WordNet

of or related to the anus; "anal thermometer"
a stage in psychosexual development when the childs interest is concentrated on the anal region; fixation at this stage is said to result in orderliness, meanness, stubbornness, compulsiveness, etc. (同)anal retentive
an abnormal condition in which a normal opening or tube in the body (as the urethra) is closed or absent
a collection of anecdotes about a person or place

PrepTutorEJDIC

肛門(こうもん)(anus)の
(次にくる語の発音が母音で始まるときに用いる) / (子音[h]で始まり第1音節に強勢のない語の場合はanを用いることがある.ただし,この場合は[h]を発音しない)

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/06/05 11:53:59」(JST)

wiki en

An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is malformed. ARMs are a spectrum of different congenital anomalies in males and females, that varies from fairly minor lesions, as well as complex anomalies.^[1] The cause of ARMs is unknown, the genetic basis of these anomalies is very complex because of their anatomical variability, in an 8% of patients genetic factors are clearly associated with ARMs.^[2] Anorectal Malformation in Currarino syndrome represent the only association for which the gene HLXB9 has been identified.^[1]^[3]

Features

There are several forms of imperforate anus and anorectal malformations.The new classification is in relation of the type of associated fistula.^[4] The classical classification was in low,and high anomalies:

A low lesion, in which the colon remains close to the skin. In this case, there may be a stenosis (narrowing) of the anus, or the anus may be missing altogether, with the rectum ending in a blind pouch.
A high lesion, in which the colon is higher up in the pelvis and there is a fistula connecting the rectum and the bladder, urethra or the vagina.
A persistent cloaca (from the term cloaca, an analogous orifice in reptiles and amphibians), in which the rectum, vagina and urinary tract are joined into a single channel.

Imperforate anus is usually present along with other birth defects—spinal problems, heart problems, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb anomalies are among the possibilities.^[5]

Associated anomalies

Imperforate anus is associated with an increased incidence of some other specific anomalies as well, together being called the VACTERL association:

V - Vertebral anomalies
A - Anal atresia
C - Cardiovascular anomalies
T - Tracheoesophageal fistula
E - Esophageal atresia
R - Renal (kidney) and/or radial anomalies
L - Limb defects

Other entities associated with an imperforate anus are trisomies 18 and 21, the cat-eye syndrome (partial trisomy or tetrasomy of a maternally derived number 22 chromosome), Baller-Gerold syndrome, Currarino syndrome, caudal regression syndrome, FG syndrome, Johanson-Blizzard syndrome, McKusick-Kaufman syndrome, Pallister-Hall syndrome, short rib-polydactyly syndrome type 1, Townes-Brocks syndrome, urorectal septum malformation sequence, and the OEIS complex (omphalocele, exstrophy of the cloaca, imperforate anus, spinal defects).

Diagnosis

When an infant is born with an anorectal malformation, it is usually detected quickly as it is a very obvious defect. Doctors will then determine the type of birth defect the child was born with and whether or not there are any associated malformations. It is important to determine the presence of any associated defects during the newborn period in order to treat them early and avoid further sequelae. There are two main categories of anorectal malformations: those that require a protective colostomy and those that do not. The decision to open a colostomy is usually taken within the first 24 hours of birth.

Sonography can be used to determine the type of imperforate anus.^[6]

Variations

There are other forms of anorectal malformations though imperforate anus is most common. Other variants include Anterior ectopic anus.^[7] This form is more commonly seen in females and presents with constipation.^[8]

Treatment

Imperforate anus usually requires immediate surgery to open a passage for feces unless a fistula can be relied on until corrective surgery takes place. Depending on the severity of the imperforate, it is treated either with a perineal anoplasty^[9] or with a colostomy.

Prognosis

With a high lesion, many children have problems controlling bowel function and most also become constipated. With a low lesion, children generally have good bowel control, but they may still become constipated.

For children who have a poor outcome for continence and constipation from the initial surgery, further surgery to better establish the angle between the anus and the rectum may improve continence and, for those with a large rectum, surgery to remove that dilated segment may significantly improve the bowel control for the patient. An antegrade enema mechanism can be established by joining the appendix to the skin (Malone stoma); however, establishing more normal anatomy is the priority.

