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Ultima descărcare din IBN: 2023-04-28 19:19 |
Căutarea după subiecte similare conform CZU |
616.61-008.6-053.3-071 (1) |
Patologia sistemului urogenital. Boli urinare şi sexuale (genitale) (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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