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__NOTOC__
__NOTOC__
{{Infobox Disease
| Name        = Rickets
| ICD10      = {{ICD10|E|55| |e|50}}
| ICD9        = {{ICD9|268}}
| Image      =  Rickets USNLM.gif
| Caption    =  A family with rickets. Paris, 1900.
| DiseasesDB    = 9351
| MedlinePlus    = 000344
| MeshName      = Rickets
| MeshNumber    = D012279
}}
{{SI}}
{{CMG}}
{{CMG}}


{{Editor Help}}
==Overview==
 
'''Rickets''' is a softening of the bones in children potentially leading to fractures and deformity.  Rickets is among the most frequent childhood diseases in many developing countries. The predominant cause is a [[vitamin D]] deficiency, but lack of adequate [[calcium]] in the diet may also lead to rickets. Although it can occur in adults, the majority of cases occur in children suffering from severe [[malnutrition]], usually resulting from [[famine]] or [[starvation]] during the early stages of childhood.
[[Osteomalacia]] is the term used to describe a similar condition occurring in adults, generally due to a deficiency of vitamin D.
The origin of the word "rickets" is unknown.  The Greek derived word "rachitis" (meaning "inflammation of the spine") was later adopted as the scientific term for rickets, due chiefly to the words' similarity in sound.
 
==Epidemiology==
[[Image:Rickets wrist.jpg|thumb|left|"rachitis" The "wrist widening" of rickets]]
Those at higher risk for developing rickets include:
*Breast-fed infants whose mothers are not exposed to sunlight
*Breast-fed infants who are not exposed to sunlight
*Individuals not consuming fortified milk, such as those who are [[lactose intolerant]]
 
Individuals with red hair  have a decreased risk for rickets due to their greater production of vitamin D in sunlight.<ref>[http://www.derm.med.ed.ac.uk/06_teaching/redhairgen.htm Red hair and genetics]</ref>
 
==Etiology==
Vitamin D is required for proper calcium absorption from the gut. In the absence of vitamin D, dietary calcium is not properly absorbed, resulting in [[hypocalcemia]], leading to skeletal and dental deformities and [[neuromuscular]] symptoms, e.g. hyperexcitability.
 
A rare [[X-linked dominant]] form exists called [[X-linked hypophosphatemia|Vitamin D resistant rickets]].
 
==Presentation==
[[Image:XrayRicketsLegssmall.jpg|thumb|left|[[Radiograph]] of a two-year old rickets sufferer, with a marked [[genu varum]] (bowing of the [[femur]]s) and decreased bone [[opacity]], suggesting poor [[bone mineralization]].|right]]
Signs and symptoms of rickets include:
*Bone pain or tenderness
*[[tooth|dental]] problems
*[[muscle]] weakness (rickety myopathy or "floppy baby syndrome")
*increased tendency for [[fracture]]s (easily broken bones), especially [[greenstick fracture]]s
*Skeletal deformity
**Toddlers: Bowed legs ([[genu varum]])
**Older children: Knock-knees ([[genu valgum]]) or "windswept knees"
**Cranial, spinal, and pelvic deformities
*Growth disturbance
*[[Hypocalcemia]] (low level of calcium in the blood), and
*[[Tetany (medical sign)|Tetany]] (uncontrolled muscle spasms all over the body).
*[[Craniotabes]] (soft skull)
*[[Costochondral]] swelling (aka "[[rickety rosary]]" or "[[rachitic rosary]]")
*[[Harrison's groove]]
*Double malleoli sign due to metaphyseal hyperplasia [http://medicalpics.blogspot.com/2007/04/double-malleoli-sign-of-rickets.html]
 
An [[X-ray]] or [[radiography|radiograph]] of an advanced sufferer from rickets tends to present in a classic way: bow legs (outward curve of long bone of the legs) and a deformed chest. Changes in the skull also occur causing a distinctive "square headed" appearance. These deformities persist into adult life if not treated.
 
Long-term consequences include permanent bends or disfiguration of the long bones, and a [[Scoliosis|curved back]].
 
