Adult presentation of Bartter syndrome type IV with erythrocytosis
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 increa...
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| Outros Autores: | , |
| Formato: | article |
| Idioma: | eng |
| Publicado em: |
2018
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| Texto completo: | https://doi.org/10.1590/S1679-45082015RC3013 |
| País: | Portugal |
| Oai: | oai:run.unl.pt:10362/42340 |