Background:
Celiac disease is an immune-mediated disorder characterized by variable
clinical manifestations, specific antibodies, HLA-DQ2/DQ8 haplotypes, and enteropathy.
Objectives:
The aim of this study was to present the clinical spectrum and patterns of celiac disease
in Kosovar Albanian children.
Methods:
A cross-sectional retrospective study was performed with Albanian children aged 0-18
years, treated for celiac disease in the Pediatric Clinic, University Clinical Center of Kosovo from
2005 to 2016.
Results:
During the study period, 63 children were treated for celiac disease. The mean age at diagnosis
was 5.5 years (SD ± 3.31). The mean age at celiac disease onset was 3.3 years (SD ± 2.02),
while the mean delay from the first symptoms indicative of celiac disease to diagnosis was 2.2
years (SD ± 2.09). More than 70% of the patients were diagnosed in the first 7 years of life, mainly
presented with gastrointestinal symptoms, while primary school children and adolescents mostly
showed atypical symptoms (p<0.001). The classical form of celiac disease occurred in 78% of the
cases. Sixty (95%) patients carried HLA-DQ2.5, DQ2.2 and/or HLA-DQ8 heterodimers, and only
three of them tested negative.
Conclusions:
Kosovo, as the majority of developing countries, is still facing the classical form of
celiac disease as the dominant mode of presentation; as a result, most children with other forms of
the celiac disease remain undiagnosed.
:
Physicians should be aware of the wide range of clinical presentations and utilize low testing
thresholds in order to prevent potential long-term problems associated with untreated celiac disease.
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
