Catarina maia 1, ana garrido 1, isabel carvalho 1, helena pinto 2, luisa guedes vaz 2, graca ferreira 1. Bartter syndrome involves an overlapping set of closely related renal tubular disorders which can be subdivided into at least three clinical phenotypes. Full text get a printable copy pdf file of the complete article 333k, or click on a page image below to browse page by page. Pseudobartters syndrome is a syndrome of similar presentation as bartter syndrome but without any of its characteristic genetic defects.
Upf barcelona school of management recommended for you. Pseudobartter syndrome definition of pseudobartter. Pseudo bartter syndrome as an initial presentation of cystic fibrosis. Pseudo bartter syndrome is a general term that refers to certain conditions that cause similar symptoms and signs of bartter syndrome, but in which there is no inherited renal tubular dysfunction.
Pdf giltelman syndrome gs is a recessive saltlosing tubulopathy of children or young adults caused by. Investigations are described which may help to distinguish bartters syndrome from pseudobartters syndrome. Ospedale di circolo e fondazione macchi, viale borri, 57, 21100 varese, italy. Bartter syndrome bs is a rare inherited disease characterised by a defect in the thick. Bartter syndrome bs is a hereditary condition transmitted as an autosomal recessive bartter type 1 to 4 or dominant trait bartter type 5. Get a printable copy pdf file of the complete article 351k, or click on a page image below to browse page by page. Patients with cystic fibrosis cf may present hydroelectrolytic alterations, who may develop pbs. The bartter syndrome bs includes a group of tubulopathies characterized mainly by hypokalemia, metabolic alkalosis, hyperreninemia and hyperaldosteronism, with normal blood pressure. The disease associates hypokalemic alkalosis with varying degrees of. Chronicsweatelectrolyte loss, particularly in high environmental temperatures, may be aggravated by an acute intercurrent illness with mild vomiting or diarrhoea. Links to pubmed are also available for selected references.
In contrast to classic bartter syndrome and gitelman syndrome, the neonatal variant of bartter syndrome has both the features of renal tubular. Pseudobartter syndrome in eating disorders researchgate. A closely associated disorder, gitelman syndrome, is milder than both subtypes of bartter syndrome. An epidemic of pseudobartter syndrome in cystic fibrosis patients. A condition attributed to furosemide therapy, characterized by hypokalemichypochloremic alkalosis, hyperactivity of reninangiotensinaldosterone system with aldosterone, normotension, pressor inactivity of angiotensin ii, urinary pge 2, anp. Bartter syndrome nord national organization for rare. Full text full text is available as a scanned copy of the original print version. Taken together, this phenomenon is referred to as pseudobartters syndrome 25. Pseudobartter s syndrome in cystic fibrosis hasmorethanonecause. Pseudobartter syndrome diuretic abuse, surreptitious vomiting. The intercurrent illness is not severe enough in itself to account for the metabolic. Pseudobartter syndrome as an initial presentation of cystic fibrosis.
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