteoblasts of bone,
parathyroid.
 Its antirachitic functions include facilitation of intestinal
absorption of calcium and phosphorus and of
reabsorption of phosphorus in kidneys and a direct effect
on mineral metabolism of bone (deposition and
reabsorption)

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 Risk factors in rickets:
 Sunny regimen (ultraviolet rays, 296-310 nm, do
not pass through ordinary window glass),
 Prematurity, twins,
 Malabsorption syndrome (celiac disease,
steatorrhea or cystic fibrosis),
 Chronic renal impairment,
 Anticonvulsant therapy enzymatic inductors or
inhibitors (Phenobarbital, Phenitoins, valproic
acid), prolonged corticosteroid therapy,
 Extrahepatic biliary atresia
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 Physiopathology
 Insufficient quantity of vitamin D leads to
the secondary hyperparathyroidism,
necessary for calcium homeostasis,
mechanism easy passed over in severe
forms.
 Modifications secondary to this are:
◼ ossification deficiency of the matrix bone,
◼ accumulation osteoid tissue in excess,
◼ Decrease of the mechanic resistance of the
bone clinically manifested by characteristic bone
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deformation and bone fractures.

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 Clinical manifestations: I
Bone signs
 Cranium:
 craniotabes is one of the early signs of rickets, and is due to thinning
of the outer table of the skull. It is detected by pressing firmly over
the occiput or posterior parietal bones with a Ping – Pong ball
sensation
 frontal bosses, parietals, occipital flattening, asymmetry of the head,
 delay in fontanels closure and dental eruption.
 Thorax:
 tumefaction of costochondral junction
 anterior-posterior flattening deformation
 enlargement of the thorax base,
 sternum projected forward, producing so-called pigeon breast
deformity
 submammary horizontal depression (Harrison groove) – develops
along the lower border of the chest at the level at diaphragm
insertion.
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 Clinical manifestations: II
 Arms and leggs :
◼ Thickening of the wrists and ankles with epiphyseal
enlargement
◼ Bending of the softened shafts of the femur, tibia and
fibula results in bowlegs or knock-knees
◼ Greenstick fractures occur in the long bones
◼ incurbarea membrelor inferioare (genu varum, genu
valgum),
 Spine
◼ Deformity of the spine: dorsal and lumbar kyphosis
◼ scoliosis.
 Pelvis deformity
 Rachitic dwarfism 13
 Clinical manifestations: III
 Musculoskeletal signs
◼ ligamental hyperlaxity (relaxation of ligaments helps
to produce deformities and partly accounts for knock-
knees, overextension of the knee joints, weak ankles),
◼ muscular hypotony
 Delay in motor acquisition: children with
moderately severe rickets are late in standing and
walking
 kyphotic and scoliotic attitude,
 abdominal distension with umbilical hernia.
 La preterm infants:
◼ muscular hypotony
◼ Generalized weakness 14

◼ Very rare bone manifestations

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Clinical manifestations: IV
Hypocalcaemia signs:
◼ latent: Chvosteck sign, Trousseau maneuver

◼ manifested laringospasm, bronchospasm,

carpopedal spasm, convulsions.

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 Biologic:
 Step by step modifications in phosphocalcic
metabolism
◼ initial hypocalcaemia,
◼ second to parathormon (PTH) intervention :
normocalcaemia, hypophosphoremia
◼ when PTH is overpassed: hypocalcaemia,
hypophosphoremia,
 Increased level of the alkaline phosphatases
 Decreased level of the vitamin D metabolites,
 Increased level of the PTH.

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 Radiological:
 cartilage:
◼ Cupping and fraying of the distal ends of the
radius and ulna,
◼ delay in nuclei ossification
 diaphysis:
◼ accentuated demineralization,
◼ thin cortical,
◼ Double contour along the lateral outline of the
radius (periosteal osteoid),
◼ Pseudofractures lines Looser – Milkman -
radiotransparent rectilinear lines ,
◼ deformations and greenstick fractures. 19
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 ECG:

characteristic for hypocalcaemia:

◼ prolonged QT interval, QTc>0,42,
◼ T wave
 sharp,
 ample,
 normal duration.

