ХІРУРГІЧНІ УСКЛАДНЕННЯ МУКОВІСЦИДОЗУ В ПЕДІАТРИЧНІЙ ПРАКТИЦІ
DOI:
https://doi.org/10.32782/2226-2008-2025-3-13Ключові слова:
муковісцидоз, хірургічні ускладнення, кишкова непрохідність, безоар, хірургічне лікуванняАнотація
Муковісцидоз – системне, генетично зумовлене, аутосомно-рецесивне захворювання, що спричиняється мутацією гена трансмембранного регулятора муковісцидозу, що характеризується ураженням залоз зовнішньої секреції. У зв’язку зі зниженням ферментної функції підшлункової залози, функції печінки та підвищення в’язкості секрету слизових оболонок пацієнти мають підвищений ризик до утворення безоарів різного походження. У статті наведено особливості клінічного перебігу та лікувально-діагностичної тактики у разі хірургічних ускладнень муковісцидозу за даними джерел літератури та власного досвіду.
Посилання
Ong T, Ramsey BW. Cystic fibrosis: a review. Jama. 2023; 329(21): 1859–1871. https://doi.org/10.1001/jama.2023.8120.
Taylor-Cousar JL, Robinson PD, Shteinberg M, Downey DG. CFTR modulator therapy: transforming the landscape of clinical care in cystic fibrosis. The Lancet. 2023; 402(10408): 1171–1184. https://doi.org/10.1016/s0140-6736(23)01609-4.
Berezenko VS, Reznikov YuP, Krat VV. Mukovistsydoz u ditei. Svoiechasna diahnostyka yak vazhlyvyi predyktor efektyvnosti likuvannia (klinichnyi vypadok) [Cystic fibrosis in children. Early diagnosis as an important predictor of treatment efficiency (clinical case)] Perinatolohiia y pediatriia. Ukraina. 2017; 3(71): 74–80. https://doi.org/10.15574/ pp.2017.71.74 (in Ukrainian).
Allen L, Allen L, Carr SB, et al. Future therapies for cystic fibrosis. Nature communications. 2023; 14(1): 693. https://doi.org/10.1038/s41467-023-36244-2.
Scotet V, L’hostis C, Férec C. The changing epidemiology of cystic fibrosis: incidence, survival and impact of the CFTR gene discovery. Genes. 2020; 11(6): 589. https://doi.org/10.3390/genes11060589.
Moliteo E, Sciacca M, Palmeri A, et al. Cystic fibrosis and oxidative stress: the role of CFTR. Molecules. 2022; 27(16): 5324. https://doi.org/10.3390/molecules27165324.
López-Valdez JA, Aguilar-Alonso LA, Gándara-Quezada V, et al. Cystic fibrosis: current concepts. Boletín médico del Hospital Infantil de México. 2021; 78(6): 584–596. https://doi.org/10.24875/bmhim.20000372.
Bierlaagh MC, Muilwijk D, Beekman JM, van der Ent CK. A new era for people with cystic fibrosis. European Journal of Pediatrics. 2021; 180(9): 2731–2739. https://doi.org/10.1007/s00431-021-04168-y.
Berg P, Jeppesen M, Leipziger J. Cystic fibrosis in the kidney: new lessons from impaired renal HCO3− excretion. Current Opinion in Nephrology and Hypertension. 2021; 30(4): 437–443. https://doi.org/10.1097/mnh.0000000000000725.
Chandler NJ, Ahlfors H, Drury S, et al. Noninvasive prenatal diagnosis for cystic fibrosis: implementation, uptake, outcome, and implications. Clinical Chemistry. 2020; 66(1): 207–216. https://doi.org/10.1373/clinchem.2019.305011.
Stanford GE, Dave K, Simmonds NJ. Pulmonary exacerbations in adults with cystic fibrosis: a grown-up issue in a changing cystic fibrosis landscape. Chest. 2021; 159(1): 93–102. https://doi.org/10.1016/j.chest.2020.09.084.
Kelly J, Al-Rammahi M, Daly K, et al. Alterations of mucosa-attached microbiome and epithelial cell numbers in the cystic fibrosis small intestine with implications for intestinal disease. Scientific Reports. 2022;12(1): 6593. https://doi.org/10.1038/s41598-022-10328-3.
Tobias J, Tillotson M, Maloney L, Fialkowski E. Meconium Ileus, Distal Intestinal Obstruction Syndrome, and Other Gastrointestinal Pathology in the Cystic Fibrosis Patient. The Surgical clinics of North America. 2022; 102(5): 873–882. https://doi.org/10.1016/j.suc.2022.07.016.
Mazur OH, Rubina OS, Bertsun KT, Homon RO, Slipchuk KI. Osoblyvosti mukovistsydozu u novonarodzhenykh na prykladi klinichnoho vypadku [Features of cystic fibrosis in newborns on the example of a clinical case]. Neonatolohiia, khirurhiia ta perynatalna medytsyna. 2022; 12(3(45)): 89–93. (In Ukrainian). https://doi.org/10.24061/2413-4260.XII.3.45.2022.14.
