Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/195895
Type: Artigo de periódico
Title: Renal Sodium Handling Study In An Atypical Case Of Bartter's Syndrome Associated With Mitochondriopathy And Sensorineural Blindness.
Author: Menegon, L F
Amaral, T N
Gontijo, José A R
Abstract: Bartter'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.
Subject: Alkalosis
Bartter Syndrome
Blindness
Female
Humans
Hypocalcemia
Hypokalemia
Kidney Diseases
Kidney Function Tests
Loop Of Henle
Magnesium Deficiency
Middle Aged
Mitochondria
Prognosis
Risk Assessment
Sodium
Syndrome
Urinalysis
Rights: fechado
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/15287206
Date Issue: 2004
Appears in Collections:Unicamp - Artigos e Outros Documentos

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