Epidemiology

Imperforate anus has an estimated incidence of 1 in 5000 births.^[10]^[11] It affects boys and girls with similar frequency.^[12] However, imperforate anus will present as the low version 90% of the time in females and 50% of the time in males.

Imperforate anus is an occasional complication of sacrococcygeal teratoma.^[13]

References

^ ^a ^b Holschneider, Alexander Matthias; Hutson, John M., eds. (14 November 2006). Anorectal Malformations in Children: Embryology, Diagnosis, Surgical Treatment, Follow-up. Springer. pp. 1–. doi:10.1007/978-3-540-31751-7. ISBN 978-3-540-31750-0. Retrieved 15 September 2013.
^ Moore, Samuel W (14 November 2006). "Genetics, Pathogenesis and Epidemiology of Anorectal Malformations and Caudal Regression Syndrome". In Holschneider, Alexander Matthias; Hutson, John M. Anorectal Malformations in Children: Embryology, Diagnosis, Surgical Treatment, Follow-up. Springer. pp. 31–48. doi:10.1007/978-3-540-31751-7_3. ISBN 978-3-540-31750-0. Retrieved 1 November 2013.
^ Belloni, E; Martucciello, G; Verderio, D; Ponti, E; Seri, M; Jasonni, V; Torre, M; Ferrari, M; Tsui, LC; Scherer, SW (January 2000). "Involvement of the HLXB9 homeobox gene in Currarino syndrome.". American Journal of Human Genetics 66 (1): 312–9. doi:10.1086/302723. PMC 1288336. PMID 10631160. Cite uses deprecated parameters (help)
^ Pena A, Levitt MA. (2006) "Anorectal Malformations" in: Grosfeld et al. Ed. "Pediatric Surgery", Mosly
^ Colorectal Center, Cincinnati Children's Hospital Medical Center. "Anorectal Malformations / Imperforate Anus." Retrieved July, 2005.
^ Haber HP, Seitz G, Warmann SW, Fuchs J (2007). "Transperineal sonography for determination of the type of imperforate anus". AJR. American journal of roentgenology 189 (6): 1525–9. doi:10.2214/AJR.07.2468. PMID 18029895.
^ Bill AH, Jr; Johnson, RJ; Foster, RA (February 1958). "Anteriorly placed rectal opening in the perineum ectopic anus; a report of 30 cases.". Annals of surgery 147 (2): 173–9. doi:10.1097/00000658-195802000-00005. PMC 1450565. PMID 13498637. Cite uses deprecated parameters (help)
^ Leape, LL; Ramenofsky, ML (December 1978). "Anterior ectopic anus: a common cause of constipation in children.". Journal of pediatric surgery 13 (6D): 627–30. doi:10.1016/S0022-3468(78)80105-5. PMID 731362.
^ Becmeur F, Hofmann-Zango I, Jouin H, Moog R, Kauffmann I, Sauvage P (2001). "Three-flap anoplasty for imperforate anus: results for primary procedure or for redoes". European Journal of Pediatric Surgery 11 (5): 311–4. doi:10.1055/s-2001-18555. PMID 11719868.
^ Texas Pediatric Associates. "Imperforate anus." Retrieved 13 July 2005.
^ MedLine Plus. "Imperforate anus." Retrieved 13 July 2005.
^ Adotey JM, Jebbin NJ (2004). "Anorectal disorders requiring surgical treatment in the University of Port Harcourt Teaching Hospital, Port Harcourt". Nigerian journal of medicine : journal of the National Association of Resident Doctors of Nigeria 13 (4): 350–4. PMID 15523860.
^ Bhat NA, Mathur M, Bhatnagar V (2003). "Sacrococcygeal teratoma with anorectal malformation". Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology 22 (1): 27. PMID 12617452.

External links

Medline Plus Medical Encyclopedia: Imperforate anus

UpToDate Contents

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1. 消化管閉鎖症および閉塞の出生前診断 prenatal diagnosis of gastrointestinal atresia and obstruction
2. 先天性奇形に対するアプローチ approach to congenital malformations
3. 小児における身体的診察：会陰 the pediatric physical examination the perineum
4. 新生児の評価 assessment of the newborn infant
5. 胎児腹壁破裂および総排泄腔外反症 body stalk anomaly and cloacal exstrophy

English Journal

CHARGE and Kabuki syndromes: a phenotypic and molecular link.

