WordNet

not perforated; having no opening
the excretory opening at the end of the alimentary canal

PrepTutorEJDIC

(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)
穴のあいていない / (切手に)ミシン目のない / ミシン目のない切手
肛門(こうもん)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/06/16 19:56:19」(JST)

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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 Wingspread 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.
^ 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.
^ 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. 新生児の評価 assessment of the newborn infant
4. 小児における身体的診察：会陰 the pediatric physical examination the perineum
5. 小児における便秘：病因および診断 constipation in children etiology and diagnosis

English Journal

Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2.

Salem NJ, Hempel M, Heiliger KJ, Hosie S, Meitinger T, Oexle K.SourceInstitute of Human Genetics, Klinikum rechts der Isar, Technische Universität, München, Germany.
American journal of medical genetics. Part A.Am J Med Genet A.2013 Jun;161(6):1421-4. doi: 10.1002/ajmg.a.35883. Epub 2013 Apr 23.
A full term female newborn presented with prominent forehead, bilateral microphthalmia, iris coloboma and cataract, wide intercanthal distance, large, low-set and protruding ears, skin tag at the left nasal nostril, imperforate anus with rectovestibular fistula, and postnatal growth delay with brach
PMID 23613260

Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: Experience with 80 patients.

Phillips TM, Salmasi AH, Stec A, Novak TE, Gearhart JP, Mathews RI.SourceDepartment of Urology, San Antonio Military Medical Center, 2200 Bergquist Drive, Suite 1, Lackland AFB, TX 78236, USA. Electronic address: Timothy.phillips@us.af.mil.
Journal of pediatric urology.J Pediatr Urol.2013 Jun;9(3):353-8. doi: 10.1016/j.jpurol.2012.04.017. Epub 2012 May 27.
OBJECTIVE: To review the urological management and outcomes of patients with the OEIS (omphalocele, exstrophy of the bladder, imperforate anus, spinal abnormalities) complex.PATIENTS AND METHODS: 80 patients with the OEIS complex managed at a single institution between 1974 and 2009 were reviewed.RE
PMID 22640865

Clinical and psychosocial functioning in adolescents and young adults with anorectal malformations and chronic idiopathic constipation.

Athanasakos EP, Kemal KI, Malliwal RS, Scott SM, Williams NS, Aziz Q, Ward HC, Knowles CH.SourceDepartment of Paediatric Surgery, Barts Health NHS Trust, The Royal London Hospital, London, UK.
The British journal of surgery.Br J Surg.2013 May;100(6):832-9. doi: 10.1002/bjs.9111.
BACKGROUND: Faecal incontinence (FI) and constipation occur following corrective surgery for anorectal malformations (ARMs) and in children or adults with chronic constipation without a structural birth anomaly (chronic idiopathic constipation, CIC). Such symptoms may have profound effects on qualit
PMID 23553758

Japanese Journal

Kabuki Syndrome with Multiple Associated Surgical Anomalies (Cleft Palate, Anorectal Anomaly and Diaphragmatic Hernia): Case Report and Literature Review

Journal of St. Marianna University 6(2), 303-308, 2015
NAID 130005114669

ISP-8-5 Intestinal-type adenocarcinoma possibly arising from a remnant of the rectovaginal fistula tract formed after intermediate-level imperforate anus repair(Group 8 Oncology 8,IS Poster,International Session)

日本産科婦人科學會雜誌 66(2), 941, 2014-02-01
NAID 110009813040

胆道閉鎖症術後生体肝移植後に発見された先天性気管狭窄症の1 例

日本小児外科学会雑誌 50(4), 814-817, 2014
NAID 130004624729

Related Pictures

★リンクテーブル★

リンク元

「直腸肛門奇形」

Imperforate anus - Anorectal malformations
	An X-ray showing imperforate anus
Classification and external resources
ICD-10	Q42.3
ICD-9	751.2
OMIM	301800 207500
MedlinePlus	001147
eMedicine	ped/1171 ped/2923
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

[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.

[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.

[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.

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imperforate anus