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 Prophylaxis of Rickets I
 Antenatal:
◼ Administration of vitamin D and calcium to the
pregnant woman
◼ Avoiding premature births.
 Postnatal:
◼ Exposure to the ultraviolet light,
◼ Breast feeding,
◼ obligatory administration of the vitamin D 400 – 800
UI/day, from the age of 7 days to the 18 months,
continuous, than until the age of 5 years from
September to April.

 Frequent used vitamin D medicines are:

◼ Vigantol – oil, Vigantoletten, Sterogyl, dosed at 500
– 1000 UI/drop or tablet. 29
 Prophylaxis of Rickets II
 Another schema: periodic administration of
deposit doses orally or im:
◼ in maternities 200.000 UI vitamin D3
◼ than at 6-8 weeks intervals repeat the dose.
 Attention: Milk infant formulas are enriched
with vitamin D, 325 – 400UI/l (cow milk
content is 10-40 UI/l lipid soluble, and: 850
UI/l vitamin D hydrosoluble).

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 Prophylaxis of Rickets III
 Calcium – for special categories (premature,
children with less than 400 ml milk/day).
 In premature
◼ Administration of the milk formula for premature with an
adequate mineral content
 Similac Special Care, calcium 1452 mg/l, phosphor
806 mg/l;
 Enfamil Premature, calcium 1340mg/l, phosphor
670mg/l).
◼ When it is not possible orally nutrition is recommended
intravenous administration of calcium (50-60mg/dl),
phosphor (40-45 mg/dl) and magnesium (5-7 mg/dl)

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 Curative treatment :
 associated clinical, radiological and biological signs.
 therapeutic scheme :
Oral administration, increased doses to 2000 – 3000
UI/day, for 6-8 weeks than the prophylactic therapy.
 Attention to the risk of vitamin D intoxication
(anorexia, vomiting, hypertension, vascular
calcifications, intrarenal, renal impairment).
 It is recommended to associate a calcium supplement
0,5 – 1 g/day, in order to prevent hypocalcaemia.

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 Treatment:
 prevention and correction of bone
deformations by:
◼ Heliomarine exposure,
◼ massage,
◼ passive gymnastic.
 It is forbidden to the child with evolutive
rickets to stand up and walk.
 In forms with severe deformations, after
12-18 month of curative treatment it may
be useful gypsum or corrective osteotomy.
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 Evolution:
 Favorable (under treatment)

◼ Initially: biological normalization (in 7-10 days),

◼ after 2-3 weeks starts radiological normalization

(see photo).

◼ Clinical bone signs are the last to disappear,

after 1-2 months from initiation of the
treatment.
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  A active rickets; B healing R; C healed R
 RM = rachitic metaphisis
 C = cartilage O = osteoid
 LPC = line of preparatory calcification

 A active rickets; B, C healing R; D healed R

 ZPC = zone of preparatory calcification
 B after 12 day of treatment, C after 18, D after 29 35
 Prognostic:
 excellent
 Signs of untreated or incorrectly treated
may appear, with irreversible skeletal
deformations, dwarfism.

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Complications:
 bronco-pulmonary infections, (the motive
thoracic modifications)
 pulmonary atelectasia,
 Laryngeal spasm,
 Bronchial spasm,
 convulsions,
 prolonged QT syndrome (> 0,46”) can lead
to torsades de pointes (meaning “twisting
of the points”), increasing the risk for
sudden death.

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Hypervitaminosis D
Accidental / iatrogenic doses
Children with hypersensitivity to vitamin D
genetically conditioned (usual doses)
Symptoms rebel anorexia, vomiting,
dehydration, constipation, polyuria,
polydipsia, weakness, agitation / apathy
Laboratory findings: hypercalcemia,
hypercalciuria, nitrogen retention,
proteinuria, nephrocalcinosis, kidney failure

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Hypervitaminosis D - treatment
 Suppress administration vit D / Ca

 Lowers calcium in the diet (dieta- meat, carbohydrates, fats,

vegetable protein soy)

 Increases diuresis - infusion of saline, IV furosemide

 Calcium chelation - decrease absorption in the small

intestine (Al hydroxide)

 ± corticotherapy

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