RICKETS IN CHILDREN
Sachin Soni
DNB Pediatrics
TITLE
 Vitamin D physiology
 Introduction
 Etiology
 Clinical feature
 Radiology
 Diagnosis
 Lab
 Treatment
VITAMIN D PHYSIOLOGY
 Source: -Fish, liver and oil,
- Human milk (30-40 IU/L)
- Exposure to sun light
 Vitamin D requirement:
Infants- 200IU/...
INTRODUCTION
Disease of growing bone due to unmineralized matrix at
the growth plates and occurs in children only before
f...
ETIOLOGY
 VITAMIN D DISORDERS
 Nutritional vitamin D deficiency
- Congenital vitamin D deficiency
- Secondary vitamin D ...
CALCIUM DEFICIENCY
 Low intake
 Diet
Premature infants (rickets of prematurity)
 Malabsorption
 Primary disease
- Diet...
PHOSPHORUS DEFICIENCY
 Inadequate intake
 Premature infants (rickets of prematurity)
 Aluminum-containing antacids
RENAL LOSSES
 X-linked hypophosphatemic rickets
 Autosomal dominant hypophosphatemic rickets
 Autosomal recessive hypop...
CLINICAL FEATURES OF RICKETS
 General
- Failure to thrive
- Listlessness
- Protruding abdomen
- Muscle weakness (especial...
HEAD
- Craniotabes
- Frontal bossing
- Delayed fontanel closure
- Delayed dentition; caries
- Craniosynostosis
 CHEST
- R...
BACK
- Scoliosis
- Kyphosis
- Lordosis
EXTREMITIES:
- Enlargement of wrists and ankles
-Valgus or varus deformities
-Winds...
HYPOCALCEMIC SYMPTOMS
 Tetany
 Seizures
 Stridor due to laryngeal spasm
Deformities showing curvature of
the limbs, potbelly, and Harrison
groove.
RADIOLOGY
Wrist x-rays in a
normal child (A) and
a child with
rickets (B). Child
with rickets has
metaphyseal fraying
and ...
CLINICAL EVALUATION
 Dietary history
 Cutaneous synthesis
 Maternal risk
 Medication
 Malabsorption
 Renal disease
...
NUTRITIONAL VITAMIN D DEFICIENCY
 Vitamin D deficiency is most common cause of rickets
globally
 Most common in infancy
...
LABORATORY FINDINGS
Elevated: Decreased:
Alkaline phosphatase Calcium
Parathyroid hormone Phosphorus
Dihydroxyvitamin D Hy...
Disorder Ca Pi PTH 25-(OH)D 1,25-(OH)2D ALK PHOS URINE Ca URINE Pi
Vitamin D
deficiency
N, ↓ ↓ ↑ ↓ ↓, N, ↑ ↑ ↓ ↑
VDDR, typ...
TREATMENT
 Stoss therapy – 300000 – 600000 IU Vitamin D oral or
IM, 2-4 doses over one day
 Alternatively high dose vit ...
PROGNOSIS
 Most of children have excellent prognosis
 Severe disease causing permanent deformity and
short stature
PREVENTION
 Daily multivitamin contain- 400IU vit D for infants
while 600 IU/day for older children
SECONDARY VITAMIN D DEFICIENCY
 GI diseases - Cholestatic liver disease,
- Cystic fibrosis, pancreatic dysfunction,
- Def...
TREATMENT
 high doses of vitamin D- 25-D
(25-50 g/day or 5-7g/kg/day)
 1,25-D, or with parenteral vitamin D.
 Degradati...
VITAMIN D–DEPENDENT RICKETS, TYPE 1
 Autosomal recessive disorder
 Mutations in the gene encoding renal 1α-
hydroxylase
...
VITAMIN D–DEPENDENT RICKETS, TYPE 2
 Autosomal recessive disorder
 Mutations in gene encoding vitamin D receptor
 Level...
THANK YOU
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Rickets in children

