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^*

^*Corresponding author for this work

Department of Pediatric Surgery

4 Citations (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.

Original language	English
Journal	Journal of Pediatric Surgery
Volume	40
Issue number	2
ISSN	0022-3468
DOIs	https://doi.org/10.1016/j.jpedsurg.2004.10.008
Publication status	Published - 01.01.2005

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Research Areas and Centers

Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)

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10.1016/j.jpedsurg.2004.10.008

Cite this

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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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AU - Fitze, Guido

AU - Hosie, Stuart

AU - Wessel, Lukas

AU - Holland-Cunz, Stephan

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N2 - 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.

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.

UR - https://www.scopus.com/pages/publications/13844271297

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M3 - Journal articles

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VL - 40

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ER -

The combination of Hirschsprung's disease and achalasia

Abstract

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