II. Definition
- Vitamin D Deficiency prior to Growth Plate closure
III. Epidemiology
- Rare now in developed countries
- Still, however, occurs in high risk groups
IV. Risk Factors
- Sunlight avoidance
- Dark skin
- Melanin blocks UV penetration through skin
- Infant with only Breast Feeding
- Infant formula is supplemented with Vitamin D
- Calcium deficient diet
-
Family History (hereditary form)
- Short Stature
- Alopecia
- Poor Dentition
- Bow legged
V. Pathophysiology
- Bone fails to mineralize
VI. Types
- Nutritional Rickets (Vitamin D Deficient)
- Diet deficient in Vitamin D, Calcium, Phosphorus
- Inadequate sunlight exposure or dark skin
- Malabsorption (see Secondary Rickets below)
-
Vitamin D Dependent Rickets
- Type I: Pseudovitamin D-deficiency Rickets
- Autosomal Recessive enzymatic gene defect
- Renal 25(OH)D3-1-a-hydroxylase deficiency
- Type II: Hereditary Vitamin D resistant (rare)
- Autosomal Recessive defect in Vitamin D receptor
- Distinguished by high levels of Calcitriol
- Type I: Pseudovitamin D-deficiency Rickets
-
Vitamin D Resistant Rickets
- Familial Hypophosphatemic Rickets
- Most common inherited form
- X-linked phosphate regulating gene defect
- Hereditary Hypophosphatemic Rickets and Hypocalciuria
- Familial Hypophosphatemic Rickets
- Secondary Rickets
- Underlying renal disease (Renal Osteodystrophy)
- Malabsorption (Celiac Sprue, Cystic Fibrosis, IBD)
- Rickets of Prematurity
- Malignancy
- Medications (due to Hypocalcemia, Hypophosphatemia)
- Loop Diuretics
- Corticosteroids
- Aniconvulsants (Phenytoin)
- Aluminum-containing Antacids
VII. Symptoms
-
General
- Irritability
- Diaphoresis
- Presentation in Infants
- Seizure Disorder or Tetany secondary to Hypocalcemia
- Presentation in Older Children
VIII. Signs
- Muscular weakness and poor tone
- Abdominal Distention
- Scoliosis
- Rachitic Rosary (costochondral beading)
- Harrison's Grooves
- Flaring of ribs at diaphragm level
- Groove forms circumferentially across anterior chest
- Contracted Pelvis
-
Pigeon Breast Deformity (Parrot's Bosses)
- Sternum projects forward
- Frontal bossing of skull with Craniotabes
-
Knee angulation (Genu Valgum or genu varus)
- Especially genu varus in older children
- Wrist flaring
- Tooth defects
- Delayed closure of anterior Fontanel
- Osteopenia
IX. Labs: Nutritional Rickets findings
- Serum Calcium (ionized or with albumin): Hypocalcemia
- Serum Phosphate: Hypophosphatemia
- Serum Alkaline Phosphatase: >500 IU/dl
- Parathyroid Hormone increased
- Renal Function tests (Serum Creatinine, urea nitrogen)
- Serum Calcidiol decreased
- Urine Calcium decreased
- Urine Phosphorus increased
X. Imaging: AP knee or wrist (rapidly growing long bones)
- Findings consistent with Rickets at metaphysis and diaphysis
- Cupping (scalloping) of metaphysis
- Fraying (tattered rope appearance) at metaphysis
- Widened metaphysis (splayed)
- Diffuse Osteopenia
- Differential Diagnosis (similar XRay findings)
- Congenital Syphilis
- Osteogenesis imperfecta
- Child Abuse
XI. Management
- Natural or artificial ultraviolet light exposure
- See Vitamin D Replacement
- See Calcium Supplementation (1500 mg daily)
XII. Prevention
- Ultraviolet light exposure for infants
- Diaper only: 30 minutes exposure per week
- Fully clothed: 2 hours per week
- Vitamin D Supplementation
XIII. Resources
- Rickets (Radiopaedia)
XIV. References
- Heird in Behrman (2004) Nelson Pediatrics, p. 186-9
- Drezner in Goldman (2004) Cecil Medicine, p. 1555-62
Images: Related links to external sites (from Bing)
Related Studies
Definition (CHV) | a condition caused by vitamin D deficiency |
Definition (CHV) | a condition caused by vitamin D deficiency |
Definition (CHV) | a condition caused by vitamin D deficiency |
Definition (MEDLINEPLUS) |
Rickets causes soft, weak bones in children. It usually occurs when they do not get enough vitamin D, which helps growing bones absorb important nutrients. Vitamin D comes from sunlight and food. Your skin produces vitamin D in response to the sun's rays. Some foods also contain vitamin D, including fortified dairy products and cereals, and some kinds of fish. Your child might not get enough vitamin D if he or she
In addition to dietary rickets, children can get an inherited form of the disease. |
Definition (MSH) | Disorders caused by interruption of BONE MINERALIZATION manifesting as OSTEOMALACIA in adults and characteristic deformities in infancy and childhood due to disturbances in normal BONE FORMATION. The mineralization process may be interrupted by disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis, resulting from dietary deficiencies, or acquired, or inherited metabolic, or hormonal disturbances. |
Definition (NCI) | Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities. |
Definition (CSP) | disorder of calcium and phosphorus metabolism affecting bony structures, due to a variety of defects in vitamin D, calcium, and phosphorous homeostasis, including dietary deficiencies or malabsorption. |
Concepts | Disease or Syndrome (T047) |
MSH | D012279 |
ICD10 | E55.0 |
SnomedCT | 190639009, 154728003, 41345002 |
English | Rachitides, rickets (diagnosis), rickets, Rickets NOS, Rickets [Disease/Finding], hypovitaminosis d, ricketts, rachitis, Rickets, Infantile osteomalacia, Hypovitaminosis D, Rickets (disorder), infantile; osteomalacia, osteomalacia; infantile, Rickets, NOS, Rachitis |
Dutch | rachitis NAO, hypovitaminose D, infantiel; osteomalacie, osteomalacie; infantiel, rachitis, Rachitis |
French | Rachitisme SAI, Hypovitaminose D, Rachitisme |
German | Rachitis NNB, Englische Krankheit, Hypovitaminose D, Rachitis |
Italian | Rachitismo NAS, Ipovitaminosi D, Rachitismo |
Portuguese | Raquitismo NE, Hipovitaminose D, Raquitismo |
Spanish | Raquitismo NEOM, Raquitis, Hipovitaminosis D, raquitismo (trastorno), raquitismo, Raquitismo |
Japanese | くる病, くる病NOS, クルビョウ, クルビョウNOS, ビタミンD欠乏症, ビタミンDケツボウショウ |
Swedish | Engelska sjukan |
Czech | křivice, rachitida, Rachitida, Rachitida NOS, Hypovitaminóza D |
Finnish | Riisitauti |
Russian | RAKHIT, RACHITIS, РАХИТ |
Croatian | RAHITIS |
Polish | Krzywica |
Hungarian | Rachitis, Rachitis k.m.n., D-hypovitaminosis |
Norwegian | Rakitt, Engelsk syke |