==Diagnosis==
A doctor may diagnose rickets by:
 
*Blood tests:     
**Serum [[calcium]] may show low levels of calcium, serum [[phosphorus]] may be low, and serum [[alkaline phosphatase]] may be high.
*[[Arterial blood gas]]es may reveal [[metabolic acidosis]] 
*[[X-ray]]s of affected bones may show loss of calcium from bones or changes in the shape or structure of the bones.
*Bone biopsy is rarely performed but will confirm rickets.
 
'''Patient #1: Radiographs of the knee in a patient with rickets'''
<gallery>
Image:Rickets-001.jpg
Image:Rickets-002.jpg
</gallery>
 
'''Patient #2:  Radiographs of the knee in a patient with rickets'''
<gallery>
Image:
 
Rickets-201.jpg


==Overview==
Image:
{{Infobox_Disease
 
  | Name          = Vitamin B6 deficiency
Rickets-202.jpg
| Image         =  
 
| Caption        =  
</gallery>
| DiseasesDB    = 13923
 
| ICD10          = {{ICD10|E|53|1|e|50}}
'''Patient #3: Radiograph of the chest in a patient with rickets'''
| ICD9          = {{ICD9|266.1}}
<gallery>
| ICDO          =  
Image:
| OMIM          =
 
| MedlinePlus    =
Rickets-301.jpg
| eMedicineSubj  = med
 
| eMedicineTopic = 1977
</gallery>
| MeshID        = D026681
 
}}
==Ricketts: Microscopical Findings==
{{SI}}
{{#ev:youtube|y7iA0_jkOTI}}
The classic clinical syndrome for '''Pyridoxine deficiency''' (or '''B6 deficiency''') is a seborrheic dermatitis-like eruption, atrophic glossitis with ulceration, angular cheilitis, conjunctivitis, intertrigo, and neurologic symptoms of somnolence, confusion, and neuropathy.<ref>Andrews' Diseases of the Skin, 10th Edition, Elsevier.</ref>
==Treatment and prevention==
===Diet and sunlight===
[[Image:Cholecalciferol.png|thumb|left|[[Cholecalciferol]] (D3)]]
[[Image:Ergocalciferol.png|thumb|left|[[Ergocalciferol]] (D2)]]
Treatment involves increasing dietary intake of calcium, phosphates and vitamin D. Exposure to ultraviolet light (sunshine), [[cod liver oil]], halibut-liver oil, and [[Ergosterol|viosterol]] are all sources of vitamin D.


Vitamin B6 is a co-factor for glutamic acid decarboxylase, an enzyme that converts Glutamate to GABATherefore, the concurrent increase in the excitatory neurotransmitter, Glutamate, and decrease in inhibitory neurotransmitter, GABA, resultant from B6 deficiency, may manifest itself in the form of seizures.
A sufficient amount of ultraviolet in sunlight each day and adequate supplies of calcium and phosphorus in the diet can prevent rickets. Darker-skinned babies need to be exposed longer to the [[ultraviolet|ultraviolet rays]]The replacement of vitamin D has been proven to correct rickets using these methods of [http://pediatrics.aappublications.org/cgi/content/full/112/2/e132 ultraviolet light therapy]and medicine.


==Causes==
Recommendations are for 200 [[international unit]]s (IU) of vitamin D a day for infants and children. Children who do not get adequate amounts of vitamin D are at increased risk of ricketsVitamin D is essential for allowing the body to uptake calcium for use in proper bone calcification and maintenance.
*Supporters of a debated medical condition known as [[Pyroluria]] believe it may be one potential cause of vitamin B6 deficiency.  
*Another cause of vitamin B6 deficiency is the use of the tuberculostatic medication [[isoniazid]], and for this reason, it is recommended to supplement with vitamin B6 when using this drug.   
*Grumpiness and irritability are also often symptomatic of a deficiency according to "Body, Mind, and the B Vitamins" by Ruth Adams and Frank Murray.
*A [[meta-analysis]] of three databases ([[MEDLINE]], [[EMBASE]], and [[Cochrane Library]]), including only [[double-blind]], randomized controlled trials, found that vitamin B6 has a significant effect compared to [[placebo]]s in treating [[morning sickness]], similar to that of [[ginger]].<ref>[http://www.medicalnewstoday.com/medicalnews.php?newsid=22469 Pregnancy Morning Sickness - Ginger as Effective as Vitamin B6 (open)] [http://www.greenjournal.org/cgi/content/abstract/105/4/849 Effectiveness and Safety of Ginger in the Treatment of Pregnancy-Induced Nausea and Vomiting (subscription)], Borrelli ''et al.'',  ''Obstetrics & Gynecology'', 2005;105:849-856</ref>


