A CLINICAL CASE OF PSEUDO - BARTTER SYNDROME IN A CHILD OF 11 MONTHS
The article describes a clinical case of pseudo-Bartter syndrome (PSB) or a salt-wasting form of CF in an 11-month-old child with cystic fibrosis. PSB is one of the serious complications and, in some cases, is a manifestation of CF disease with a possible fatal outcom. PSB manifests mainly in children in the first year of life, is characterized by renin hypersecretion, hyperaldosteronism, but without the development of arterial hypertension, in contrast to the true Bartter's syndrome, in which salt loss with sweat is normal, but salt metabolism in the renal tubules is impaired. Chronic loss of salts is aggravated by increased sweating during the hot season, with fever, vomiting, diarrhea and insufficient intake of sodium from food. The frequency of this syndrome among patients with CF, according to a number of authors, is 12–16%. Symptoms atypical for classical CF: progressive hypotension, delayed weight gain or weight loss with an adequate dose of enzymes, repeated regurgitation or vomiting, diarrhea or stool retention associated with intestinal paresis against the background of electrolyte disturbances creates serious difficulties for the diagnosis of CF and the implementation of rational therapy, often leads to life-threatening conditions requiring intensive care, and sometimes to a rapid death. Awareness of doctors and parents, control of electrolyte levels at the first symptoms of the disease allow you to quickly take preventive measures aimed at the development of metabolic disorders, followed by the prevention of a critical condition of a life-threatening child. The article presents a case of an atypical course of cystic fibrosis in a young child. Shown, on a specific example, the difficulty of diagnosing this disease. The information presented in the article is useful for: neonatologists, pediatricians, general practitioners, pulmonologists, gastroenterologists, nutritionists.
Тatyana V. Marshalkina1, Nazgul T. Zhanuzakova1, Aliya G. Zaitova1 1 AC «Scientific Center of Pediatrics and Pediatric Surgery», Аlmaty с., Republic of Kazakhstan
1. Ашерова И.К., Капранов Н.И. Электролитные нарушения у больных с муковисцидозом // Вестник новых медицинских технологий. 2012. Том XIX. № 2. С. 96 – 98. 2. Воронкова А.Ю., Шерман В.Д. Случай поздней диагностики псевдо- Барттер синдрома у ребенка 6 месяцев с муковисцидозом // Педиатрия. Журнал им. Сперанского Г.Н. 2014. №4: С. 172—174. 3. Ильченко С.И., Фиалковская А.А., Иванусь С.Г. О трудностях диагностики псевдо - Барттер синдрома (клинический случай у ребенка с муковисцидозом). Клинический случай // Современная педиатрия. 2018. №5. С. 45 – 48. 4. Капранова Н.И., Каширской Н.Ю., Муковисцидоз. М. Издательский Дом Медпрактика, Москва. 2014. 672 с. 5. Кондратьева Е.И., Каширская Н.Ю., Капранов Н.И. Национальный консенсус Муковисцидоз: определение, диагностические критерии, терапия Москва. 2019. 343 с. 6. Капустина Т.Ю. и др. Синдром псевдо – Барттера у пациентов, наблюдающихся в Российском центре муковисцидоза // Материалы IX Национального конгресса Муковисцидоз у детей и взрослых. 2009. С. 40 – 41. 7. Леднева В.С., Ульянова Л.В., Неретина А.Ф. Опыт диагностики и терапии синдрома псевдо – Барттера у детей, больных муковисцидозом // Российский вестник перинатологии и педиатрии. 2011. №5. С. 26 - 29 8. Орлов А.В., Симонова О.И, Рославцева Е.А., Шадрин Д.