MUTUAL BURDEN SYNDROME IN GILBER'S DISEASE
DOI:
https://doi.org/10.11603/24116-4944.2023.1.13935Keywords:
Gilbert 's disease, flat feet, chest deformity, mutual burdenAbstract
The aim of the study – to sharpen attention to the comprehensive examination of children with Gilbert's disease. This “benign” chronic illness is combined with a number of developmental disorders in children – the syndrome of mutual burden, which must be taken into account when planning preventive and therapeutic measures.
Materials and Methods. Two family cases of Gilbert's disease were studied. Family anamnesis was studied through interviews with children and parents, extracts from outpatient and inpatient documents, clinical examination results, biochemical laboratory data, radiological, ultrasonographic, medicogenetic results were analyzed. Special attention was paid to complaints, mistakes in diet, physical lifestyle.
Results and Discussion. Family cases from the practice of Gilbert's disease (HJ) are described. The main sign of HD is yellowing of the skin, palms, feet, nasolabial triangle, groin, icteric sclera, which was variable. The disease was diagnosed in boys (aged 13–14 years) by accident in connection with other examinations – chronic gastritis, dysfunction of the gallbladder, pancreas, brain. The exact diagnosis was established after molecular examination – (homozygous carrier ) T1, A1. With exacerbation of HD, nausea, vomiting, heartburn, flatulence, pain in the right hypochondrium, general malaise, headache, increased sweating, palpitations, sleep disorders, asthenodepressive syndrome, muscle pain, unreasonable fears, panic attacks. The main causes of exacerbation of HD were dietary disorders, physical activity on the background of puberty. In both cases, the clinical HZH combined with a number of congenital diseases of the facial skull, chest, feet, spine, hiperelastychnistyu ligaments skeleton, retinopathy eye vysokoroslistyu (phenotype disease Marfan ), multiple nevi skin.
Conclusions. The genetic defect of the long arm of the 37th strand of the 2nd chromosome, which is responsible for the exchange of bilirubin, obviously indirectly or directly negatively affects the morphogenesis of the entire body of the child and manifests itself in various clinical diseases – the syndrome of mutual burden. Excess indirect, toxic bilirubin, due to its inherent fat solubility, enters the central nervous system, pancreas, and bone marrow, where it causes functional disorders with corresponding clinical manifestations.
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