===Diagnostic Testing for B6 Deficiency===
===Supplementation===
A positive diagnosis test for pyridoxine deficiency can be assertained by measuring [[erythrocyte]] levels of [[aspartate aminotransferase]] and transketolase in [[blood plasma|serum]].
Sufficient vitamin D levels can also be achieved through dietary supplementation.  Vitamin D3 ([[cholecalciferol]]) is the preferred form since it is more readily absorbed than vitamin D2.  Most [[dermatology|dermatologists]] recommend vitamin D supplementation as an alternative to unprotected ultraviolet exposure due to the increased risk of skin cancer associated with sun exposure.


== Differential Diagnosis ==
According to the [[American Academy of Pediatrics]] (AAP), infants who are breast-fed may not get enough vitamin D from breast milk alone. For this reason, the AAP recommends that infants who are exclusively breast-fed receive daily supplements of vitamin D from age 2 months until they start drinking at least 17 ounces of vitamin D-fortified milk or formula a day [http://aappolicy.aappublications.org/cgi/content/full/pediatrics;111/4/908]. This requirement for supplemental vitamin D is not a defect in the evolution of human breastmilk but is instead a result of the modern-day infant's decreased exposure to sunlight.
*Advanced Age
*Alcoholism
*Catabolic state
*[[Celiac Disease]]
*[[Chronic Renal Failure]]
*Drugs- [[Isoniazid]]
*Extrahepatic biliary obstruction
*Hemodialysis
*[[Hepatocellular Carcinoma]]
*[[Hepatitis]]
*Hospitalization
*Hyperoxaluria
*Kidney transplant
*Peritoneal dialysis
*Severe malnutrition <ref>Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:310</ref>


==References==
== References ==
{{reflist|2}}
{{reflist|2}}
<references/>


== External links ==
*[http://aappolicy.aappublications.org/cgi/content/full/pediatrics;111/4/908 AAP Recommendations on Vitamin D Supplementation]
*[http://courses.washington.edu/bonephys/hypercalU/opmal2.html Dr. Susan Ott's website on osteomalacia]
*[http://www.healthvitaminsguide.com/deficiencies/rickets.htm Rickets - Symptoms, Causes, Treatment]
*[http://dictionary.reference.com/search?q=osteomalacia Dictionary.com - Osteomalacia]
*[http://www.fluoridealert.org/health/bone/fluorosis/osteomalacia.html Fluoride & Osteomalacia]
*[http://www.beyonddiscovery.org/content/view.txt.asp?a=414 History of Vitamin D and the battle against Rickets]
* {{Chorus|00906}}


{{SIB}}
{{Nutritional pathology}}
{{Nutritional pathology}}


[[Category:Malnutrition]]
[[Category:Pediatrics]]
[[Category:Skeletal disorders]]
[[Category:Gastroenterology]]
[[Category:Gastroenterology]]
[[de:Rachitis]]
[[es:Raquitismo]]
[[fi:Riisitauti]]
[[fr:Rachitisme]]
[[ko:구루병]]
[[it:Rachitismo]]
[[ja:くる病]]
[[nl:Rachitis]]
[[no:Rakitt]]
[[pl:Krzywica]]
[[pt:Raquitismo]]
[[ru:Рахит]]
[[simple:Rickets]]
[[sv:Rakitis]]
[[tr:Raşitizm]]
[[zh:佝僂病]]


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Revision as of 14:29, 3 June 2016

Rickets
A family with rickets. Paris, 1900.
ICD-10 E55
ICD-9 268
DiseasesDB 9351
MedlinePlus 000344
MeSH D012279

