The combination of Hirschsprung's disease and achalasia

Sven Kohler; Guido Fitze; Stuart Hosie; Lukas Wessel; Stephan Holland-Cunz

doi:10.1016/j.jpedsurg.2004.10.008

The combination of Hirschsprung's disease and achalasia

Sven Kohler, Guido Fitze, Stuart Hosie, Lukas Wessel, Stephan Holland-Cunz^*

^*Korrespondierende/r Autor/-in für diese Arbeit

Klinik für Kinderchirurgie

4 Zitate (Scopus)

Abstract

The unusual combination of Hirschsprung's disease and Achalasia in one case treated by standard procedures led to the discussion about RET germ-line mutations and consequently to the speculation about higher risk for multiple endocrine neoplasia syndrome type 2-related tumors. Although a mutation could be excluded by sequence analysis in this case, the correlation of these specific diseases affords additive investigations to make sure that no further prophylactic procedures were necessary.

Originalsprache	Englisch
Zeitschrift	Journal of Pediatric Surgery
Jahrgang	40
Ausgabenummer	2
ISSN	0022-3468
DOIs	https://doi.org/10.1016/j.jpedsurg.2004.10.008
Publikationsstatus	Veröffentlicht - 01.01.2005

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Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

SDG 3 – Gesundheit und Wohlergehen

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Forschungsschwerpunkt: Gehirn, Hormone, Verhalten - Center for Brain, Behavior and Metabolism (CBBM)

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10.1016/j.jpedsurg.2004.10.008

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abstract = "The unusual combination of Hirschsprung's disease and Achalasia in one case treated by standard procedures led to the discussion about RET germ-line mutations and consequently to the speculation about higher risk for multiple endocrine neoplasia syndrome type 2-related tumors. Although a mutation could be excluded by sequence analysis in this case, the correlation of these specific diseases affords additive investigations to make sure that no further prophylactic procedures were necessary.",

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AB - The unusual combination of Hirschsprung's disease and Achalasia in one case treated by standard procedures led to the discussion about RET germ-line mutations and consequently to the speculation about higher risk for multiple endocrine neoplasia syndrome type 2-related tumors. Although a mutation could be excluded by sequence analysis in this case, the correlation of these specific diseases affords additive investigations to make sure that no further prophylactic procedures were necessary.

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The combination of Hirschsprung's disease and achalasia

Abstract

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