congenital indifference to pain

WordNet

1. cause emotional anguish or make miserable; "It pains me to see my children not being taught well in school" (同)anguish, hurt
2. a symptom of some physical hurt or disorder; "the patient developed severe pain and distension" (同)hurting
3. a bothersome annoying person; "that kid is a terrible pain" (同)pain in the neck, nuisance
4. a somatic sensation of acute discomfort; "as the intensity increased the sensation changed from tickle to pain" (同)pain_sensation, painful sensation
5. emotional distress; a fundamental feeling that people try to avoid; "the pain of loneliness" (同)painfulness
6. make a light, metallic sound; go `ting
7. a light clear metallic sound as of a small bell (同)tinkle
8. cause to make a ting
9. unbiased impartial unconcern
10. present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate

PrepTutorEJDIC

1. 〈C〉〈U〉(肉体のある部分の)『苦痛』,『痛み』 / 〈U〉(精神的な)『苦痛』,心痛 / 《複数形で》骨折り,苦労,努力 / 〈C〉不快感,いやな感じ;うんざりさせるもの,やっかい者 / (肉体的・精神的に)…‘に'苦痛を与える(受動態にできない)
2. 《方向》(1)(到着の意を含めて)…『へ』,に,まで / 《状況の変化》…[のほう]へ;…に[なるまで],その結果…になる / 《適用範囲》(1)《動詞に伴って》『…に対して』,に,へ / (2)《形容詞[句]・[代]名倍に伴って》『…に対して』 / 《程度・範囲》『…[に至る]まで』 / 《時間の終り》『…まで』(till) / 《to one's+『名』の形で》(…が)『…したことに[は]』 / 《比較・対比・割合》『…と比べて』,より,に対して / 《一致・適合》『…に合わせて』,に合って,に応じて / 《目的・意図》『…のために』 / 《運命・境遇》『…に』 / 《所属・関係》『…へ』,に[対して] / 《付加・付着・固執》『…に』 / 《対立・対向》…に[対して] / いつもの状態(位置)に / 停止(閉鎖)の状態に / 活動状態に(へ),仕事に
3. 《名詞的用法》『…すること』 / 《形容詞的用法》『…するための,すべき』 / 《副詞的用法》『…するために』,して,するとは,すれば / 《独立用法》 / 《文全体を修飾する慣用語句》…すれば,してみると,…だが / 短縮文
4. …‘を'チリンチリナ(リンリン)と鳴らす / チリンチリン鳴る宴
5. (…に対する)『無関心』,むとんじゃく,冷淡・《+『to』(『toward』)+『名』》 / (…にとって)重要でないこと,ささいなこと《+『to』+『名』》
6. (病気・身体的欠陥など)生まれつきの,先天的な

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/08/23 16:57:43」(JST)

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Congenital insensitivity to pain
Classification and external resources
OMIM	243000 147430
DiseasesDB	31214
MeSH	D000699

Congenital insensitivity to pain (CIP), also known as congenital analgesia, is one or more rare conditions in which a person cannot feel (and has never felt) physical pain. The conditions described here are separate from the HSAN group of disorders, which have more specific signs and etiology. Despite sounding beneficial, it is actually an extremely dangerous condition.

Presentation

Play media

A patient and doctor discuss congenital insensitivity to pain

For patients with this disorder, cognition and sensation are otherwise normal; for instance, patients can still feel discriminative touch (though not always temperature), and there are no detectable physical abnormalities.

Children with this condition often suffer oral cavity damage both in and around the oral cavity (such as having bitten off the tip of their tongue) or fractures to bones. Unnoticed infections and corneal damage due to foreign objects in the eye are also seen. Because the child cannot feel pain, they may not respond to problems, thus being at a higher risk of more severe diseases.

Causes

There are some cases where the condition is caused by increased production of endorphins in the brain, in which case naloxone may be used as treatment. This treatment does not always work. In all cases, this disorder can be in the voltage-gated sodium channel SCN9A (Na_v1.7). Patients with such mutations are congenitally insensitive to pain and lack other neuropathies. There are three mutations in SCN9A: W897X, located in the P-loop of domain 2; I767X, located in the S2 segment of domain 2; and S459X, located in the linker region between domains 1 and 2. This results in a truncated non-functional protein. Na_v1.7 channels are expressed at high levels in nociceptive neurons of the dorsal root ganglia. As these channels are likely involved in the formation and propagation of action potentials in such neurons, it is expected that a loss of function mutation in SCN9A will lead to abolished nociceptive pain propagation.

PRDM12 gene is normally switched on during the development of pain-sensing nerve cells. People with homozygous mutations of the PRDM12 gene experience congenital insensitivity to pain (CIP).

Developmental disorders such as autism and related autistic-spectrum disorders such as pervasive developmental disorder and Asperger's Syndrome can include varying degrees of pain insensitivity as a sign. However, since these disorders are characterized by dysfunction of the sensory system in general, this specific condition is not in itself an indicator of any of these conditions.

Types of congenital pain indifference

There are generally two types of non-response exhibited.

• Insensitivity to pain means that the painful stimulus is not even perceived: a patient cannot describe the intensity or type of pain.
• Indifference to pain means that the patient can perceive the stimulus, but lacks an appropriate response: they will not flinch or withdraw when exposed to pain.

Incidence

It is found in Vittangi, a village in Kiruna Municipality in northern Sweden, where nearly 40 cases have been reported. A few Americans also have it.

