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616.61-008.6-053.3-071 (1) |
Pathology of the urogenital system. Urinary and sexual (genital) complaints. Urology (392) |
SM ISO690:2012 CIUNTU, Angela, REVENCO, Ninel, BERNIC, Jana, BALANUȚA, Ana-Mihaela, BUJOR, Dina. Dereglări ale metabolismului electrolitic la un copil cu sindrom bartter: caz clinic și reviul literaturii. In: Buletin de Perinatologie, 2020, nr. 4(89), pp. 66-70. ISSN 1810-5289. |
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Buletin de Perinatologie | ||||||
Numărul 4(89) / 2020 / ISSN 1810-5289 | ||||||
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CZU: 616.61-008.6-053.3-071 | ||||||
Pag. 66-70 | ||||||
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Bartter syndrome is a rare primary hereditary tubulopathy with an autosomal recessive transmission mechanism aff ecting the absorption of salts in the ascending segment of the Henle loop, manifested by hypokalemia, hypochloremia, metabolic alkalosis, hyperreninemic hyperaldosteronism with normal or low blood pressure, hyperplasia of the juxtaglomerular system and increased urinary excretion of chlorides. Th e authors review data from the literature and present the clinical case of a 5-year-old female patient diagnosed with Bartter syndrome. Th e onset of the disease at the age of 3 months with repeated vomiting, severe dehydration, hyponatremia, hypokalemia, hypochloremia, hypercalciuria, metabolic alkalosis, the diagnosis being established by the molecular-genetic method. Th e clinical diagnosis of Bartter syndrome by genetic testing is an essential condition for the early initiation of substitution therapy, which directly contributes to improving the patient’s quality of life. |
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Cuvinte-cheie hereditary tubulopathies, Bartter syndrome, hypokalemia, metabolic alkalosis, наследственные тубулопатии, синдром Барттера, гипокалиемия, метаболический алкалоз, tubulopatii ereditare, sindromul Bartter, hipokaliemie, alcaloză metabolică |
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<?xml version='1.0' encoding='utf-8'?> <oai_dc:dc xmlns:dc='http://purl.org/dc/elements/1.1/' xmlns:oai_dc='http://www.openarchives.org/OAI/2.0/oai_dc/' xmlns:xsi='http://www.w3.org/2001/XMLSchema-instance' xsi:schemaLocation='http://www.openarchives.org/OAI/2.0/oai_dc/ http://www.openarchives.org/OAI/2.0/oai_dc.xsd'> <dc:creator>Ciuntu, A.O.</dc:creator> <dc:creator>Revenco, N.E.</dc:creator> <dc:creator>Bernic, J.V.</dc:creator> <dc:creator>Balanuța, A.</dc:creator> <dc:creator>Bujor, D.</dc:creator> <dc:date>2020-12-30</dc:date> <dc:description xml:lang='en'><p>Bartter syndrome is a rare primary hereditary tubulopathy with an autosomal recessive transmission mechanism aff ecting the absorption of salts in the ascending segment of the Henle loop, manifested by hypokalemia, hypochloremia, metabolic alkalosis, hyperreninemic hyperaldosteronism with normal or low blood pressure, hyperplasia of the juxtaglomerular system and increased urinary excretion of chlorides. Th e authors review data from the literature and present the clinical case of a 5-year-old female patient diagnosed with Bartter syndrome. Th e onset of the disease at the age of 3 months with repeated vomiting, severe dehydration, hyponatremia, hypokalemia, hypochloremia, hypercalciuria, metabolic alkalosis, the diagnosis being established by the molecular-genetic method. Th e clinical diagnosis of Bartter syndrome by genetic testing is an essential condition for the early initiation of substitution therapy, which directly contributes to improving the patient’s quality of life.</p></dc:description> <dc:description xml:lang='ru'><p>Синдром Барттера - редкая первичная наследственная тубулопатия с аутосомно-рецессивным механизмом передачи, обусловленная дефектом реабсорбции солей в восходящем сегменте петли Генле, проявляющаяся гипокалиемией, гипохлоремией, метаболическим алкалозом, гиперренинемическим гиперальдостеронизмом при нормальном или пониженном артериальном давлении, гиперплазией юкстагломерулярного аппарата и усиленным выведением хлоридов с мочой. Авторы изучили данные из литературы и представляют клинический случай 5-летней пациентки с диагнозом синдрома Барттера. Дебют заболевания в возрасте 3 месяцев с повторной рвотой, сильным обезвоживанием, гипонатриемией, гипокалиемией, гипохлоремией, гиперкальциурией, метаболическим алкалозом, с постановкой диагноза посредством молекулярно-генетического метода. Подтверждение диагноза синдрома Барттера с помощью генетического тестирования является важным условием для раннего начала заместительной терапии, которая напрямую способствует улучшению качества жизни пациента.</p></dc:description> <dc:description xml:lang='ro'><p>Sindromul Bartter reprezintă o tubulopatie ereditară primară rară, cu mecanism de transmitere autozomal recesiv, cu afectarea absorbției de săruri la nivelul segmentului ascendent al ansei Henle, manifestată prin hipokaliemie, hipocloremie, alcaloză metabolică, hiperaldosteronism hiperreninemic cu tensiune arterială normală sau scăzută, hiperplazia aparatului juxtaglomerular și creșterea excreției urinare de cloruri. Autorii efectuează o trecere în revistă a datelor din literatura de specialitate și prezintă cazul clinic al unui pacient de sex feminin în vârstă de 5 ani, diagnosticat cu sindrom Bartter. Debutul bolii la vârsta de 3 luni cu vărsături repetate, deshidratare severă, hiponatriemie, hipokaliemie, hipocloremie, hipercalciurie, alcaloză metabolică, diagnosticul fi ind stabilit prin metoda molecular-genetică. Diagnosticul clinic al sindromului Bartter prin testarea genetică reprezintă o condiție esențială pentru inițierea precoce a terapiei de substituție, fapt care contribuie nemijlocit la îmbunătățirea calității vieții pacientului.</p></dc:description> <dc:source>Buletin de Perinatologie 89 (4) 66-70</dc:source> <dc:subject>hereditary tubulopathies</dc:subject> <dc:subject>Bartter syndrome</dc:subject> <dc:subject>hypokalemia</dc:subject> <dc:subject>metabolic alkalosis</dc:subject> <dc:subject>наследственные тубулопатии</dc:subject> <dc:subject>синдром Барттера</dc:subject> <dc:subject>гипокалиемия</dc:subject> <dc:subject>метаболический алкалоз</dc:subject> <dc:subject>tubulopatii ereditare</dc:subject> <dc:subject>sindromul Bartter</dc:subject> <dc:subject>hipokaliemie</dc:subject> <dc:subject>alcaloză metabolică</dc:subject> <dc:title>Dereglări ale metabolismului electrolitic la un copil cu sindrom bartter: caz clinic și reviul literaturii</dc:title> <dc:type>info:eu-repo/semantics/article</dc:type> </oai_dc:dc>