草稿:Currarino症候群

Currarino 症候群
Currarino 症候群
異名	Currarino 三聯征
	X片顯示肛門閉鎖
分類和外部資源
	[編輯此條目的維基數據]

Currarino症候群是一種遺傳性先天性疾病，其特徵是骶骨發育不良、骶前包塊及肛門直腸畸形^[1]。患病率約為1/100000。 ^[2]

骶前包塊可有不同的表現。骶前脊膜膨出是 Currarino 症候群患者中最常見的骶前包塊（占 60%），可能顯著影響此類患者的手術治療。 ^[3] ^[4] 其他骶前包塊包括骶前畸胎瘤和腸源性囊腫。骶前畸胎瘤通常被認為是一種骶尾部畸胎瘤的變體，然而，Currarino 症候群特有的骶前畸胎瘤可能並非一種骶尾部畸胎瘤，而是一種特定類型。 ^[5]

遺傳學特徵

本疾病是一種常染色體顯性遺傳疾病^[6]，由HLXB9同源框基因突變引起。 2000 年，首個大型病例系列研究對 Currarino 症候群患者進行了 HLXB9 突變基因篩查，結果顯示，該基因是導致該症候群的特異性原因，但不是導致其他形式的骶骨發育不全的病因 ^[7]。

診斷

庫拉里諾症候群的診斷通常基於臨床，檢測是否滿足三聯征的全部特徵。此外，基因檢測通常被用作確診和患者家屬的基因分析。 ^[8] ^[9]

治療

僅在極少數情況下，即病變占位可能會導致便秘或影響懷孕分娩時，才需要進行手術。若為椎管與結腸之間存在瘺管，則必須直接手術。 ^[10]

建議進行早期診斷和多學科評估，以制定適當的治療方案。 ^[11]

通過準確的評估，可以通過單次手術進行正確的外科手術治療。 ^[12]

就手術入路和預後而言，Currarino 症候群與肛門直腸畸形 (ARM) 的常規治療相似，而預後主要取決於相關骶骨發育不良的程度。 ^[13]