See also

• Hereditary sensory and autonomic neuropathy
  • Familial dysautonomia
  • Congenital insensitivity to pain with anhidrosis
• Hypoalgesia

References

External links

• The Hazards of Growing Up Painlessly By JUSTIN HECKERT, New York Times, November 15, 2012. Profile of Ashlyn Blocker, 13, who has congenital insensitivity to pain.
• www.thefactsofpainlesspeople.com

UpToDate Contents

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• 1. 最後の数週間における疼痛の評価およびマネージメント pain assessment and management in the last weeks of life
• 2. 背部痛が認められる小児の評価 evaluation of the child with back pain
• 3. 成人における肘痛の評価 evaluation of elbow pain in adults
• 4. 小児および思春期における腰痛：原因の概要 back pain in children and adolescents overview of causes
• 5. 性交痛を有する女性へのアプローチ approach to the woman with sexual pain

English Journal

• Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.

• Leipold E1, Hanson-Kahn A2,3, Frick M3, Gong P3, Bernstein JA2, Voigt M4, Katona I5, Oliver Goral R1, Altmüller J6,7, Nürnberg P6,8,9, Weis J5, Hübner CA4, Heinemann SH1, Kurth I4.
• Nature communications.Nat Commun.2015 Dec 8;6:10049. doi: 10.1038/ncomms10049.
• Gain-of-function mutations in the human SCN11A-encoded voltage-gated Na(+) channel NaV1.9 cause severe pain disorders ranging from neuropathic pain to congenital pain insensitivity. However, the entire spectrum of the NaV1.9 diseases has yet to be defined. Applying whole-exome sequencing we here ide
• PMID 26645915

• Endogenous opioids contribute to insensitivity to pain in humans and mice lacking sodium channel Nav1.7.

• Minett MS1, Pereira V1, Sikandar S1, Matsuyama A1, Lolignier S1, Kanellopoulos AH1, Mancini F2, Iannetti GD2, Bogdanov YD1, Santana-Varela S1, Millet Q1, Baskozos G3, MacAllister R4, Cox JJ1, Zhao J1, Wood JN1.
• Nature communications.Nat Commun.2015 Dec 4;6:8967. doi: 10.1038/ncomms9967.
• Loss-of-function mutations in the SCN9A gene encoding voltage-gated sodium channel Nav1.7 cause congenital insensitivity to pain in humans and mice. Surprisingly, many potent selective antagonists of Nav1.7 are weak analgesics. We investigated whether Nav1.7, as well as contributing to electrical si
• PMID 26634308

Japanese Journal

• Case of congenital indifference to pain with anhidrosis using sympathetic skin response as a useful supportive diagnostic method in the early stage of infancy

• Pediatrics international : official journal of the Japan Pediatric Society 44(4), 436-439, 2002-08-01
• NAID 50000598840

• 先天性無痛覚症

• Pain
• NAID 10009490984

• 先天性無痛覚症

• PAIN
• NAID 130004651840

Related Links

• Congenital Indifference to Pain - National Center for ...

FARQUHAR HG, SUTTON T. Congenital indifference to pain. Lancet. 1951 Apr 14; 1 (6659):827–828. [PubMed] LEYS DG. Congenital indifference to pain. Proc R Soc Med. 1950 Mar; 43 (3):250–250. [PMC free article] [PubMed] ...

• Congenital indifference to pain - RightDiagnosis.com

Congenital indifference to pain symptoms, causes, diagnosis, and treatment information for Congenital indifference to pain (Congenital insensitivity to pain syndrome) with alternative diagnoses, full-text book chapters, misdiagnosis ...

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★リンクテーブル★

リンク元	「先天性無痛症」「先天無痛症」「先天性無痛覚症」「congenital pain insensitivity」
関連記事	「pain」「congenita」「ting」「indifference」「toed」

「先天性無痛症」

　　[★]

英

congenital indifference to pain、congenital pain insensitivity

関

先天性無痛覚症、先天無痛症、先天性無痛覚

「先天無痛症」

　　[★]

英

congenital indifference to pain

関

先天性無痛覚症、先天性無痛症

「先天性無痛覚症」

　　[★]

英

congenital indifference to pain

関

先天性無痛症、先天無痛症

「congenital pain insensitivity」

　　[★]

先天性無痛覚、先天性無痛症

関

congenital indifference to pain

「pain」

　　[★]

• n.

• 疼痛

http://dictionary.reference.com/browse/pain

• n.

• physical suffering or distress, as due to injury, illness, etc.
• a distressing sensation in a particular part of the body
• mental or emotional suffering or torment
• pains,

• laborious or careful efforts; assiduous care
• the suffering of childbirth.

　 　 　 　 　 　

「congenita」

　　[★]

• adj.

• (後置するラテン語形容詞)先天性の

関

congenital、congenitally

• ex.

• dyskeratosis congenita、myotonia congenita

「ting」

　　[★]

• vi.

• (鈴などが)チリンチリンと鳴る

• vt.

• (鈴などを)チリンチリンと鳴らす

• n.

• (鈴などの)チリンチリンと鳴る音

「indifference」

　　[★]

• n.

• 無関心

関

indifferent、unconcern、unconcerned

　 　

「toed」

　　[★]

• adj.

• 足指のある、つま先のある、(くぎを)斜めに打ち込んだ