B1 Vertaisarvioimaton kirjoitus tieteellisessä lehdessä
Food allergy in a child with de novo KAT6A mutation
Tekijät: Elenius Varpu, Lähdesmäki Tuire, Hietala Marja, Jartti Tuomas
Kustantaja: BIOMED CENTRAL LTD
Julkaisuvuosi: 2017
Journal: Clinical and Translational Allergy
Tietokannassa oleva lehden nimi: CLINICAL AND TRANSLATIONAL ALLERGY
Lehden akronyymi: CLIN TRANSL ALLERGY
Artikkelin numero: 19
Vuosikerta: 7
Sivujen määrä: 3
ISSN: 2045-7022
DOI: https://doi.org/10.1186/s13601-017-0155-x
Rinnakkaistallenteen osoite: https://research.utu.fi/converis/portal/detail/Publication/27066755
Tiivistelmä
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.
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.
Ladattava julkaisu This is an electronic reprint of the original article. |