PPT ON RICKETS ( intro, definition, types, investigation and management)

1. Moderator : Dr Vishwaroop Roy ( Asst Prof )
Presenter : Dr Imran Hussain Kabir ( PGT)

2. • Rickets is a childhood disorder involving softening and weakening of the bones.
• It is a defect in mineralization of osteoid matrix caused by inadequate calcium
and phosphate deposition prior to closure of physis.
AGE GROUP :
• Rickets is common in 6 months to 3 years of age ( Infantile rickets )
• It is rarely seen in first 6 months ( Fetal rickets achondroplasia )
• Late rickets or RACHITIS TARDA - rarely seen in adolescents due to vitamin
resistance

4. • Vitamin D absorbed from the intestines or may produced by the skin
when exposed to sunlight (UV)
• Absorbed vitamin D is converted into active form, regulate calcium
absorption from intestine and calcium and phosphate levels in the
bones
• When blood levels of these minerals become low, it results in
destruction of the osteoid matrix of bones

6. • PTH facilitates the 1 alpha-Hydroxylation steps.
• Vit D deficiency state(hypocalcemia), stimulates PTH, stimulates renal
phosphorus loss, reduce deposition of calcium in the bone.

8. HEAD :
• Craniotabes
• Frontal bossing
• Delayed dentition and tooth
caries
• Delayed closure of frontanel
• Craniosynostosis

9. CHEST :
• Rachitic rosary
• Harrison’s groove
• Pectus carinatum(Pigeon chest)

10. SPINE :
• Scoliosis
• Kyphosis
• Accenuation of lumber lordosis

11. LIMBS AND JOINTS :
• Bone pain and Tenderness
• Coxa vara
• Genu valgum or varum
• Windswept deformity
• Rachitic sabar shins
• Widening of wrist, elbow,knee
and ankle

12. • Bowing of tibia, femur, radius
and ulna.
• Double malleoli sign

13. GENERAL :
• Failure to thrive
• Protuberant abdomen
• Apathy, irritability
• Prox muscle weakness
• Ligament laxity
• Symptoms of hypocalcemia
• B/L lamellar cataract

18. FINDINGS OF HEALING RICKETS :
• Reappearance of provisional zone of
calcification
• Recalcification of the spongiosa in the
metaphysis
• Dense line appears at the end of
metaphysis (FRENKELS LINE)
• Epiphyseal shadow is clearly defined
• The end of shaft and epiphysis become
clearly differentiated
• The bone appears to be normal

20. • Total calcium- N/low
• S. Phosphorous - low
• S. ALP - high
• S.25 OHCC - low
• U. Calcium - low
• ABG- Metabolic acidosis
• Aminoacidurea
• 24 Hydroxylase assay- for vit D dependent rickets
• Bone Bx - rarely performed, confirm diagnosis

22. • Medical management
• Prevention of deformities
• Treatment of existing deformities

23. A. MEDICAL MANAGEMENT
:
• Adequate intake of vit D, calcium, phosphorous
• Adequate sunlight exposure and consumption of milk, formula diets,
other dairy products
:
• Stoss therapy : 300,000-600,000 IU of vit D is administered orally or
i.m as 2-4 doses over 1 day
• Alternate therapy : High doses of vit D ranging from 2,000-5000
IU/day over 4-6 weeks
• f/b daily intake of 400IU/day

24. Before treatment and after 2 years of treatment with calcium

26. • HYPOCALCEMIA :
- oral/i.v calcium (100mg/kg of cal.gluconate as bolus dose)
-oral/i.v calcitriol (0.05 mcg/kg/day)
• It takes 2-4 weeks for Xray evidence for healing
B. PREVENTION OF DEFORMITY :
• As the bones are soft and can bend easily, child’s movements should
be controlled
• Splints can be used

27. C. TREATMENT OF ESTABLISHED DEFORMITY
SPLINTING :
• When deformity is slight and disease still active,<4 years splinting can
be helpful
OSTEOTOMY :
• When deformity is in the vicinity of a joint
• It is carried out until the radiograph indicates at least third stage of
rickets
• If attempted before this period leads to nonunion.

