RICKETES

1
??? ???? ?????? ??????
2
RICKETS (??????)

• Defective mineralization of the bone growth
  plate (the metaphysis).
• HISTORY
• It has been known since Romans in the 16th
  century it was classically described by Whistler
  Glisson.

3
BASIC SCIENCE BACKGROUNDS

• Bone formation is a complex process
  integrated by hormonal growth factors (matrix
  mineralization).
• At metaphysis growth is by mineralization of
  osteoid tissue is dependent on adequate calcium
  (Ca2), phosphorus (P) other elements levels
  (as magnesium, copper fluorine).
• At epiphysis diaphysis growth is by balance
  between bone resorption re-formation
  (remodeling) regulated by vitamin D,
  parathyroid hormone (PTH), growth hormone
  (through IGFs), thyroid hormones, insulin,
  glucocorticoids sex hormones (pubertal).

4
Ca2 P homeostasis

• Vitamin D (UV irradiation Dietary), activated
  by liver (25 OH-Vit.D) then by kidney
  (1,25OH2-Vit.D) by Ca2or P in plasma.
• PTH ( Ca2)

Intestinal Ca2P absorption
Bone resorption serum Ca2
Distal tubular reabsorption of Ca2
serum Ca2 Activate 1-hydroxylase
1,25OH2-Vit.D Renal acid
excretion tubular reabsorption of ( PTH) -P
phosphaturia hypopohsphatemia -Am
inoacids generalized aminoaciduria
5
PATHOGENISIS

• Deficiency of Ca2 /or P in plasma
  chondrocyte mineralization at the mataphysis
  (other elements role?).
• plasma Ca2 PTH bone
  resorption return of plasma Ca2 to N
  hyperphosphaturia plasma P.
• osteoblastic activity alkaline
  phosphatase (ALP).
• Metaphyseal growth slows bone age is retarded.
• Trabecular bone demineralization a
  greater proportion of unmineralized osteoid
  (osteomalacia).
• Epiphyseal line is irregular frayed new
  uncalcified osteoid rachitic metaphysis /-
  cortical bone fractures.

6
ETIOLOGY

• Calciopenic(2ry-PTH)
  - vit.
  D effects ( defects in diet, UV, maternal,
  hepatic or renal activation, drugs or its
  action). -
  Malabsorption ( fatty acids, phytates or Ca2/
  P).
• Phosphopenic
  - Renal (1ry
  isolated, hereditary or acquired Fanconi
  syndrome, prox. renal tubular acidosis or
  oncogenic). - P deficiency or malabsorption.
• Combined
  - Preterm
  metabolic bone disease (placento intestinal).

7
PRESENTATION

• Clinical picture depends on age associated
  disease. Age
  
  -Congenital usually none but with
  severe maternal osteomalacia neonatal
  tetany enamel defects.
  
  -Infantile(lt 1yr, /-
  preterm) craniotebes (gt 4mo), wide epiphysis
  (wrists, ankles costochonderal), boxy
  asymmetrical head, delayed teeth eruption,
  hypotonia (lax abdomen joints), delayed
  sitting, wide anterior fontanel, bow-legs,
  pigeon chest Harrison groove.
  -Toddlershort, not walking or delayed
  with deformities.
  -Adolescent Coxa vara, genu
  valgum, waddling pain.

8
PRESENTATION (Contd)
Associated disease

• -Nutritional protein-calori malnutrition(weight,m
  id-arm, s.c.fat, oedema or vit.def.) but if
  severe, rickets is mild.
• -Renal polyuria, acidosis, growth failure or eye
  signs.
• -Hepatic jaundice, steatorrhea or cirrhosis.
• -Drugs epilepsy.
• -Malabsorption ch. diarrhea, growth failure or
  vit.def.
• -Vit. D resistance alopecia or other siblings.
• -1ry hypopohsphatemia affected sisters or
  mother (XD).
• -Preterm minerals or vit. def.

9
(No Transcript)
10
(No Transcript)
11
(No Transcript)
12
(No Transcript)
13
(No Transcript)
14
COMPLICATIONS

• Deformities mild trauma fractures
  (greenstick) pelvic in girls
  difficult labor.
• Infection respiratory.
• Tetany(-Ca2)
  
  -Latent
  ve Chvostek, Trousseau peroneal
  signs.
  -Manifest
  carpopedal spasms, stridor or generalized
  convulsions but in neonates cyanosis
  or apnea.
• Associated disease tubular disorder
  dehydration malabsorption
  malnutrition.

15
INVESTIGATIONS

• Chemistery
  
  - s.ALP, but age interpreted (higher
  in growth periods).
  - s.P(phosphopenic or 2ry PTH),
  except in renal failure. -N. s.Ca2 or low when
  PTH exhaustion occurs.
  - s. 25 OH-Vit. D in vit. D deficiency
  hepatic disease. - s. 1,25OH2-Vit.D in
  renal failure if s.25OH-Vit.D .
  -Aminoaciduria in renal tubular disease 2ry
  PTH. -Glucosuria aminoaciduria in Fanconi
  syndrome.
• X-ray mineralization, epiphyseal growth
  cupping, fraying splaying of mataphysis/-deform
  ity, fracture.

16
(No Transcript)
17
(No Transcript)
18
(No Transcript)
19
(No Transcript)
20
(No Transcript)
21
(No Transcript)
22
(No Transcript)
23
(No Transcript)
24
(No Transcript)
25
DEFFERNTIAL DIAGNOSIS

• Cause of rickets(see above by response to
  treatment).
• Metaphyseal dysplasia by N. chemistry no
  fraying.
• Hypophosphatasia by s.ALP loss of teeth.
• Congenital deformities by N. chemistry x-ray.
  
  
• Vit. D deficiency by 1-6x103u. for 4-6 wk then
  lower dose judged by response till healing then
  400u./d maint.
• 6x105u. i.m. vit. D (single) for ignorant parents
  DD.
• Cause treatment, if possible.
• Prophylaxis for preterm maternal osteomalacia
  baby.

TREATMENT
26
(No Transcript)
27
(No Transcript)
28
(No Transcript)
29
(No Transcript)
30
(No Transcript)
31
REFERENCES

• 1. Forfar and Arneils textbook of paediatrics
  (1998). Campbell AGM Macintosh N (eds.), 5th
  edition, Churchil Livingstone, UK pp 301-4,
  331, 1057-8, 1194-6, 1866.
• 2. Nelson textbook of pediatrics (2000). Behrman
  RE, Kliegman RM Jenson HB (eds.), 16th edition,
  Saunders, USA pp 184-7, 1169, 1207, 1600,
  1610-1, 1829, 2133-8.
• THANK YOU