參見

肛門閉鎖

參考

^ 龐文博 , 王凱 , 張丹 , 吳東陽 , 齊翔 , 陳亞軍. 小儿Currarino综合征的诊治经验. 中華小兒外科雜誌. 2022 [2025/02/14]. doi:10.3760/cma.j.cn421158-20210918-00452.
^ Weber, Stefanie; Dávila, Magdalena. German approach of coding rare diseases with ICD-10-GM and Orpha numbers in routine settings. Orphanet Journal of Rare Diseases. 2014, 9 (Suppl 1): O10. ISSN 1750-1172. PMC 4249588 . doi:10.1186/1750-1172-9-s1-o10 .
^ Emans, Pieter J.; van Aalst, Jasper; van Heurn, Ernest L.W.; Marcelis, Carlo; Kootstra, Gauke; Beets-Tan, Regina G.H.; Vles, Johannes S.H.; Beuls, Emile A.M. The Currarino Triad: Neurosurgical Considerations. Neurosurgery. 2006-05-01, 58 (5): 924–929. ISSN 0148-396X. PMID 16639328. S2CID 45316326. doi:10.1227/01.neu.0000209945.87233.6a.
^ Samuel, M.; Hosie, G.; Holmes, K. Currarino triad—Diagnostic dilemma and a combined surgical approach. Journal of Pediatric Surgery. December 2000, 35 (12): 1790–1794. CiteSeerX 10.1.1.603.4599 . ISSN 0022-3468. PMID 11101738. doi:10.1053/jpsu.2000.19258.
^ Gopal M, Turnpenny PD, Spicer R. Hereditary sacrococcygeal teratoma--not the same as its sporadic counterpart!. Eur J Pediatr Surg. June 2007, 17 (3): 214–6. PMID 17638164. S2CID 260135903. doi:10.1055/s-2007-965121.
^ Ashcraft KW; Holder TM. Hereditary presacral teratoma. J. Pediatr. Surg. October 1974, 9 (5): 691–7. PMID 4418917. doi:10.1016/0022-3468(74)90107-9.
^ Belloni, E; Martucciello, G; Verderio, D; Ponti, E; Seri, M; Jasonni, V; Torre, M; Ferrari, M; Tsui, LC; Scherer, SW. Involvement of the HLXB9 homeobox gene in Currarino syndrome.. American Journal of Human Genetics. January 2000, 66 (1): 312–9. PMC 1288336 . PMID 10631160. doi:10.1086/302723.
^ AbouZeid, Amr Abdelhamid; Mohammad, Shaimaa Abdelsattar; Abolfotoh, Mohammad; Radwan, Ahmed Bassiouny; Ismail, Mohamed Mohamed ElSayed; Hassan, Tarek Ahmed. The Currarino triad: What pediatric surgeons need to know. Journal of Pediatric Surgery. August 2017, 52 (8): 1260–1268. PMID 28065719. doi:10.1016/j.jpedsurg.2016.12.010 （英語）.
^ Garcia-Barceló, Mercè; So, Man-ting; Lau, Danny Ko-chun; Leon, Thomas Yuk-yu; Yuan, Zheng-wei; Cai, Wei-song; Lui, Vincent Chi-hang; Fu, Ming; Herbrick, Jo-Anne; Gutter, Emily; Proud, Virginia. Population Differences in the Polyalanine Domain and 6 New Mutations in HLXB9 in Patients with Currarino Syndrome. Clinical Chemistry. 2006-01-01, 52 (1): 46–52. ISSN 0009-9147. PMID 16254195. doi:10.1373/clinchem.2005.056192  （英語）.
^ Emans PJ, van Aalst J, van Heurn EL, Marcelis C, Kootstra G, Beets-Tan RG, Vles JS, Beuls EA. The Currarino triad: neurosurgical considerations. Neurosurgery. 2006, 58 (5): 924–9; discussion 924–9. PMID 16639328. S2CID 45316326. doi:10.1227/01.NEU.0000209945.87233.6A.
^ Samuel M, Hosie G, Holmes K. Currarino triad--diagnostic dilemma and a combined surgical approach. J Pediatr Surg. Dec 2000, 35 (12): 1790–4. CiteSeerX 10.1.1.603.4599 . PMID 11101738. doi:10.1053/jpsu.2000.19258.
^ Crétolle C, Zérah M, Jaubert F, Sarnacki S, Révillon Y, Lyonnet S, Nihoul-Fékété C. New clinical and therapeutic perspectives in Currarino syndrome (study of 29 cases). J Pediatr Surg. 2006, 41 (1): 126–31; discussion 126–31. PMID 16410121. doi:10.1016/j.jpedsurg.2005.10.053.
^ AbouZeid AA, Mohammad SA, Abolfotoh M, Radwan AB, Ismail MME, Hassan TA. The Currarino triad: What pediatric surgeons need to know. J Pediatr Surg. 2017, 52 (8): 1260–1268. PMID 28065719. doi:10.1016/j.jpedsurg.2016.12.010.

[1] 龐文博 , 王凱 , 張丹 , 吳東陽 , 齊翔 , 陳亞軍. 小儿Currarino综合征的诊治经验. 中華小兒外科雜誌. 2022 [2025/02/14]. doi:10.3760/cma.j.cn421158-20210918-00452.

[2] Weber, Stefanie; Dávila, Magdalena. German approach of coding rare diseases with ICD-10-GM and Orpha numbers in routine settings. Orphanet Journal of Rare Diseases. 2014, 9 (Suppl 1): O10. ISSN 1750-1172. PMC 4249588 . doi:10.1186/1750-1172-9-s1-o10 .

[3] Emans, Pieter J.; van Aalst, Jasper; van Heurn, Ernest L.W.; Marcelis, Carlo; Kootstra, Gauke; Beets-Tan, Regina G.H.; Vles, Johannes S.H.; Beuls, Emile A.M. The Currarino Triad: Neurosurgical Considerations. Neurosurgery. 2006-05-01, 58 (5): 924–929. ISSN 0148-396X. PMID 16639328. S2CID 45316326. doi:10.1227/01.neu.0000209945.87233.6a.

