Rheumatology Book



Aka: Rickets, Infantile Osteomalacia
  1. See Also
    1. Vitamin D Deficiency
    2. Vitamin D
    3. Osteomalacia
  2. Definition
    1. Vitamin D Deficiency prior to Growth Plate closure
  3. Epidemiology
    1. Rare now in developed countries
    2. Still, however, occurs in high risk groups
      1. See Vitamin D Deficiency
  4. Risk Factors
    1. Sunlight avoidance
    2. Dark skin
      1. Melanin blocks UV penetration through skin
    3. Infant with only Breast Feeding
      1. Infant formula is supplemented with Vitamin D
    4. Calcium deficient diet
    5. Family History (hereditary form)
      1. Short Stature
      2. Alopecia
      3. Poor Dentition
      4. Bow legged
  5. Pathophysiology
    1. Bone fails to mineralize
  6. Types
    1. Nutritional Rickets (Vitamin D Deficient)
      1. Diet deficient in Vitamin D, Calcium, Phosphorus
      2. Inadequate sunlight exposure or dark skin
      3. Malabsorption (see Secondary Rickets below)
    2. Vitamin D Dependent Rickets
      1. Type I: Pseudovitamin D-deficiency Rickets
        1. Autosomal Recessive enzymatic gene defect
        2. Renal 25(OH)D3-1-a-hydroxylase deficiency
      2. Type II: Hereditary Vitamin D resistant (rare)
        1. Autosomal Recessive defect in Vitamin D receptor
        2. Distinguished by high levels of Calcitriol
    3. Vitamin D Resistant Rickets
      1. Familial Hypophosphatemic Rickets
        1. Most common inherited form
        2. X-linked phosphate regulating gene defect
      2. Hereditary Hypophosphatemic Rickets and Hypocalciuria
    4. Secondary Rickets
      1. Underlying renal disease (Renal Osteodystrophy)
      2. Malabsorption (Celiac Sprue, Cystic Fibrosis, IBD)
      3. Rickets of Prematurity
      4. Malignancy
      5. Medications (due to Hypocalcemia, Hypophosphatemia)
        1. Loop Diuretics
        2. Corticosteroids
        3. Aniconvulsants (Phenytoin)
        4. Aluminum-containing Antacids
  7. Symptoms
    1. General
      1. Irritability
      2. Diaphoresis
    2. Presentation in Infants
      1. Seizure Disorder or Tetany secondary to Hypocalcemia
    3. Presentation in Older Children
      1. Failure to Thrive or Short Stature
  8. Signs
    1. Muscular weakness and poor tone
    2. Abdominal Distention
    3. Scoliosis
    4. Rachitic Rosary (costochondral beading)
    5. Harrison's Grooves
      1. Flaring of ribs at diaphragm level
      2. Groove forms circumferentially across anterior chest
    6. Contracted Pelvis
    7. Pigeon Breast Deformity (Parrot's Bosses)
      1. Sternum projects forward
    8. Frontal bossing of skull with Craniotabes
    9. Knee angulation (Genu Valgum or genu varus)
      1. Especially genu varus in older children
    10. Wrist flaring
    11. Tooth defects
    12. Delayed closure of anterior Fontanel
    13. Osteopenia
  9. Labs: Nutritional Rickets findings
    1. Serum Calcium (ionized or with albumin): Hypocalcemia
    2. Serum Phosphate: Hypophosphatemia
    3. Serum Alkaline Phosphatase: >500 IU/dl
    4. Parathyroid Hormone increased
    5. Renal Function tests (Serum Creatinine, urea nitrogen)
    6. Serum Calcidiol decreased
    7. Urine Calcium decreased
    8. Urine Phosphorus increased
  10. Imaging: AP knee or wrist (rapidly growing long bones)
    1. Findings consistent with Rickets at metaphysis and diaphysis
      1. Cupping (scalloping) of metaphysis
      2. Fraying (tattered rope appearance) at metaphysis
      3. Widened metaphysis (splayed)
      4. Diffuse Osteopenia
    2. Differential Diagnosis (similar XRay findings)
      1. Congenital Syphilis
      2. Osteogenesis imperfecta
      3. Child Abuse
  11. Management
    1. Natural or artificial ultraviolet light exposure
    2. See Vitamin D Replacement
    3. See Calcium Supplementation (1500 mg daily)
  12. Prevention
    1. Ultraviolet light exposure for infants
      1. Diaper only: 30 minutes exposure per week
      2. Fully clothed: 2 hours per week
    2. Vitamin D Supplementation
      1. Dosing: 400 IU (10 mcg) Vitamin D daily
      2. Indication: Breast-fed infants
        1. Mothers not exposed to adequate sunlight
        2. Infants born during cold winters
  13. Resources
    1. Rickets (Radiopaedia)
      1. https://radiopaedia.org/articles/rickets
  14. References
    1. Heird in Behrman (2004) Nelson Pediatrics, p. 186-9
    2. Drezner in Goldman (2004) Cecil Medicine, p. 1555-62

Rickets (C0035579)

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

  • Has dark skin
  • Spends too little time outside
  • Has on sunscreen all the time when out of doors
  • Doesn't eat foods containing vitamin D because of lactose intolerance or a strict vegetarian diet
  • Is breastfed without receiving vitamin D supplements
  • Can't make or use vitamin D because of a medical disorder such as celiac disease

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
Croatian RAHITIS
Polish Krzywica
Hungarian Rachitis, Rachitis k.m.n., D-hypovitaminosis
Norwegian Rakitt, Engelsk syke
Derived from the NIH UMLS (Unified Medical Language System)

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