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Rickets is a softening of the bones in children potentially leading to fractures and deformity. Rickets is among the most frequent childhood diseases in many developing countries. The predominant cause is a vitamin D deficiency, but lack of adequate calcium in the diet may also lead to rickets. Although it can occur in adults, the majority of cases occur in children suffering from severe malnutrition, usually resulting from famine or starvation during the early stages of childhood. Osteomalacia is the term used to describe a similar condition occurring in adults, generally due to a deficiency of vitamin D. The origin of the word "rickets" is unknown. The Greek derived word "rachitis" (meaning "inflammation of the spine") was later adopted as the scientific term for rickets, due chiefly to the words' similarity in sound.

Epidemiology

"rachitis" The "wrist widening" of rickets

Those at higher risk for developing rickets include:

  • Breast-fed infants whose mothers are not exposed to sunlight
  • Breast-fed infants who are not exposed to sunlight
  • Individuals not consuming fortified milk, such as those who are lactose intolerant

Individuals with red hair have a decreased risk for rickets due to their greater production of vitamin D in sunlight.[1]

Etiology

Vitamin D is required for proper calcium absorption from the gut. In the absence of vitamin D, dietary calcium is not properly absorbed, resulting in hypocalcemia, leading to skeletal and dental deformities and neuromuscular symptoms, e.g. hyperexcitability.

A rare X-linked dominant form exists called Vitamin D resistant rickets.

Presentation

Radiograph of a two-year old rickets sufferer, with a marked genu varum (bowing of the femurs) and decreased bone opacity, suggesting poor bone mineralization.

Signs and symptoms of rickets include:

An X-ray or radiograph of an advanced sufferer from rickets tends to present in a classic way: bow legs (outward curve of long bone of the legs) and a deformed chest. Changes in the skull also occur causing a distinctive "square headed" appearance. These deformities persist into adult life if not treated.

Long-term consequences include permanent bends or disfiguration of the long bones, and a curved back.

Diagnosis

A doctor may diagnose rickets by:

Patient #1: Radiographs of the knee in a patient with rickets

Patient #2: Radiographs of the knee in a patient with rickets

Patient #3: Radiograph of the chest in a patient with rickets

Ricketts: Microscopical Findings

{{#ev:youtube|y7iA0_jkOTI}}

Treatment and prevention

Diet and sunlight

Cholecalciferol (D3)
Ergocalciferol (D2)

Treatment involves increasing dietary intake of calcium, phosphates and vitamin D. Exposure to ultraviolet light (sunshine), cod liver oil, halibut-liver oil, and viosterol are all sources of vitamin D.

A sufficient amount of ultraviolet in sunlight each day and adequate supplies of calcium and phosphorus in the diet can prevent rickets. Darker-skinned babies need to be exposed longer to the ultraviolet rays. The replacement of vitamin D has been proven to correct rickets using these methods of ultraviolet light therapyand medicine.

Recommendations are for 200 international units (IU) of vitamin D a day for infants and children. Children who do not get adequate amounts of vitamin D are at increased risk of rickets. Vitamin D is essential for allowing the body to uptake calcium for use in proper bone calcification and maintenance.

Supplementation

Sufficient vitamin D levels can also be achieved through dietary supplementation. Vitamin D3 (cholecalciferol) is the preferred form since it is more readily absorbed than vitamin D2. Most dermatologists recommend vitamin D supplementation as an alternative to unprotected ultraviolet exposure due to the increased risk of skin cancer associated with sun exposure.

According to the American Academy of Pediatrics (AAP), infants who are breast-fed may not get enough vitamin D from breast milk alone. For this reason, the AAP recommends that infants who are exclusively breast-fed receive daily supplements of vitamin D from age 2 months until they start drinking at least 17 ounces of vitamin D-fortified milk or formula a day [3]. This requirement for supplemental vitamin D is not a defect in the evolution of human breastmilk but is instead a result of the modern-day infant's decreased exposure to sunlight.

References


External links

Template:Nutritional pathology

de:Rachitis fi:Riisitauti ko:구루병 it:Rachitismo nl:Rachitis no:Rakitt simple:Rickets sv:Rakitis


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