Schulz Y1, Freese L1, Mänz J1, Zoll B1, Völter C2, Brockmann K3, Bögershausen N4, Becker J5, Wollnik B4, Pauli S6.
Human molecular genetics.Hum Mol Genet.2014 Aug 15;23(16):4396-405. doi: 10.1093/hmg/ddu156. Epub 2014 Apr 4.
CHARGE syndrome is a complex developmental disorder caused by mutations in the chromodomain helicase DNA-binding gene CHD7. Kabuki syndrome, another developmental disorder, is characterized by typical facial features in combination with developmental delay, short stature, prominent digit pads and vi
PMID 24705355

A nationwide analysis of clinical outcomes among newborns with esophageal atresia and tracheoesophageal fistulas in the United States.

Wang B1, Tashiro J1, Allan BJ1, Sola JE1, Parikh PP1, Hogan AR1, Neville HL1, Perez EA2.
The Journal of surgical research.J Surg Res.2014 Aug;190(2):604-12. doi: 10.1016/j.jss.2014.04.033. Epub 2014 Apr 28.
BACKGROUND: The aim of this study was to examine national outcomes in newborn patients with esophageal atresia and tracheoesophageal fistula (EA/TEF) in the United Sates.METHODS: Kid's Inpatient Database (KID) is designed to identify, track, and analyze national outcomes for hospitalized children in
PMID 24881472

Spinal ultrasound in patients with anorectal malformations: is this the end of an era?

Scottoni F1, Iacobelli BD, Zaccara AM, Totonelli G, Schingo AM, Bagolan P.
Pediatric surgery international.Pediatr Surg Int.2014 Aug;30(8):829-31. doi: 10.1007/s00383-014-3546-2. Epub 2014 Jul 5.
PURPOSE: Even if lumbar magnetic resonance imaging (MRI) is considered the gold standard in the diagnosis of occult spinal dysraphism (SD) in patients with anorectal malformations (ARMs), spinal ultrasound (US) performed up to 5 months of life have been largely used as a screening test. The aim of
PMID 24996639

Japanese Journal

An Aberrant Subclavian Artery Exhibiting the Partial Steal Phenomenon in a Patient with VACTERL Association

Budincevic Hrvoje,Starcevic Katarina,Bielen Ivan,Demarin Vida
Internal Medicine 53(16), 1859-1861, 2014
… We herein report the case of a 22-year-old Caucasian man with known vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies (VACTERL) association who presented with a headache and vertigo following the sudden and temporary loss of consciousness while attending a concert four days before admission to the hospital. …
NAID 130004678415

鎖肛・肛門膣前庭瘻にMayer-Rokitansky-Kuster-Hauser症候群を合併した1例

高澤慎也,五藤周,内田広夫 [他],川嶋寛,田中裕次郎,佐藤かおり,吉田真理子,神保教広
日本小児外科学会雑誌 48(1), 68-71, 2012-02-20
女児の鎖肛のなかでも前庭瘻は比較的よくみられる病型であるが,膣欠損の合併はまれと考えられていた.今回,我々は術前に肛門膣前庭瘻と診断していたが,初回手術時に膣欠損が明らかになった1例を経験したので報告する.症例は在胎39週3日,体重2,602gで出生した女児.外見と超音波検査所見から肛門膣前庭瘻と診断した.合併奇形として複雑心奇形,唇顎口蓋裂,脊髄脂肪腫を認めた.1歳3か月にanterior sa …
NAID 110009438973

VACTERL連合が疑われた35歳完全房室ブロックの1例

藤田知香子,角田聖,坂井亮介 [他],乾将吾,田邊進一,山田千尋,小田洋平
日本内科学会雑誌 101(2), 457-460, 2012-02-10
… VACTERL連合とは，脊椎異常（V：vertebral defect），鎖肛（A：anal atresia），先天性心奇形（C：cardiac malformations），気道閉鎖を伴う気管食道瘻（T，E：tracheoesophageal fistula with esophageal atresia），橈骨および腎の異形成（R：radial dysplasia，renal dysplasia），四肢の異常（L：limb anomaly）の頭文字から成る奇形で，このうち2ないし3つ以上が併存すれば診断される1）．一方，若年発症の心臓内伝導 …
NAID 10030391702

