Abstract | PURPOSE: PATIENTS AND METHODS: The phenotypic characteristics of 65 patients with molecular defects in NKCC2, ROMK, ClC-Kb, or NCCT were collected retrospectively. RESULTS: ROMK and NKCC2 patients presented with polyhydramnios, nephrocalcinosis, and hypo- or isosthenuria. Hypokalemia was less severe in the ROMK patients compared with the NKCC2 patients. In contrast, NCCT patients had hypocalciuria, hypomagnesemia, and marked hypokalemia. While this dissociation of renal calcium and magnesium handling was also observed in some ClC-Kb patients, a few ClC-Kb patients presented with hypercalciuria and hypo- or isosthenuria. CONCLUSIONS: ROMK, NKCC2, and NCCT mutations usually have uniform clinical presentations, whereas mutations in ClC-Kb occasionally lead to phenotypic overlaps with the NCCT or, less commonly, with the ROMK/NKCC2 cohort. Based on these results, we propose an algorithm for the molecular diagnosis of hypokalemic salt-losing tubulopathies.
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Authors | Melanie Peters, Nikola Jeck, Stephan Reinalter, Andreas Leonhardt, Burkhard Tönshoff, G ünter Klaus G, Martin Konrad, Hannsjörg W Seyberth |
Journal | The American journal of medicine
(Am J Med)
Vol. 112
Issue 3
Pg. 183-90
(Feb 15 2002)
ISSN: 0002-9343 [Print] United States |
PMID | 11893344
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Carrier Proteins
- KCNJ1 protein, human
- Potassium Channels
- Potassium Channels, Inwardly Rectifying
- Receptors, Drug
- SLC12A1 protein, human
- SLC12A3 protein, human
- Sodium Chloride Symporters
- Sodium-Potassium-Chloride Symporters
- Solute Carrier Family 12, Member 1
- Solute Carrier Family 12, Member 3
- Symporters
- thiazide receptor
- Potassium
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Topics |
- Algorithms
- Carrier Proteins
(genetics)
- Gestational Age
- Humans
- Hypokalemia
(drug therapy, genetics, physiopathology)
- Infant, Newborn
- Linear Models
- Mutation
- Phenotype
- Potassium
(therapeutic use)
- Potassium Channels
(genetics)
- Potassium Channels, Inwardly Rectifying
- Receptors, Drug
- Renal Tubular Transport, Inborn Errors
(genetics, metabolism)
- Sodium Chloride Symporters
- Sodium-Potassium-Chloride Symporters
(genetics)
- Solute Carrier Family 12, Member 1
- Solute Carrier Family 12, Member 3
- Symporters
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