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Food allergy in a child with de novo KAT6A mutation
Crying combined with miscellaneous gastrointestinal symptoms are typical symptoms of infant with food allergy, but are also common among children with abnormal neurological development. Mutations in KAT6A gene is known to cause a syndrome characterized by developmental delay, hypotonia, cardiac defe...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5480172/ https://www.ncbi.nlm.nih.gov/pubmed/28649320 http://dx.doi.org/10.1186/s13601-017-0155-x |
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author | Elenius, Varpu Lähdesmäki, Tuire Hietala, Marja Jartti, Tuomas |
author_facet | Elenius, Varpu Lähdesmäki, Tuire Hietala, Marja Jartti, Tuomas |
author_sort | Elenius, Varpu |
collection | PubMed |
description | Crying combined with miscellaneous gastrointestinal symptoms are typical symptoms of infant with food allergy, but are also common among children with abnormal neurological development. Mutations in KAT6A gene is known to cause a syndrome characterized by developmental delay, hypotonia, cardiac defects, microcephaly, specific facial features and early feeding problems. However, these feeding problems have not earlier been specified. We present the first reported case of a DBPCFC confirmed food allergy in a child with KAT6A mutation whose feeding problems resolved with elimination diet. The present case does not establish proof of cause, but highlights the importance of careful clinical diagnostics despite other possible causes for feeding problems. Recognizing that early feeding problems these patients regularly have might be caused by food allergy is important for outcome and quality of life for these patients. |
format | Online Article Text |
id | pubmed-5480172 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-54801722017-06-23 Food allergy in a child with de novo KAT6A mutation Elenius, Varpu Lähdesmäki, Tuire Hietala, Marja Jartti, Tuomas Clin Transl Allergy Letter to the Editor Crying combined with miscellaneous gastrointestinal symptoms are typical symptoms of infant with food allergy, but are also common among children with abnormal neurological development. Mutations in KAT6A gene is known to cause a syndrome characterized by developmental delay, hypotonia, cardiac defects, microcephaly, specific facial features and early feeding problems. However, these feeding problems have not earlier been specified. We present the first reported case of a DBPCFC confirmed food allergy in a child with KAT6A mutation whose feeding problems resolved with elimination diet. The present case does not establish proof of cause, but highlights the importance of careful clinical diagnostics despite other possible causes for feeding problems. Recognizing that early feeding problems these patients regularly have might be caused by food allergy is important for outcome and quality of life for these patients. BioMed Central 2017-06-22 /pmc/articles/PMC5480172/ /pubmed/28649320 http://dx.doi.org/10.1186/s13601-017-0155-x Text en © The Author(s) 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Letter to the Editor Elenius, Varpu Lähdesmäki, Tuire Hietala, Marja Jartti, Tuomas Food allergy in a child with de novo KAT6A mutation |
title | Food allergy in a child with de novo KAT6A mutation |
title_full | Food allergy in a child with de novo KAT6A mutation |
title_fullStr | Food allergy in a child with de novo KAT6A mutation |
title_full_unstemmed | Food allergy in a child with de novo KAT6A mutation |
title_short | Food allergy in a child with de novo KAT6A mutation |
title_sort | food allergy in a child with de novo kat6a mutation |
topic | Letter to the Editor |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5480172/ https://www.ncbi.nlm.nih.gov/pubmed/28649320 http://dx.doi.org/10.1186/s13601-017-0155-x |
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