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Rickets in children

  1. 1. RICKETS IN CHILDREN Sachin Soni DNB Pediatrics
  2. 2. TITLE  Vitamin D physiology  Introduction  Etiology  Clinical feature  Radiology  Diagnosis  Lab  Treatment
  3. 3. VITAMIN D PHYSIOLOGY
  4. 4.  Source: -Fish, liver and oil, - Human milk (30-40 IU/L) - Exposure to sun light  Vitamin D requirement: Infants- 200IU/day (5mcg) Children- 400IU/day (10mcg)
  5. 5. INTRODUCTION Disease of growing bone due to unmineralized matrix at the growth plates and occurs in children only before fusion of epiphyses
  6. 6. ETIOLOGY  VITAMIN D DISORDERS  Nutritional vitamin D deficiency - Congenital vitamin D deficiency - Secondary vitamin D deficiency Malabsorption - Increased degradation - Decreased liver 25-hydroxylase -Vitamin D–dependent rickets type 1 -Vitamin D–dependent rickets type 2 - Chronic renal failure
  7. 7. CALCIUM DEFICIENCY  Low intake  Diet Premature infants (rickets of prematurity)  Malabsorption  Primary disease - Dietary inhibitors of calcium absorption
  8. 8. PHOSPHORUS DEFICIENCY  Inadequate intake  Premature infants (rickets of prematurity)  Aluminum-containing antacids
  9. 9. RENAL LOSSES  X-linked hypophosphatemic rickets  Autosomal dominant hypophosphatemic rickets  Autosomal recessive hypophosphatemic rickets  Hereditary hypophosphatemic rickets with hypercalciuria  Overproduction of phosphatonin  Tumor-induced rickets  McCune-Albright syndrome  Epidermal nevus syndrome  Neurofibromatosis  Fanconi syndrome
  10. 10. CLINICAL FEATURES OF RICKETS  General - Failure to thrive - Listlessness - Protruding abdomen - Muscle weakness (especially proximal) - Fractures
  11. 11. HEAD - Craniotabes - Frontal bossing - Delayed fontanel closure - Delayed dentition; caries - Craniosynostosis  CHEST - Rachitic rosary - Harrison groove - Respiratory infections and atelectasis
  12. 12. BACK - Scoliosis - Kyphosis - Lordosis EXTREMITIES: - Enlargement of wrists and ankles -Valgus or varus deformities -Windswept deformity (combination of valgus deformity of 1leg with varus deformity of the other leg) -Anterior bowing of the tibia and femur -Coxa vara -Leg pain
  13. 13. HYPOCALCEMIC SYMPTOMS  Tetany  Seizures  Stridor due to laryngeal spasm
  14. 14. Deformities showing curvature of the limbs, potbelly, and Harrison groove.
  15. 15. RADIOLOGY Wrist x-rays in a normal child (A) and a child with rickets (B). Child with rickets has metaphyseal fraying and cupping of the distal radius and ulna.
  16. 16. CLINICAL EVALUATION  Dietary history  Cutaneous synthesis  Maternal risk  Medication  Malabsorption  Renal disease  Family history  Physical Examination  Lab Test
  17. 17. NUTRITIONAL VITAMIN D DEFICIENCY  Vitamin D deficiency is most common cause of rickets globally  Most common in infancy  Transplacental transport of vit D provide enough vit D for first 1 to 2 months of life.  Skin pigmentation
  18. 18. LABORATORY FINDINGS Elevated: Decreased: Alkaline phosphatase Calcium Parathyroid hormone Phosphorus Dihydroxyvitamin D Hydroxyvitamin D
  19. 19. Disorder Ca Pi PTH 25-(OH)D 1,25-(OH)2D ALK PHOS URINE Ca URINE Pi Vitamin D deficiency N, ↓ ↓ ↑ ↓ ↓, N, ↑ ↑ ↓ ↑ VDDR, type 1 N, ↓ ↓ ↑ N ↓ ↑ ↓ ↑ VDDR, type 2 N, ↓ ↓ ↑ N ↑↑ ↑ ↓ ↑ Chronic renal failure N, ↓ ↑ ↑ N ↓ ↑ N, ↓ ↓ Dietary Pi deficiency N ↓ N, ↓ N ↑ ↑ ↑ ↓ XLH N ↓ N N RD ↑ ↓ ↑ ADHR N ↓ N N RD ↑ ↓ ↑ HHRH N ↓ N, ↓ N RD ↑ ↑ ↑ ARHR N ↓ N N RD ↑ ↓ ↑ Tumor-induced rickets N ↓ N N RD ↑ ↓ ↑ Fanconi syndrome N ↓ N N RD or ↑ ↑ ↓ or ↑ ↑ Dietary Ca deficiency N, ↓ ↓ ↑ N ↑ ↑ ↓ ↑
  20. 20. TREATMENT  Stoss therapy – 300000 – 600000 IU Vitamin D oral or IM, 2-4 doses over one day  Alternatively high dose vit D, 2000-5000 IU/day over 4- 6 wk  Followed by oral Vit D : < 1 year of age - 400IU > 1 years of age- 600IU  Symptomatic hypocalcemia – IV calcium gluconate 100 mg/kg followed by oral calcium or calcitrol - 0.05mcg/kg/day
  21. 21. PROGNOSIS  Most of children have excellent prognosis  Severe disease causing permanent deformity and short stature
  22. 22. PREVENTION  Daily multivitamin contain- 400IU vit D for infants while 600 IU/day for older children
  23. 23. SECONDARY VITAMIN D DEFICIENCY  GI diseases - Cholestatic liver disease, - Cystic fibrosis, pancreatic dysfunction, - Defects in bile acid metabolism, - Celiac disease, Crohn disease. intestinal - lymphangiectasia - Intestinal resection.  Severe liver disease decreases 25-D formation due to insufficient enzyme activity  vitamin D deficiency due to liver disease usually requires a loss of >90% of liver function.  Medication- Phenobarbital or phenytoin - isoniazid or rifampin.
  24. 24. TREATMENT  high doses of vitamin D- 25-D (25-50 g/day or 5-7g/kg/day)  1,25-D, or with parenteral vitamin D.  Degradation of vitamin D by the CYP system - Acute therapy as for nutritional deficiency followed by  long-term administration of high doses of vitamin D - 1,000 IU/day) as much as 4,000 IU/day
  25. 25. VITAMIN D–DEPENDENT RICKETS, TYPE 1  Autosomal recessive disorder  Mutations in the gene encoding renal 1α- hydroxylase  1st 2 yr of life  Classic features symptomatic hypocalcemia  Normal levels of 25-D  Low or normal levels of 1,25-D  Renal tubular dysfunction- Metabolic acidosis and generalized aminoaciduria  Teatment- 1,25-D (calcitriol)- 0.25-2 g/day
  26. 26. VITAMIN D–DEPENDENT RICKETS, TYPE 2  Autosomal recessive disorder  Mutations in gene encoding vitamin D receptor  Levels of 1,25-D are extremely elevated  Present during infancy, might not be diagnosed until adulthood.  50-70% of children have alopecia, range from alopecia areata to alopecia totalis.  Epidermal cysts are less common
  27. 27. THANK YOU

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