Introduction Diffuse familial polyposis (DFP) is an autosomal dominant hereditary rare genetic disease that, if not diagnosed and treated in time, leads to the development of colorectal carcinoma. The aim of the study is to review the literature on the etiopathogenesis, diagnosis, treatment and complications of diffuse familial polyposis in children. Search strategy. literature search was carried out in the Web of Science, PubMed, e-Library databases, in two languages (Russian and English) using the keywords "familial diffuse polyposis", "familial adenomatous polyposis" research depth 10 years. As a result, 1175 publications were found, of which 97 articles were selected. Results: The article presents a review of the literature on the etiopathogenesis, diagnosis, treatment and complications of diffuse familial polyposis (DSP) in children. According to many authors, the disease is based on a mutation in the APC gene. Diagnosis is based on fibrocolonoscopy with biopsy and genetic testing. The most common complications are benign thyroid nodules (2–12%), thyroid cancer (38–79%), and hepatoblastoma. A high risk of complications is indicated by a complete genetic examination and the detection of alpha-fetoprotein in relatives when detecting DSP and dynamic control at the age of up to 15 years. The tactics of treatment depends on the nosological form of DSP and is determined with the participation of specialized specialists (pediatrician, proctologist, oncologist, pathologist, geneticist, molecular biologist). The question of options for surgical tactics remains open. However, most authors suggest performing coproctectomy with the formation of a small bowel reservoir with ileoanal anastomosis, which improves functional aspects. Surgical treatment is carried out in specialized children's centers of coloproctology at any age. Conclusions When diagnosing DAP in children, it is necessary to assess the likelihood of developing a malignant tumor. In the postoperative period, rehabilitation is required with the participation of a multidisciplinary team consisting of pediatricians, gastroenterologists, oncologists, pathologists, a geneticist and a molecular biologist.
Assylzhan M. Messova1, https://orcid.org/0000-0001-5373-0523 Makhmutbay Sanbayev1, https://orcid.org/0000-0001-8681-6972 Kuat D. Akimzhanov1, https://orcid.org/0000-0003-1886-0538 Samatbek T. Abdrakhmanov1, https://orcid.org/0000-0002-4270-3498 Olga T. Van1, https://orcid.org/0000-0003-3065-2061 Zhanar M. Urazalina1, https://orcid.org/0000-0002-4494-6565 1 NCJSC “Semey Medical University”, Semey, Republic of Kazakhstan.
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Messova A.M., Sanbayev M., Akimzhanov K.D., Abdrakhmanov S.T., Van O.T., Urazalina Zh.M. Diffuse familial polyposis in children: a literature review // Nauka i Zdravookhranenie [Science & Healthcare]. 2023, (Vol.25) 4, pp. 182-190. DOI 10.34689/SH.2023.25.4.023

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