Renal Sodium Handling Study In An Atypical Case Of Bartter's Syndrome Associated With Mitochondriopathy And Sensorineural Blindness.

dc.creatorMenegon, L F
dc.creatorAmaral, T N
dc.creatorGontijo, José A R
dc.date2004-Mar
dc.date2015-11-27T12:58:21Z
dc.date2015-11-27T12:58:21Z
dc.date.accessioned2018-03-29T00:59:24Z
dc.date.available2018-03-29T00:59:24Z
dc.identifierRenal Failure. v. 26, n. 2, p. 195-7, 2004-Mar.
dc.identifier0886-022X
dc.identifier
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/15287206
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/195895
dc.identifier15287206
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1296128
dc.descriptionBartter's syndrome is a disorder that has been linked to mutations in one of three ion transporter proteins: NKCC2 (type I), ROMK (type II) and CCLNKB (type III), which affects a final common pathway that participates in ion transport by thick ascending limb cells. We present an atypical case of mitochondriopathy combined with tubule functional disturbances compatible with Bartter's syndrome and definitive sensorineural blindness. Our patient had a peculiar clinical presentation with signs of salt and volume depletion, low blood pressure and secondary hyperaldosteronism, associated with hypokalemic metabolic alkalosis, hypocalcemia and severe hypomagnesemia, uncommon in genetic forms of Bartter's syndrome. The enhanced absolute and fractional sodium excretion in our patient compared to volunteers was accompanied by increased post-proximal sodium rejection, suggesting a striking ion transport dysfunction in these nephron segments. These findings lead to the Bartter's syndrome diagnosis, accompanied by a suppose mitochondrial tick ascending loop of Henle epithelium dysfunction that may reflect the high energy supplied by mitochondria electron transport chain, required for this nephron segment to maintain normal ion transport.
dc.description26
dc.description195-7
dc.languageeng
dc.relationRenal Failure
dc.relationRen Fail
dc.rightsfechado
dc.rights
dc.sourcePubMed
dc.subjectAlkalosis
dc.subjectBartter Syndrome
dc.subjectBlindness
dc.subjectFemale
dc.subjectHumans
dc.subjectHypocalcemia
dc.subjectHypokalemia
dc.subjectKidney Diseases
dc.subjectKidney Function Tests
dc.subjectLoop Of Henle
dc.subjectMagnesium Deficiency
dc.subjectMiddle Aged
dc.subjectMitochondria
dc.subjectPrognosis
dc.subjectRisk Assessment
dc.subjectSodium
dc.subjectSyndrome
dc.subjectUrinalysis
dc.titleRenal Sodium Handling Study In An Atypical Case Of Bartter's Syndrome Associated With Mitochondriopathy And Sensorineural Blindness.
dc.typeArtículos de revistas


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