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Food allergy in a child with de novo KAT6A mutation

Varpu Elenius1, Tuire Lähdesmäki2, Marja Hietala3

  • 1Department of Pediatrics, Turku University Hospital, Kiinamyllynkatu 4-8, 20520 Turku, Finland.

Clinical and Translational Allergy
|June 27, 2017
PubMed

Insights

Food allergy symptoms like crying and gastrointestinal issues can mimic neurological development problems. This case highlights that food allergy may cause feeding issues in children with KAT6A gene mutations.

Area of Science:

  • Pediatric Neurology
  • Clinical Immunology
  • Genetics

Background:

  • Infants with food allergy often present with gastrointestinal symptoms and crying.
  • Abnormal neurological development can also manifest with similar symptoms, complicating diagnosis.
  • Mutations in the KAT6A gene are associated with a syndrome including developmental delay and feeding problems, but these are not well-specified.

Purpose of the Study:

  • To report the first case of confirmed food allergy in a child with a KAT6A gene mutation.
  • To investigate the role of food allergy in the feeding problems experienced by children with KAT6A syndrome.
  • To emphasize the importance of considering food allergy in the differential diagnosis of feeding issues in these patients.

Main Methods:

  • A double-blind, placebo-controlled food challenge (DBPCFC) was used to diagnose food allergy.
  • An elimination diet was implemented to manage the identified food allergy.
  • Clinical presentation and diagnostic procedures were carefully documented.

Main Results:

  • A child with a KAT6A mutation was diagnosed with food allergy via DBPCFC.
  • The child's feeding problems resolved following an elimination diet.
  • This case suggests a potential link between KAT6A mutations and food allergy-related feeding difficulties.

Conclusions:

  • Food allergy should be considered in the differential diagnosis of feeding problems in children with KAT6A gene mutations.
  • Early diagnosis and management of food allergy can improve outcomes and quality of life for these children.
  • Further research is needed to establish causality and understand the prevalence of food allergy in KAT6A syndrome.

Keywords:
Feeding problemsFood allergyHistone acetylationKAT6A mutation

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