Die Ösophagusatresie – von der Herausforderung in der Pränatalmedizin bis zur chirurgischen Versorgung

Zusammenfassung

Bei der Ösophagusatresie kommt es zu einer Hemmungsfehlbildung der Speiseröhre mit oder ohne Verbindung zur angrenzenden Trachea. Eine pränatale Diagnostik mittels Ultraschalluntersuchungen ist durch die indirekten Hinweiszeichen relativ unspezifisch und nur als eine Verdachtsdiagnose möglich. Neben dem gleichzeitigen Vorliegen eines Polyhydramnions sowie der wiederholt nicht möglichen Darstellung einer Magenblase, bzw. zu kleiner Magenblase, bestärkt das Vorliegen eines sog. „Pouch-sign“ die Verdachtsdiagnose. Eine MRT erhöht die pränatale Detektionsrate. Aufgrund der fehlenden sicheren sonografischen Marker, neben der möglichen direkten Darstellung des Ösophagus, sollten Ultraschallkontrollen in der Schwangerschaft durchgeführt werden. Insbesondere sollten kategorisch weitere mögliche Ursachen eine Polyhydramnions ausgeschlossen werden. Postnatal fallen die Kinder mit der klassischen Symptomatik auf. Die operative Versorgung ermöglicht den Betroffenen eine sehr gute Lebensqualität und Prognose. Eine lebenslange Observation und Begleitung ist notwendig.

Abstract

Oesophageal atresia causes a dysplasia of the oesophagus with or without a connection to the adjoining trachea. Prenatal ultrasound results are not specific enough to confirm a suspected diagnosis. In addition to polyhydramnios and a small or absent stomach, the so-called “pouch sign” reinforces the suspected diagnosis. An MRI increases the prenatal detection rate. Due to the lack of reliable sonografic markers, ultrasonic testing is advised during pregnancy. Particularly, further causes for the polyhydramnios should be categorically excluded. Postnatally, children present with classic symptoms. Surgical treatment results in a very high quality of life and a very good prognosis. Nevertheless lifelong monitoring and follow-up of the patient is required.

Schlüsselwörter

Ösophagusatresie - Polyhydramnion - Pouch-sign - Magenblase - tracheoösophageale Fistel - angeborene Fehlbildung

Key words

Esophageal Atresia - Polyhydramnios - Stomach - Prenatal Ultrasound - Congenital Malformation - Laparoscopy

• Literatur

• 1 Garabedian C, Vaast P, Bigot J. et al. Esophageal atresia: prevalence, prenatal diagnosis and prognosis. J Gynecol Obstet Biol Reprod (Paris) 2014; 43: 424-430
• 2 Gottrand F, Sfeir R, Coopman S. et al. Outcome of children with repaired oesophageal atresia. Arch Pediatr 2008; 15: 1837-1842
• 3 Houben CH, Curry JI. Current status of prenatal diagnosis, operative management and outcome of esophageal atresia/tracheo-esophageal fistula. Prenat Diagn 2008; 28: 667-675
• 4 Holland AJ, Fitzgerald DA. Oesophageal atresia and tracheo-oesophageal fistula: current management strategies and complications. Paediatr Respir Rev 2010; 11: 100-106 quiz 106–107
• 5 Durston W. A narrative of a monstrous birth in plymouth, Octobre 22, 1670: Together with the anatomical observation taken thereupon, Philos Trans R Soc. 1670; 5 1670–1671 and 2096–2098
• 6 Vogt E. Congenital esophageal atresia. Amer J Roentgenol 1929; 22: 463-465
