Ulcerative colitis, hereditary spherocytosis and haemochromatosis in a child: an integrated approach to clinical case management

Résumé fourni par la source

Inflammatory bowel disease (IBD), which includes Crohn's disease (CD) and ulcerative colitis (UC), is a chronic systemic idiopathic pathology of the intestinal tract with extraintestinal manifestations (EIM) in some patients. One of the most common complications in these patients is anemia, which can be the result of iron, vitamin B12 or B9 deficiency; intestinal absorption disorders or autoimmune hemolysis. Aim - to describe a rare clinical case of a 10-year and 10-month-old boy diagnosed with UC and EIM, hereditary spherocytosis (HS) caused by a heterozygous ANK1 gene-mutation and hereditary hemochromatosis associated with a pathogenic HFE gene- mutation. This case underscores the importance of genetic testing, pathological examinations, and accurate interpretation of peripheral blood smear morphology for disease diagnosis. Clinical case. We present a unique combination of UC with EIM, НS caused by a pathogenic heterozygous mutation in the ANK1 gene (exon c.2394_2397del (p.Ser799Ilefs*5)), and hereditary hemochromatosis with a heterozygous pathogenic mutation in the HFE gene (exon c.187C>G (p.His63Asp) in a boy aged 10 years 10 months. The child was abdominal and right hip pain, abdominal enlargement. Diagnosis of HS and hemochromatosis was confirmed through whole-genome sequencing and pathological examination of the spleen. UC with EIM (by Pediatric Ulcerative Colitis Activity Index - 15 points) diagnosed based on clinical presentation, colonoscopy, laboratory tests (elevated IgG antibodies to proteinase 3 and inflammatory changes in the blood). This case emphasizes the crucial role of molecular genetic testing and careful analysis of peripheral blood smears by cytologists in the accurate diagnosis of complex diseases. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.