И. Муковисцидоз (клиническая картина, диагностика, лечение, реабилитация, диспансеризация). Учебное пособие для врачей. Издательство СЗГМУ им. И. И. Мечникова. Санкт-Петербург. 2014. 160с. 9. Vilotijevic-Dautovic G., Stojanovi V. Pseudo-Bartter's Syndromein Patients with Cystic Fibrosis: A Case Series and Review of the Literature // Srp Arh Celok Lek. 2015. 143 (11—12). 10. Hizal M.G., Ciki K., Esref S. et al. Clinical features of pseudo-Bartter syndrome in cystic fibrosis // European Respiratory Journal. 2017. 50; 61: 1343. doi 10.1183/1393003.congress=2017.PA1343 References: 1. Asherova I.K., Kapranov N.I. Elektrolitnye narusheniya u bol'nykh s mukovistsidozom [Electrolyte disorders in patients with cystic fibrosis]. Vestnik novykh meditsinskikh tekhnologii [Bulletin of new medical technologies]. 2012. Tom XIX. №2. pp. 96–98. [in Russian] 2. Voronkova A.YU., Sherman V.D. Sluchaj pozdnej diagnostiki psevdo-Bartter sindroma u rebenka 6 mesyacev s mukoviscidozom [A case of late diagnosis of pseudo-Bartter syndrome in a 6-month-old child with cystic fibrosis]. Pediatriya. Zhurnal im. Speranskogo G.N. [Pediatrics. Journal them. Speransky G.N]. 2014. No.4:172—174. [in Russian] 3. Il'chenko S.I., Fialkovskaya A.A., Ivanus' S.G. O trudnostyakh diagnostiki psevdo - Bartter sindroma (klinicheskii sluchai u rebenka s mukovistsidozom) [On the difficulties of diagnosing pseudo-Bartter syndrome (a clinical case in a child with cystic fibrosis. Clinical case]. Sovremennaya pediatriya [Modern Pediatrics]. 2018№ 5. pp. 45 – 48. [in Russian] 4. Kapranova N.I., Kashirskoj N.Yu., Mukovistsidoz. [Cystic fibrosis] M. Izdatel'skii Dom Medpraktika, Moskva. [Publishing House Medpraktika, Moscow] 2014. pp. 672. [in Russian] 5. Kondrat'eva E.I., Kashirskaya N.YU., Kapranov N.I. Nacional'nyi konsensus Mukovistsidoz: opredelenie, diagnosticheskie kriterii, terapiya Moskva [National consensus Cystic fibrosis: definition, diagnostic criteria, therapy Moscow]. 2019. p. 343 [in Russian] 6. Kapustina T.Yu i dr. Sindrom psevdo – Barttera u patsientov, nablyudayushchikhsya v Rossiiskom tsentre mukovistsidoza. [Pseudo-Bartter syndrome in patients observed at the Russian Cystic Fibrosis Center]. Materialy IX Natsional'nogo kongressa Mukovistsidoz u detei i vzroslykh. [Proceedings of the IX National Congress Cystic fibrosis in children and adults] 2009. pp. 40 – 41 [in Russian] 7. Ledneva V.S., Ul'yanova L.V., Neretina A.F. Opyt diagnostiki i terapii sindroma psevdo – Barttera u detei, bol'nykh mukovistsidozom [Experience in the diagnosis and treatment of pseudo-Bartter syndrome in children with cystic fibrosis]. Rossiiskij vestnik perinatologii i pediatrii [Russian Bulletin of Perinatology and Pediatrics]. 2011. 5. pp. 26 – 29 [in Russian] 8. Orlov A.V., Simonova O.I, Roslavceva E.A., SHadrin D.I., Mukovistsidoz (klinicheskaya kartina, diagnostika, lechenie, reabilitatsiya, dispanserizatsiya) [Cystic fibrosis (clinical picture, diagnosis, treatment, rehabilitation, clinical examination)]. Uchebnoe posobie dlya vrachei. Izdatel'stvo SZGMU im. I. I. Mechnikova. Sankt-Peterburg. [Textbook for doctors. Publishing house SZGMU them. I. I. Mechnikov. St. Petersburg] 2014. p. 160. [in Russian]
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Marshalkina Т.V., Zhanuzakova N.T., Zaitova A.G. A clinical case of pseudo - Bartter syndrome in a child of 11 months // Nauka i Zdravookhranenie [Science & Healthcare]. 2022, (Vol.24) 3, pp. 238-242. doi 10.34689/SH.2022.24.3.028

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