• 7 Oddsberg J, Jia C, Nilsson E. et al. Influence of maternal parity, age, and ethnicity on risk of esophageal atresia in the infant in a population-based study. J Pediatr Surg 2008; 43: 1660-1665 doi:10.1016/j.jpedsurg.2007.11.021
• 8 Vermes G, Mátrai Á, Czeizel AE. et al. Maternal factors in the origin of isolated oesophageal atresia: A population-based case-control study. Birth Defects Res A Clin Mol Teratol. 2015; 103: 804-813. doi:10.1002/bdra.23383. Epub 2015 May 28
• 9 Spitz L. Oesophageal atresia. Orphanet J Rare Dis 2017; 2: 24 doi:10.1186/1750-1172-2-24
• 10 Arzt W, Steiner H.. Gastroistestinaltrakt und Bauchdecke in Gembruch U, Hecher K, Steiner H (Hrsg.) Ultraschalldiagnostik in Gynäkologie und Geburtshilfe, DOI 10.1007/978-3-642-29633-8_10. Springer-Verlag Berlin Heidelberg; 2013
• 11 Nicolaides K, Snijders R, Cheng H. et al. Fetal gastrointestinal and abdominal wall defects. Associated malformations and chromosomal anomalies, Fetal Diagn Ther 1992; 7: 102-115
• 12 Pedersen RN, Calzolari E, Husby S. et al. Oesophageal atresia: prevalence, prenatal diagnosis and associated anomalies in 23 European regions. Arch Dis Child. 2012; 97: 227-232. doi:10.1136/archdischild-2011-300597. Epub 2012 Jan 13.
• 13 Rokitansky A, Kolankaya A, Bichler B. et al. Analysis of 309 cases of esophageal atresia for associated congenital malformations. Am J Perinatol 1994; 11: 123-128
• 14 Singh A, Bajpai M, Bhatnagar V. et al. Effect of number of associated anomalies on outcome in oesophageal atresia with or without tracheoesophageal fistula patient. Afr J Paediatr Surg 2013; 10: 320-322. doi:10.4103/0189-6725.125430
• 15 Geneviève D, de Pontual L, Amiel J. et al. An overview of isolated and syndromic oesophageal atresia. Clin Genet 2007; 71: 392-399
• 16 Blaas HGK, Eik-Nes SH, Kiserud T. et al. Early development of the abdominal wall, stomach and heart from 7 to 12 weeks of gestatio: a longitudinal ultrasound study. Ultrasound Obstet Gynecol 1995; 6: 240-249
• 17 Castori M, Rinaldi R, Capocaccia P. et al. VACTERL association and maternal diabetes: a possible causal relationship?. Birth Defects Res A Clin Mol Teratol 2008; 82: 169-172. doi:10.1002/bdra.20432
• 18 Blaas HGK, Eik-Nes SH. Sonographic development of the normal foetal thorax and abdomen across gestation. Prenat Diagn. 2008; 28: 568-580 doi:10.1002/pd.1963
• 19 Yagel S, Sonigo P, Rousseau V. et al. Esophageal atresia diagnosed with three-dimensional ultrasonography. Ultrasound Obstet Gyecol 2005; 26: 307-208
• 20 Stringer MD, McKenna KM, Goldstein RB. et al. Prenatal diagnosis of esophageal atresia. J Pediatr Surg 1995; 30: 1258-1263
• 53 Brantberg A, Blass HGK, Haugen SE. et al. Esophageal obstruction – prenatal detection rate and outcome. Ultrasound Obstet Gynecol 2007; 30: 180-187
• 43 Garabedian C, Sfeir R, Langlois C. et al. Does prenatal diagnosis modify neonatal treatment and early outcome of children with esophageal atresia?. Am J Obstet Gynecol 2015; 212: 340.e1-7 doi:10.1016/j.ajog.2014.09.030 Epub 2014 Sep 28
• 21 Choudhary M, Boyd PA, Chamberlain PF. et al. Prenatal diagnosis of tracheo-oesophageal fistula and oesophageal atresia. Prenat Diagn 2007; 27: 608-610