[4] Samuel, M.; Hosie, G.; Holmes, K. Currarino triad—Diagnostic dilemma and a combined surgical approach. Journal of Pediatric Surgery. December 2000, 35 (12): 1790–1794. CiteSeerX 10.1.1.603.4599 . ISSN 0022-3468. PMID 11101738. doi:10.1053/jpsu.2000.19258.

[pmid17638164-5] Gopal M, Turnpenny PD, Spicer R. Hereditary sacrococcygeal teratoma--not the same as its sporadic counterpart!. Eur J Pediatr Surg. June 2007, 17 (3): 214–6. PMID 17638164. S2CID 260135903. doi:10.1055/s-2007-965121.

[pmid4418917-6] Ashcraft KW; Holder TM. Hereditary presacral teratoma. J. Pediatr. Surg. October 1974, 9 (5): 691–7. PMID 4418917. doi:10.1016/0022-3468(74)90107-9.

[pmid10631160-7] Belloni, E; Martucciello, G; Verderio, D; Ponti, E; Seri, M; Jasonni, V; Torre, M; Ferrari, M; Tsui, LC; Scherer, SW. Involvement of the HLXB9 homeobox gene in Currarino syndrome.. American Journal of Human Genetics. January 2000, 66 (1): 312–9. PMC 1288336 . PMID 10631160. doi:10.1086/302723.

[8] AbouZeid, Amr Abdelhamid; Mohammad, Shaimaa Abdelsattar; Abolfotoh, Mohammad; Radwan, Ahmed Bassiouny; Ismail, Mohamed Mohamed ElSayed; Hassan, Tarek Ahmed. The Currarino triad: What pediatric surgeons need to know. Journal of Pediatric Surgery. August 2017, 52 (8): 1260–1268. PMID 28065719. doi:10.1016/j.jpedsurg.2016.12.010 （英語）.

[9] Garcia-Barceló, Mercè; So, Man-ting; Lau, Danny Ko-chun; Leon, Thomas Yuk-yu; Yuan, Zheng-wei; Cai, Wei-song; Lui, Vincent Chi-hang; Fu, Ming; Herbrick, Jo-Anne; Gutter, Emily; Proud, Virginia. Population Differences in the Polyalanine Domain and 6 New Mutations in HLXB9 in Patients with Currarino Syndrome. Clinical Chemistry. 2006-01-01, 52 (1): 46–52. ISSN 0009-9147. PMID 16254195. doi:10.1373/clinchem.2005.056192  （英語）.

[10] Emans PJ, van Aalst J, van Heurn EL, Marcelis C, Kootstra G, Beets-Tan RG, Vles JS, Beuls EA. The Currarino triad: neurosurgical considerations. Neurosurgery. 2006, 58 (5): 924–9; discussion 924–9. PMID 16639328. S2CID 45316326. doi:10.1227/01.NEU.0000209945.87233.6A.

[11] Samuel M, Hosie G, Holmes K. Currarino triad--diagnostic dilemma and a combined surgical approach. J Pediatr Surg. Dec 2000, 35 (12): 1790–4. CiteSeerX 10.1.1.603.4599 . PMID 11101738. doi:10.1053/jpsu.2000.19258.

[12] Crétolle C, Zérah M, Jaubert F, Sarnacki S, Révillon Y, Lyonnet S, Nihoul-Fékété C. New clinical and therapeutic perspectives in Currarino syndrome (study of 29 cases). J Pediatr Surg. 2006, 41 (1): 126–31; discussion 126–31. PMID 16410121. doi:10.1016/j.jpedsurg.2005.10.053.

[13] AbouZeid AA, Mohammad SA, Abolfotoh M, Radwan AB, Ismail MME, Hassan TA. The Currarino triad: What pediatric surgeons need to know. J Pediatr Surg. 2017, 52 (8): 1260–1268. PMID 28065719. doi:10.1016/j.jpedsurg.2016.12.010.

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