rickets in children
TRANSCRIPT
![Page 1: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/1.jpg)
RICKETS IN CHILDREN
Sachin Soni
DNB Pediatrics
![Page 2: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/2.jpg)
TITLE
Vitamin D physiology Introduction Etiology Clinical feature Radiology Diagnosis Lab Treatment
![Page 3: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/3.jpg)
VITAMIN D PHYSIOLOGY
![Page 4: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/4.jpg)
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)
![Page 5: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/5.jpg)
INTRODUCTION
Disease of growing bone due to unmineralized matrix at the growth plates and occurs in children only before fusion of epiphyses
![Page 6: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/6.jpg)
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
![Page 7: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/7.jpg)
CALCIUM DEFICIENCY
Low intake Diet
Premature infants (rickets of prematurity)
Malabsorption Primary disease
- Dietary inhibitors of calcium absorption
![Page 8: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/8.jpg)
PHOSPHORUS DEFICIENCY
Inadequate intake Premature infants (rickets of prematurity) Aluminum-containing antacids
![Page 9: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/9.jpg)
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
Dent disease Distal renal tubular acidosis
![Page 10: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/10.jpg)
CLINICAL FEATURES OF RICKETS
General
- Failure to thrive - Listlessness - Protruding abdomen - Muscle weakness (especially proximal) - Fractures
![Page 11: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/11.jpg)
HEAD
- Craniotabes - Frontal bossing - Delayed fontanel closure - Delayed dentition; caries
- Craniosynostosis CHEST
- Rachitic rosary - Harrison groove - Respiratory infections and atelectasis
![Page 12: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/12.jpg)
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
![Page 13: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/13.jpg)
HYPOCALCEMIC SYMPTOMS
Tetany Seizures Stridor due to laryngeal spasm
![Page 14: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/14.jpg)
Deformities showing curvature of the limbs, potbelly, and Harrison groove.
![Page 15: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/15.jpg)
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.
![Page 16: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/16.jpg)
CLINICAL EVALUATION
Dietary history Cutaneous synthesis Maternal risk Medication Malabsorption Renal disease Family history Physical Examination Lab Test
![Page 17: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/17.jpg)
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
![Page 18: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/18.jpg)
LABORATORY FINDINGS
Elevated: Decreased:
Alkaline phosphatase Calcium
Parathyroid hormone Phosphorus
Dihydroxyvitamin D Hydroxyvitamin D
![Page 19: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/19.jpg)
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 ↑ ↑ ↓ ↑
![Page 20: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/20.jpg)
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
![Page 21: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/21.jpg)
PROGNOSIS
Most of children have excellent prognosis Severe disease causing permanent deformity and
short stature
![Page 22: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/22.jpg)
PREVENTION
Daily multivitamin contain- 400IU vit D for infants while 600 IU/day for older children
![Page 23: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/23.jpg)
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.
![Page 24: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/24.jpg)
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
![Page 25: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/25.jpg)
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
![Page 26: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/26.jpg)
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
![Page 27: Rickets in children](https://reader033.vdocument.in/reader033/viewer/2022061618/554b34b6b4c905a2058b51ad/html5/thumbnails/27.jpg)
THANK YOU