Related Pictures

★リンクテーブル★

リンク元	「直腸肛門奇形」「VACTERL連合」
拡張検索	「congenital choanal atresia」
関連記事	「anal」「atresia」

「直腸肛門奇形」

Imperforate anus - Anorectal malformations
	Classification and external resources
	An X-ray showing imperforate anus
ICD-10	Q42.3
ICD-9	751.2
OMIM	301800 207500
MedlinePlus	001147
MeSH	D001006

　　[★]

英: anorectal malformation(SPE), anorectal anomaly
同: (国試)鎖肛 anal atresia imperforate anus、肛門閉鎖肛門閉鎖症 anal atresia
関: 肛門形成術、小児科学。小児外科。VACTERL連合

概念

直腸肛門の形成異常。

疫学

5000人に1人

病型

恥骨直腸筋係蹄のどこに直腸盲端が位置しているかで３つの群に分けられる。　(cf. 排便機能を司る筋肉：外肛門括約筋、恥骨直腸筋、内肛門括約筋)

高位　：m－lineより上方で終わる　　　　；直腸盲端が恥骨直腸筋係蹄より高位にある(小児科学第2版 p.1027)
中間位：m－lineとI－lineの中間で終わる；直腸盲端は恥骨直腸筋係蹄中にあるものの通過はしていない(小児科学第2版 p.1027)
低位　：I－lineより下方で終わる　　　　；直腸盲端が完全に恥骨直腸筋係蹄を通過している(小児科学第2版 p.1027)
特殊型：総排泄孔　croacal anomaly：女児のみの病型。正常肛門を認めず、外陰部に一つの孔、つまり、尿路の排泄口・消化管の排泄口・生殖器の開口部が共通の１孔しかない。

合併奇形

泌尿器：

男児：会陰瘻、肛門狭窄
女児：会陰・膣前庭瘻　　→　　女児の90%では膣前庭瘻を合併する低位型が90%を占める

泌尿器以外：

先天性心奇形、先天性十二指腸閉鎖、ダウン症候群　　←　　鎖肛による合併奇形の割合は50%と高い。
(合併奇形の一つとして)VACTERL連合

検査

P-C線、M線、I線を設定する。直腸盲端がP-C線とM線の間に間にあれば高位、M線とI線の間にあれば中位、I線より下にあれば低位

P-C線：恥骨陰影の中央点と仙尾関節を結ぶ線：肛門挙筋群の上端に相当
M線：P-C線とI線の中線：恥骨直腸筋の上縁に相当
I線：P-C線と平行で、坐骨陰影のコンマ状に突出した部位(I点)を通る直線：恥骨直腸筋の下縁に相当

単純X腺

倒立胃X線撮影法

Wangensteen-Rice法

生後12時間以上たってから倒立胃にして3-4分維持し側面より撮影する

尿道造影

瘻孔を通じて直腸が造影されれば人工肛門の適応

治療

PED.1029 SSUR.687

低位型：

1. 新生児期に会陰式肛門形成術を施行
2. 瘻孔をブジーなどで拡張し、生後6ヶ月前後に瘻孔を正常肛門位置に移動させる

中位型、高位型

新生児期に人工肛門造設、生後6-12ヶ月後に直頂盲端が恥骨直腸筋、深部及び表在括約筋の中央を通るように手術を施行し、人工肛門を閉鎖する。

仙骨会陰法：中位型
腹仙骨会陰型：高位型
後方矢状切開術：中位型、高位型

予後

高位ほど排便機能の手術的予後は不良

予防

参考

1. Wangensteen-Rice法の一例

http://www.szote.u-szeged.hu/radio/gyerek/agyer10c.htm

2. Wangensteen-Rice法の一例

http://www.futureme.jp/HPF/case/2/1/01011.html

「VACTERL連合」

　　[★]

英: VACTERL association
同: ヴァクタールれんごう
関: VACTER奇形症候群、VATER連合、VACTERL奇形

合併しやすい奇形の一群

VACTERL連合

脊椎異常 vertebral anomaly
肛門閉鎖 anal atresia
心臓異常 cardiac defect
気管食道瘻 tracheoesophageal fistula
食道閉鎖 esophageal atresia
腎臓異常 renal anomaly
四肢異常 limb defect

「congenital choanal atresia」

　　[★] 先天性後鼻孔閉鎖、先天性後鼻孔閉鎖症

「anal」

　　[★]

adj.