• 22 Hansmann M, Hackelör BJ, Staudach A. Ultraschalldiagnostik in Geburtshilfe und Gynäkologie. Springer-Verlag; Berlin, Heidelberg: 1985
• 23 Hoopmann M, Arand J, Kirschner HJ. et al. Pränatale Magengröße bei Feten mit Ösophagusatresie. Ultraschall in Med 2012; 33 - A718 Kongressbeitrag
• 24 Hoopmann M, Wagner P, Arand J. et al. Biometrie des Magen bei Feten mit Ösophagusatresie Geburtshilfe Frauenheilkd. 2014; 74 - PO_Geb01_04 Kongressbeitrag
• 25 Hoopmann M, Kagan KO, Borgmeier F. et al. Measurement of Gastric Circumference in Feotuses with Oesophageal Atresia. Geburtsh Frauenheilk 2015; 75: 1148-1152
• 26 Kagan KO, Starz S, Abele H. et al. Risiko für fetale Fehlbildungen bei Polyhydramnion unklarer Genese im dritten Trimenon. Z Geburtshilfe Neonatol 2011; 215-FV04_02 Kongressbeitrag
• 27 Sase M, Asada H, Okua M. et al. Fetal gastric size in normal and abnormal pregnancies. Ultrasound Obstet Gynecol 2002; 19: 467-470
• 28 Ekselius J, Salö M, Arnbjörnsson E. et al. Treatment and Outcome for Children with Esophageal Atresia from a Gender Perspective. Surgery Research and Practice. Volume 2017, Article ID 8345798, 6 pages
• 29 De Jong EM, Haan MAM, Gischler SJ. et al. Pre- and postnatal diagnosis and outcome of fetuses and neonates with esophageal atresia and tracheoesophageal fistula. Prenat Diagn 2010; 30: 274-279
• 30 Kunisaki SM, Bruch SW, Hirschl RB. et al. The diagnosis of fetal esophageal atresia and its implications on perinatal outcome. Pediatr Surg Int 2014; 30: 971-977. doi:10.1007/s00383-014-3562-2 Epub 2014 Jul 24
• 31 Spaggiari E, Faure G, Rousseau V. et al. Performance of prenatal diagnosis in esophageal atresia. Prenat Diagn 2015; 35: 888-893. doi:10.1002/pd.4630 Epub 2015 Jul 6
• 32 Kalache KD, Wauer R, Mau H. et al. Prognostic significance of the pouch sign in fetuses with prenatally diagnosed esophageal atresia. J Obstet Gynecol 2000; 182: 978-981
• 33 Has R, Gunay S, Topuz S. Pouch sign in prenatal diagnosis of esophageal atresia. Ultrasound Obstet Gynecol 2004; 23: 523-524
• 34 Kalache KD, Chaoui R, Mau H. et al. The upper neck pouch sign: a prental sonographic marker for esophageal atresia. Ultrasound Obstet Gynecol 1998; 11: 138-140
• 35 Shulman A, Mazkereth R, Zalel Y. et al. Prenatal identification of esophageal atresia: the role of ultrasonography for evaluation of functional anatomy. Prenat Diagn. 2002; 22: 669-674
• 36 Solt I, Rotmensch S, Bronshtein M. The esophageal „pouch sign“: A benign transient finding. Prenat Diagn 2010; 30: 845-848. doi:10.1002/pd.2568
• 37 Salomon LJ, Sonigo P, Ou P. et al. Real-time fetal magnetic resonance imaging for the dynamic visualization of the pouch in esophageal atresia. Ultrasound Obstet Gynecol 2009; 34: 471-474
• 38 Blondin D, Turowski B, Schaper J. Fetal MRI. Rofo 2007; 179: 111-118
• 39 Langer JC, Hussain H, Khan A. et al. Prenatal diagnosis of esophageal atresia using sonography and magnetic resonance imaging. J Pediatr Surg 2001; 36: 804-807
• 40 Ethun CG, Fallon SC, Cassady CI. et al. Fetal MRI improves diagnostic accuracy in patients referred to a fetal center for suspected esophageal atresia. J Pediatr Surg 2014; May 49: 712-715 doi:10.1016/.j.jpedsurg.2014.02.053. Epub 2014 Feb 22