Niemkovych VV, Huk OIu, Korolenko HS, Riznyk AV. Literaturnyi ohliad ta morfolohichni osoblyvosti mukovystsydozu na prykladi klinichnoho vypadku [Literature review and morphological features of cystic fibrosis on the example of a clinical case]. Novyiny i perspectyvy medyichnoyi nauky: Materialy XXI naukovoi konferentsii studentiv ta molodykh uchenykh – Materials of the XXI scientific conference of students and young scientists. 2021. Dnipro, Ukraine (in Ukrainian).
Kasper VL, Assis DN. Pathophysiology of cystic fibrosis liver disease. Pediatric Pulmonology. 2024; 59: 98–106. https://doi.org/10.1002/ppul.26869
Kutney KA, Sandouk Z, Desimone M, Moheet A. Obesity in cystic fibrosis. Journal of Clinical & Translational Endocrinology. 2021; 26: 100276. https://doi.org/10.1016/j.jcte.2021.100276.
Kfouri CFDA, Romania MCFN, Julião RJM, et al. Colonic phytobezoar. Journal of Coloproctology (Rio de Janeiro). 2018; 38: 246–249. https://doi.org/10.1016/j.jcol.2018.02.002.
Ying CL, Zha J, Liu W. Small Bowel Obstruction by Phytobezoar. Digestive Diseases and Sciences. 2024; 70: 1–4. https://doi.org/10.1007/s10620-024-08763-5.
Kosmidis CS, Mystakidou CM, Varsamis N, Koulouris C, Sevva C, Papadopoulou K, Mantalovas S. Phytobezoar-Induced Mechanical Ileus and Incipient Intussusception: A Case Report. Medicina. 2023; 59(7): 1227. https://doi.org/10.3390/medicina59071227.
Aydin I, Sengul I, Sengul D. Phytobezoar: an unusual condition leading to small bowel obstruction. Cureus. 2022; 14(4): e23885 https://doi.org/10.7759/cureus.23885.
Vilela JC, Leal ACC, Laia MG, et al. Abdome Agudo Obstrutivo: Relato de Fitobezoar Causado por Damasco. Journal of Coloproctology. 2021; 41(S 01): A439. https://doi.org/10.1055/s-0041-1742024.
Padilha de Toledo A, Hurtado Rodrigues F, Rocha Rodrigues M, et al. Diospyrobezoar as a cause of small bowel obstruction. Case reports in gastroenterology. 2012; 6(3): 596–603. https://doi.org/10.1159/000343161.
Dubkovska MV, Khimenko TM, Kochkariov OV, Fedorenko OV. Bezoar in the practice of general practitioner and pedia- trician: clinical case – Rapunzel syndrome. Odesa Medical Journal. 2021; (5): 65–70. (In Ukrainian). http://files.odmu.edu.ua/journal/OMJ_2021.05/m215_65.pdf.
Kravets O, Svistunov O, Moskalenko R. A rare case of Meckel’s diverticulum strangulation complicated by small intes- tine obstruction (clinical case). Eastern Ukrainian Medical Journal. 2024; 12(2): 457–465. https://doi.org/10.21272/eumj.2024;12(2):457-465.
Taha Y, Salman K, Alrayyes F, Alrayyes S. An unusual case of phytobezoar-induced small bowel obstruction. Journal of Surgical Case Reports. 2019; (11): 296. https://doi.org/10.1093/jscr/rjz296.
Mejri A, Trigui E. Phytobezoar: A train can hide another. International Journal of Surgery Case Reports. 2021; 81: 105814. https://doi.org/10.1016/j.ijscr.2021.105814.
Jain SA, Agarwal L, Khyalia A, Chandolia P, Kaknale H. Pharmacobezoar – a rare case presented as gastric outlet obstruction. Journal of Surgical Case Reports. 2018; (5): 116. https://doi.org/10.1093/jscr/rjy116.
Ben-Porat T, Dagan SS, Goldenshluger A, Yuval JB, Elazary R. Gastrointestinal phytobezoar following bariatric surgery: systematic review. Surgery for Obesity and Related Diseases. 2016; 12(9): 1747–1754. https://doi.org/10.1016/j.soard.2016.09.003.
Drevin G, Malbranque S, Jousset N, et al. Pharmacobezoar-Related Fatalities: A Case Report and a Review of the Literature. Therapeutic Drug Monitoring. 2022; 46(1): 10–1097. https://doi.org/10.1097/ftd.0000000000001150.
Kumar N, Huda F, Gupta R, Payal YS, Kumar U, Mallik D. Rapunzel syndrome in adult with mysterious presentation: a rare case report with literature review. Tropical Doctor. 2019; 49(2): 133–135. https://doi.org/10.1177/0049475519826477.
Basílio F, Dinis-Oliveira RJ. Clinical and forensic aspects of pharmacobezoars. Current Drug Research Reviews Formerly: Current Drug Abuse Reviews. 2020: 12(2); 118–130.
Zello A, Kirschner D. Diagnosis of a rare pediatric case of small-bowel obstruction secondary to a phytobezoar in a Meckel’s diverticulum aided by point-of-care ultrasound. Canadian Journal of Emergency Medicine. 2023; 25(3): 244–247. https://doi.org/10.1007/s43678-023-00463-9.