肛門の、(analytical等の略)分析

関: analyse、analyses、analysis、analytical、analyze、ani、anus、assay、dissect

「atresia」

　　[★]

(ギリシャ語 trēsis(perforation))

n.

(医)(管・孔・腔などの)閉鎖、閉鎖症

[HolschneiderHutson2006-1] Holschneider, Alexander Matthias; Hutson, John M., eds. (14 November 2006). Anorectal Malformations in Children: Embryology, Diagnosis, Surgical Treatment, Follow-up. Springer. pp. 1–. doi:10.1007/978-3-540-31751-7. ISBN 978-3-540-31750-0. Retrieved 15 September 2013.

[HolschneiderHutson2006ch3-2] Moore, Samuel W (14 November 2006). "Genetics, Pathogenesis and Epidemiology of Anorectal Malformations and Caudal Regression Syndrome". In Holschneider, Alexander Matthias; Hutson, John M. Anorectal Malformations in Children: Embryology, Diagnosis, Surgical Treatment, Follow-up. Springer. pp. 31–48. doi:10.1007/978-3-540-31751-7_3. ISBN 978-3-540-31750-0. Retrieved 1 November 2013.

[pmid10631160-3] Belloni, E; Martucciello, G; Verderio, D; Ponti, E; Seri, M; Jasonni, V; Torre, M; Ferrari, M; Tsui, LC; Scherer, SW (January 2000). "Involvement of the HLXB9 homeobox gene in Currarino syndrome.". American Journal of Human Genetics 66 (1): 312–9. doi:10.1086/302723. PMC 1288336. PMID 10631160. Cite uses deprecated parameters (help)

[4] Pena A, Levitt MA. (2006) "Anorectal Malformations" in: Grosfeld et al. Ed. "Pediatric Surgery", Mosly

[5] Colorectal Center, Cincinnati Children's Hospital Medical Center. "Anorectal Malformations / Imperforate Anus." Retrieved July, 2005.

[pmid18029895-6] Haber HP, Seitz G, Warmann SW, Fuchs J (2007). "Transperineal sonography for determination of the type of imperforate anus". AJR. American journal of roentgenology 189 (6): 1525–9. doi:10.2214/AJR.07.2468. PMID 18029895.

[pmid13498637-7] Bill AH, Jr; Johnson, RJ; Foster, RA (February 1958). "Anteriorly placed rectal opening in the perineum ectopic anus; a report of 30 cases.". Annals of surgery 147 (2): 173–9. doi:10.1097/00000658-195802000-00005. PMC 1450565. PMID 13498637. Cite uses deprecated parameters (help)

[pmid731362-8] Leape, LL; Ramenofsky, ML (December 1978). "Anterior ectopic anus: a common cause of constipation in children.". Journal of pediatric surgery 13 (6D): 627–30. doi:10.1016/S0022-3468(78)80105-5. PMID 731362.

[pmid11719868-9] Becmeur F, Hofmann-Zango I, Jouin H, Moog R, Kauffmann I, Sauvage P (2001). "Three-flap anoplasty for imperforate anus: results for primary procedure or for redoes". European Journal of Pediatric Surgery 11 (5): 311–4. doi:10.1055/s-2001-18555. PMID 11719868.

[10] Texas Pediatric Associates. "Imperforate anus." Retrieved 13 July 2005.

[11] MedLine Plus. "Imperforate anus." Retrieved 13 July 2005.

[pmid15523860-12] Adotey JM, Jebbin NJ (2004). "Anorectal disorders requiring surgical treatment in the University of Port Harcourt Teaching Hospital, Port Harcourt". Nigerian journal of medicine : journal of the National Association of Resident Doctors of Nigeria 13 (4): 350–4. PMID 15523860.

[pmid12617452-13] Bhat NA, Mathur M, Bhatnagar V (2003). "Sacrococcygeal teratoma with anorectal malformation". Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology 22 (1): 27. PMID 12617452.

Imperforate anus - Anorectal malformations
Classification and external resources
An X-ray showing imperforate anus
ICD-10	Q42.3
ICD-9	751.2
OMIM	301800 207500
MedlinePlus	001147
MeSH	D001006

匿名

検索

案内

anal atresia