• 41 Hochart V, Verpillat P, Langlois C. et al. The contribution of fetal MRI imaging tot he assessment of oesophageal atresia. Eur Radiol 2015; 25: 306-314. doi:10.1007/s00330-014-3444-y Epub 2014 Oct 11
• 42 Garabedian C, Verpillat P, Czerkiewicz I. et al. Does a combination of ultrasound, MRI, and biochemical amniotic fluid analysis imrpove prenatal diagnosis of esophageal atresia?. Prenat Diagn 2014 Sep 34: 839-842. doi:10.1002/pd.4376 Epub 2014 Apr 25
• 44 Leitlinie S2k „kurzstreckige Ösophagusatresie“ 2012. Deutsche Gesellschaft für Kinderchirurgie. Online unter www.AWMF.de 21.12.2016
• 45 Czerkiewicz I, Dreux S, Beckmezian A. et al. Biochemical amniotic fluid pattern fot prenatal diagnosis of esophageal atresia. Pediatr Res 2011; 70: 199-202
• 46 Muller C, Czerkiewicz I, Guimiot F. et al. Specific biochemical amniotic fluid pattern of fetal isolated esophageal atresia. Pediatr Res 2013; 74: 601-605
• 47 Morin PR, Melancon SB. Dallaire et al. Prenatal detection of intestinal obstructions, aneuploidy syndromes, and cystic fibrosis by microvillar enzyme assays (dissaccharides, alkaline phosphatase and glutamyltransferase) in amniotic fluid. Am J Genet 1987; 26: 405-415
• 48 Garabedian C, Vaast P, Verpillat P. et al. Prenatal diagnosis of esophageal atresia: A case of triple negative screening. J Gynecol Obstet. Hum Reprod. 2018; pii: S2468-7847(18)30341-6 [Epub ahead of print]
• 49 Brown RN, Nicolaides KH. Increased fetal nuchal translucency: possible association with esophageal atresia. Ultrasound Obstet Gynecol 2000; 15: 531-532
• 50 Tracy S, Buchmiller TL, Ben-Ishay O. et al. The Distended Fetal Hypopharynx: A Sensitive and Novel Sign for the Prenatal Diagnosis of Esophageal Atresia. J Pediatr Surg 2018; pii: S0022-3468(18)30158-1. [Epub ahead of print]
• 51 Quarello E, Saada J, Desbriere R. et al. Prenatal diagnosis and evaluation of defect length in esophageal atresia using direct and indirect (tracheal print) signs. Ultrasound Obstet Gynecol. 2011; 38: 225-228. doi:10.1002/uog.8888 Epub 2011 Jun 27
• 52 Haeusler MC, Berghold A, Stoll C. et al. Prenatal ultrasonographic detection of gastrointestinal obstruction results from 18 European congenital anomaly registries. Prenat Diagn 2002; 22: 616-623
• 54 Bradshaw CJ, Thakkar H, Knutzen L. et al. Accuracy of prenatal detection of tracheoesophageal fistula and oesophageal atresia. J Pediatr Surg. 2016 Aug 51: 1268-1272. doi:10.1016/j.jpedsurg.2016.02.001 Epub 2016 Feb 8
• 55 Lal DR, Gadepalli SK, Downard CD. et al. Challenging surgical dogma in the management of proximal esophageal atresia with distal tracheoesophageal fistula: Outcomes from the Midwest Pediatric Surgery Consortium. J Pediatr Surg 2016; pii:S0022-3468(16)30597-8 [Epub ahaed of print]
• 56 Pini Prato A, Carlucci M, Bagolan P. et al. A cross-sectional nationwide survey on esophageal atresia and tracheoesophageal fistula. J Pediatr Surg. 2015; 50: 1441-1456. doi:10.1016/j.jpedsurg.2015.01.004 Epub 2015 Jan 16
• 57 Haight C, Towsley HA. Congenital atresia of the esophagus with tracheoesphageal fistula. Extrapleural ligation of fistula and end-to-end anastomosis of esophageal segment. Surg. Gynecol. Obstet 1943; 76: 672-688
