Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.

doi:10.1016/s0002-9343(01)01086-5

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Article

Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.

The American journal of medicine - 15 Feb 2002

Peters Melanie, Jeck Nikola, Reinalter Stephan, Leonhardt Andreas, Tönshoff Burkhard, Klaus G G ünter, Konrad Martin, Seyberth Hannsjörg W

Abstract excerpt

PURPOSE: Hypokalemic salt-losing tubulopathies (Bartter-like syndromes) comprise a set of clinically and genetically distinct inherited renal disorders. Mutations in four renal membrane proteins involved in electrolyte reabsorption have been identified in these disorders: the furosemide-sensitive sodium-potassium-chloride cotransporter NKCC2, the potassium channel ROMK, the chloride channel ClC-Kb, and the...

Topics

Algorithms
Carrier Proteins
Gestational Age
Humans
Hypokalemia
Infant, Newborn
Linear Models
Mutation
Phenotype
Potassium
Potassium Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Potassium Channels, Inwardly Rectifying

Receptors, Drug

Renal Tubular Transport, Inborn Errors

Sodium Chloride Symporters

Sodium-Potassium-Chloride Symporters

Solute Carrier Family 12, Member 1

Solute Carrier Family 12, Member 3

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Open in PubMed

Identifiers

PMID: 11893344
DOI: 10.1016/s0002-9343(01)01086-5

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