Adult presentation of Bartter syndrome type IV with erythrocytosis

Ita P feferman Heilberg, Cláudia Tótoli, Joaquim T omaz Calado

Research output: Contribution to journalArticle

6 Citations (Scopus)
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Abstract

Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed in the thick ascending limb of Henle, coupled with increased urinary excretion of potassium and hydrogen, which leads to hypokalemic alkalosis. Bartter syndrome type IV, caused by loss-of-function mutations in barttin, a subunit of chloride channel CLC-Kb expressed in the kidney and inner ear, usually occurs in the antenatal-neonatal period. We report an unusual case of late onset presentation of Bartter syndrome IV and mild phenotype in a 20 years-old man who had hypokalemia, deafness, secondary hyperparathyroidism and erythrocytosis.

Original languageEnglish
Pages (from-to)604-606
Number of pages3
JournalEinstein (São Paulo, Brazil)
Volume13
Issue number4
DOIs
Publication statusPublished - 1 Oct 2015

Fingerprint

Bartter Syndrome
Polycythemia
Phenotype
Alkalosis
Mutation
Chloride Channels
Secondary Hyperparathyroidism
Hypokalemia
Deafness
Inner Ear
Hydrogen
Potassium
Extremities
Salts
Sodium
Kidney
Genes

Keywords

  • Bartter syndrome
  • Hypokalemia
  • Chloride channels
  • Case reports

Cite this

Heilberg, Ita P feferman ; Tótoli, Cláudia ; Calado, Joaquim T omaz. / Adult presentation of Bartter syndrome type IV with erythrocytosis. In: Einstein (São Paulo, Brazil). 2015 ; Vol. 13, No. 4. pp. 604-606.
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Adult presentation of Bartter syndrome type IV with erythrocytosis. / Heilberg, Ita P feferman; Tótoli, Cláudia; Calado, Joaquim T omaz.

In: Einstein (São Paulo, Brazil), Vol. 13, No. 4, 01.10.2015, p. 604-606.

Research output: Contribution to journalArticle

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