• 58 Petrosyan M, Estrada JJ, Giuliani S. et al. Gastric perforation and pancreatitis manifesting after an inadvertent nissen fundoplication in a patient with superior mesenteric artery syndrome. Case Rep Med. 2009; Epub 2009 Aug 27
• 59 Lacher M, Kuebler JF, Dingemann J. et al. Minimal invasive surgery in the newborn: Current status and evidence. Sem Ped Surg 2014; 23: 249-256
• 60 Wu Y, Kuang H, Lv T. et al. Comparison of clinical outcomes between open and thoracoscopic repair for esophageal atresia with tracheoesophageal fistula: a systematic review and meta-analysis. Pediatr Surg Int. 2017; 33: 1147-1157. doi:10.1007/s00383-017-4153-9 Epub 2017 Sep 15
• 61 Lacher M, Froehlich S, von Schweinitz D. et al Early and Long Term Outcome in Children with Esophageal Atresia Treated Over the Last 22 Years. Klin Padiatr 2010; 222: 1-6
• 62 Bastard F, Bonnard A, Rousseau V. et al Thoracic skeletal anomalies following surgical treatment of esophageal atresia. Lessons from a national cohort. J Pediatr Surg 2018; Apr 53 (4) 605-609 doi:10.1016/j.jpedsurg.2017.07.013 Epub 2017 Jul 21
• 63 Rintala RJ, Pakarinen MP. Long-term outcome of esophageal anastomosis. Eur J Pediatr Surg 2013; 23: 219-225
• 64 Dingemann C, Dietrich J, Zeidler J. et al. Early complications after esophageal atresia repair: analysis of a German health insurance database covering a population of 8 milion. Dis Esophagus. 2015;
• 65 Vergouwe FWT, Vlot J, IJsselstijn H. et al. Risk factors for refractory anastomotic strictures after oesophageal atresia repair: a multicentre study. Risk factors for refractory anastomotic strictures after oesophageal atresia repair: a multicentre study. Arch Dis Child 2018; pii: archdischild-2017-314710 [Epub ahead of print]
• 66 Burjonrappa SC, Youssef S, St-Vil D. What is the incidence of Barrett's and gastric metaplasia in esophageal atresia/tracheoesophageal fistula (EA/TEF) patients?. Eur J Pediatr Surg 2011; 21: 25-29
• 67 Deurloo JA, van Lanschot JB, Drillenburg P. et al. Esophageal Squamous Cell Carcinoma 38 Years After Primary Repair of Esophageal Atresia. J Pediatr Surg 2001; 36: 629-630
• 68 https://keks.org/online am 11.10.2018
• 69 https://ern-ernica.eu/about-ern/ern-ernica/online am 11.10.2018
• 70 Leibovitch L, Zohar I, Maayan-Mazger A. et al. Infants born with esophageal atresia with or without tracheo-esophageal fistula: short and log-term outcomes. Isr Med Assoc J 2018; 20: 161-166
• 71 Bastard F, Bonnard A, Rousseau V. et al. Thoracic skeletal anomalies following surgical treatment of esophageal atresia. Lessons from a national cohort. J Pediatr Surg 2018; 53: 605-609. doi:10.1016/j.jpedsurg.2017.07.013 Epub 2017 Jul 21
• 72 Lacher M, Froehlich S, von Schweinitz D. et al. Early and Long Term Outcome in Children with Esophageal Atresia Treated Over the Last 22 Years. Klin Padiatr 2010; 222: 1-6
• 73 Lawal TA, Gosemann JH, Kuebler JF. et al. Thoracoscopy versus thoracotomy improves midterm musculoskeletal status and cosmesis in infants and children. Ann Thorac Surg 2009; 87: 224-228. doi:10.1016/j.athoracsur.2008.08.069
• 74 Foker JE, Linden BC, Boyle Jr EM. et al. Development of a true primary repair for the full spectrum of esophageal atresia. Ann Surg 1997; 226: 533-543