28. ETIOLOGY :
• MC occurs in infancy
• Poor intake and inadequate cuteneous synthesis
• Secondary to unconventional dietary habits such as unfortified soy
milk, rice milk
• Increased risk of pneumonia, muscle weakness, delayed motor
development

29. ETIOLOGY :
• Inadequate absorption - defect in metabolism of bile acid, MAS,
CF, IBD, after intestinal resection.
• Decreased hydroxylation in the liver
• Increase degredation - by P450 system
TREATMENT :
-High doses of vit D ( 25-50 mcg/day)
-Calcitriol

30. • Congenital rickets is seen with severe maternal vit D deficiency during
pregnency
• Classic rachitic changes are:
-Decreased bone ossification
-Symptomatic hypocalcemia
-IUGR

31. • AR inheritance
• Present during 1st 2 years of life
• Deficiency of 1 alpha hydroxylase enzyme
• Prevents conversion of 25 OH D3 to calcitriol
• S. 25 OH CC is normal
• S. 1,25(OH)2CC is low
• Children develops very severe rickets and secondary
hyperparathyroidism
• Long term treatment with Calcitriol ( initial dose 0.25-2 mcg/day )
• Monitored with urinary calcium excretion ( target <4 mg/kg/day )

32. • AR
• Most patients present during infancy
• Mutation in gene encoding vitamin D
• Prevents normal physiologic response to calcitriol because of end
organ resistance
• S. 1,25 (OH)2 CC - extremely elevated
• Associated with alopecia , epidermal cyst
TREATMENT : 3-6 months trial of high dose vitamin D and oral calcium

33. • Decreased activity of 1 alpha hydroxylase in kidney, diminished
production of calcitriol
• Hyperphosphatemia
• Failure to thrive, growth retardation
TREATMENT :
-Calcitriol (TOC)
-Dietary phosphorous restriction
-Phosphate binder ( Sevelamer hydrochloride )

34. • Infancy or early childhood
• Poor weaning :
-Children who are weaned from breast milk early
- Diet of these children contains less calcium
• Children who recieve parenteral nutrition without adequate calcium
• MAS : Celiac disease, abetalipoproteinemia, after small bowel
resection
TREATMENT: Calcium supplement, Vit D supplement
PREVENTION :
- Discourage early cessation of breast feeding
-Increase dietary source of calcium

35. PATHOPHYSIOLOGY :
• Prolonged starvation or severe anorexia
• Malabsorption of phoshorous ( celiac disease, CF, cholestatic liver
disease), But rickets is primarily due to malabsorption of Ca and/or
calcium
• Isolated malabsorption of phosphorous : long term use of antacids.

37. • MC genetic cause
• XLD
• Defective gene : ‘PHEX’ gene
(Phoshate-regulating gene with
homology to endopeptidases on
X chromosome )

38. LAB FINDINGS :
• High renal excretion of phosphate
• Hypophosphatemia
• Increased ALP
• PTH and S. Ca - Normal
• S. 1,25(OH)2CC - Low/N
TREATMENT :
• Combination of oral phosphorous and calcitriol
• 1-3 gm elemental phosphorous devided into 4-5 doses
• Calcitriol: 30-70 ng/kg/day devided into 2 doses

39. • Less common than XLH
• Mutation in gene encoding FGF-23
• Mutation prevents degradation of FGF-23 by proteases, leads to
increase levels of phosphatonin (FGF-23)
• S.ALP- high
• S. 1,25 (OH) CC - low/N
• Treatment - similar to XLH

40. • AR
• Phosphate wasting disorder leading to low serum phosphate levels.
• Loss of function of the SLC34A3 protein results in primary renal
tubular defect.
C/F : Rachitic leg abnormalities, muscle weakness, bone pain.
LAB FINDINGS :
• Hypophosphatemia
• S. 1,25 (OH)2 CC - Increased
• Hypercalciuria
TREATMENT : Oral phosphorous replacement ( 1-2.5 g/day in 5 dIvided
dose)