CYSTIC FIBROSIS IN CHILDREN. MAIN CLINICAL ASPECTS.
Cystic fibrosis This is a severe hereditary autosomal recessive disorder associated with a mutation in the transmembrane regulator of cystic fibrosis (MVTR) located on chromosome 7, based on damage to exocrine glands and increased secretion viscosity. This often leads to damage to the lungs, pancreas and intestines, rarely the liver and kidneys. Of the five thousand orphan diseases described so far, cystic fibrosis is the most common. The frequency of meetings in the world ranges from 1: 2000 to 1: 100,000. Every year, more than 45,000 babies are born with cystic fibrosis worldwide. Frequency is relatively rare in Asian countries.
According to this study, despite significant advances in the diagnosis and treatment of cystic fibrosis, with the development of the clinical picture of the disease in the first year of life, only 18% of children under 1 year of age were diagnosed in a timely manner. One of the criteria for the severity of cystic fibrosis and its unfavorable outcome was the addition of pulmonary and biliary complications. The examined patients were diagnosed with lung atelectasis, bronchiectasis, emphysema, diffuse pneumosclerosis. This article describes a clinical case of a patient with cystic fibrosis complicated by cirrhosis of the liver, portal hypertension.
The data provided in the article will be useful for neonatologists, paediatricians, gastroenterologists and general practitioners.
Zhansaya U. Kabdollina1, Bakytkul Zh. Toktabayeva1,
Valentina T. Dolinnaya1, Gulnur Zh. Sagyndykova2
1 Department of propaedeutics of childhood diseases, NJSC «Semey Medical University»,
Semey, Republic of Kazakhstan.
2Student 3225 group, NCJSC «Semey Medical University»,
Semey city, Republic of Kazakhstan
1. Баранов А.А., Намазова Л.С., Баранова, Симонова О.И., Каширская Н.Ю., и др. Современные представления о диагностике и лечении детей с муковисцидозом // Педиатрическая фармокология. 2015, Т.12 (5). С. 589-604
2. Каширская Н.Ю., Капранов Н.И., Толстова В.Д. Рання диагностика и адекватное лечение детей, больных муковисцидозом // Проблемы стандартизации в здравоохранении. 2008. №5, С.13-18
3. Кондратьева Е.И., Каширская Н.Ю., Капранов Н.И. Национальный консенсус. «Муковисцидоз: определение, диагностические критерии, терапия». Москва, 2016. 112с.
4. Кондратьева Е.И., Шерман В.Д. и др. Клинико-генетическая характеристика и исходы мекониевого илеуса при муковисцидозе // Российский вестник перинатологии и педиатрии. 2016.№ 6, С.77-81
5. Нукушева С.Г., Святова Г.С., Иманкулова К.Д., Шарипова М.Н. Муковисцидоз в Казахстане // Клини-ческая медицина Казахстана. 2013, №2 (28), С.92-98
6. Пономарева Т.А. Региональные особенности муковисцидоза и элементного статуса у детей Ставропольского края. диссерт.канд.мед.наук. Ставрополь, 2018. 140с.
7. Хачиян М.М. Клинико-генетическая характеристика детей и подростков с муковисцидозом в краснодарском крае и оценка роли стафилокковой инфекции при муковисцидозе. диссерт.канд.мед.наук. Пермь. 2021. 140с.
References:
1. Baranov A.A., Namazova L.S., Baranova, Simonova O.I., Kashirskaya N.Yu. i dr. Sovremennye predstavleniya o diagnostike i lechenii detei s mukovistsidozom [Modern ideas about the diagnosis and treatment of children with cystic fibrosis]. Pediatricheskaya farmokologiya [Pediatric pharmacology]. 2015, T.12 (5). pp. 589-604 [in Russian]
2. Kashirskaya N.Yu., Kapranov N.I., Tolstova V.D. Rannya diagnostika i adekvatnoe lechenie detei, bol'nykh mukovistsidozom [Early diagnosis and adequate treatment of children with cystic fibrosis]. Problemy standartizatsii v zdravookhranenii [Problems of standardization in health care]. 2008. №5, pp.13-18 [in Russian]
3. Kondrat'eva E.I., Kashirskaya N.Yu., Kapranov N.I. Natsional'nyi konsensus. «Mukovistsidoz: opredelenie, diagnosticheskie kriterii, terapiya» [National consensus. "Cystic fibrosis: definition, diagnostic criteria, therapy"]. Moskva, 2016. 112р. [in Russian]
4. Kondrat'eva E.I., Sherman V.D. i dr. Kliniko-geneticheskaya kharakteristika i iskhody mekonievogo ileusa pri mukovistsidoze [Clinical and genetic characteristics and outcomes of meconium ileus in cystic fibrosis]. Rossiiskii vestnik perinatologii i pediatrii [Russian Bulletin of Perinatology and Pediatrics]. 2016. №6, pp. 77-81 [in Russian]
5. Nukusheva S.G., Svyatova G.S., Imankulova K.D., Sharipova M.N. Mukovistsidoz v Kazakhstane [Cystic fibrosis in Kazakhstan]. Klinicheskaya meditsina Kazakhstana [Clinical Medicine of Kazakhstan]. 2013, №2 (28). pp. 92-98 [in Russian]
6. Ponomareva T.A. Regional'nye osobennosti mukovistsidoza i elementnogo statusa u detei Stavropol'skogo kraya. Dissert. kand. med. nauk [Regional features of cystic fibrosis and elemental status in children of the Stavropol Territory. Cand dissert.]. Stavropol', 2018. 140p. [in Russian]
7. Khachiyan M.M. Kliniko-geneticheskaya kharakteristika detei i podrostkov s mukovistsidozom v Krasnodarskom krae i otsenka roli stafilokkovoi infektsii pri mukovistsidoze. Dissert. kand. med. nauk [Clinical and genetic characteristics of children and adolescents with cystic fibrosis in the Krasnodar Territory and assessment of the role of staphylococcal infection in cystic fibrosis. Cand dissert.]. Perm'. 2021. 140p. [in Russian]
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Category of articles:
Clinical case
Bibliography link
Kabdollina Zh.U., Toktabayeva B.Zh., Dolinnaya V.T., Sagyndykova G.Zh. Cystic fibrosis in children. Main clinical aspects // Nauka i Zdravookhranenie [Science & Healthcare]. 2022, (Vol.24) 3, pp. 231-237. doi 10.34689/SH.2022.24.3.027Related publications:
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