• 75 Wang B, Tashiro J, Allan BJ. et al. A nationwide analysis of clinical outcomes among newborns with esophageal atresia and tracheoesophageal fistulas in the United States. J Surg Res 2014; 190: 604-612
• 76 Zimmer J, Eaton S, Murchison LE. et al. State of Play: Eight Decades of Surgery for Esophageal Atresia. Eur J Pediatr Surg 2018; [Epub ahead of print]
• 77 Spitz L, Kiely EM, Morecroft JA. et al. Oesophageal atresia: at-risk groups for the 1990s. J Pediatr Surg 1994; 29: 723-725
• 78 Driver CP, Shankar KR, Jones MO. et al. Phenotypic presentation and outcome of esophageal atresia in the era of the Spitz classification. J Pediatr Surg 2001; 36: 1419-1421. doi:10.1053/jpsu.2001.26389
• 79 Sfeir R, Bonnard A, Khen-Dunlop N. et al. Esophageal atresia: Data from a national cohort. 2013 Volume 48, Issue 8, Pages 1664–1669
• 80 Nomura A, Yamoto M, Fukumoto K. et al. Evaluation of developmental prognosis for esophageal atresia with tracheoesophageal fistula. Pediatr Surg Int. 2017; 33: 1091-1095. doi:10.1007/s00383-017-4142-z Epub 2017 Aug 12
• 81 Gottrand F, Sfeir R, Coopman S. et al. Outcome of children with repaired oesophageal atresia. Arch Pediatr 2008; 15: 1837-1842
• 82 Li XW, Jiang YJ, Wang XQ. et al. A scoring system to predict mortality in infants with esophageal atresia: A case-control study. Medicine (Baltimore) 2017; 96: e7755. doi:10.1097/MD.0000000000007755
• 83 Friedmacher F, Kroneis B, Huber-Zeyringer A. et al. Postoperative Complications and Functional Outcome after Esophageal Atresia Repair: Results from Longitudinal Single-Center Follow-Up. J Gastrointest Surg. 2017; 21: 927-935. doi:10.1007/s11605-017-3423-0 Epub 2017 Apr 19.
• 84 Rintala RJ, Sistonen S, Pakarinen MP. Outocme of oesophageal atresia beyond childhood. J Pediatr Gastroenterolog Nutr 2011; 52 (Suppl. 01) S35-S36
• 85 Koivusalo A, Pakarinen MP, Turunen P. et al. Health-related quality of life in adult patients with esophageal atresia: a questionaire study. J Pediatr Surg 2005; 40: 307-312
• 86 Deurloo JA, Ekkelkamp S, Hartmann FE. et al. Quality of life in adult survivors of correction of esophageal atresia. Arch Surg 2005; 140: 976-980
• 87 Little DC, Rescorla FJ, Grosfeld JL. et al. Long-term analysis of children with esophageal atresia and traechooesophageal fistula. J Pediatr Surg 2003; 38: 852-856
• 88 Legrand C, Michaud L, Salleron J. et al. Long-term outcome of children with oesophageal atresia type III. Arch Dis Child 2012; 97: 808-811
• 89 Gischler SJ, van der Cammen-van Zijp MH, Mazer P. et al. A prospective comparative evaluation of persistent respiratory morbidity in esophageal atresia and congenital diaphragmatic hernia survivors. J Pediatr Surg 2009; 44: 1683-1690
• 90 Hölscher AC, Laschat M, Choinitzki V. et al. Quality of Life after Surgical Treatment for Esophageal Atresia: Long-Term Outcome of 154 Patients. Eur J Pediatr Surg. 2017; 27: 443-448. doi:10.1055/s-0036-1597956 Epub 2017 Jan 6
• 91 Netzwerk Erwachsener mit erkrankter Speiseröhre (NEKS) online am 24.12.2016 unter http://www.neksdeutschland.org/NEKS_Bilder/NEKS_Broschuere/131218_NEKS_Broschuere_100dpi.pdf