An improved terminology and classification of Bartter-like syndromes

@article{Seyberth2008AnIT,
  title={An improved terminology and classification of Bartter-like syndromes},
  author={H. Seyberth},
  journal={Nature Clinical Practice Nephrology},
  year={2008},
  volume={4},
  pages={560-567}
}
  • H. Seyberth
  • Published 2008
  • Medicine
  • Nature Clinical Practice Nephrology
This Review outlines a terminology and classification of Bartter-like syndromes that is based on the underlying causes of these inherited salt-losing tubulopathies and is, therefore, more clinically relevant than the classical definition. Three major types of salt-losing tubulopathy can be defined: distal convoluted tubule dysfunction leading to hypokalemia (currently known as Gitelman or Bartter syndrome), the more-severe condition of polyuric loop dysfunction (often referred to as antenatal… Expand
Bartter and Gitelman syndromes: Questions of class
TLDR
What is known about the physiology of the transport proteins involved in Bartter and Gitelman syndromes is reviewed and why a gene-based classification constitutes a pragmatic solution is explained. Expand
Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects
TLDR
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Given the rarity of the syndrome, and the lack of genetic characterization in most cases, limited clinical evidence for treatment is available and the therapy is based mainly on the comprehension of renal physiology and relies on the physician's personal experiences. Expand
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TLDR
The disease name “inherited salt‐losing tubulopathy” can be used for cases of tubulopathies accompanied by hypokalemia and metabolic alkalosis and it is reasonable to use this term prior to genetic typing into type 1–5 BS or GS, to avoid confusion in a clinical setting. Expand
Clinico-genetic specifications of Bartter and Gitelman syndrome in children
TLDR
The article presents modern literature data on the genetic types of tubulopathy with the leading syndrome of hypokalemia and alkalosis – Bartter and Gitelman syndromes in children. Expand
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TLDR
An unusual case of a very late diagnosis of an attenuated type IV Bartter syndrome is presented, and the suspicion of the G47R mutation in the ß-subunit (Barttin) of the ClC-K chloride channels was confirmed by genetic sequencing. Expand
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TLDR
Genetic studies revealed the complexity of ion transport in the thick ascending limb of the loop of Henle and will help to clarify the pathophysiology, which is essential to design new therapies. Expand
ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.
TLDR
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Salt-Losing Tubulopathies in Children: What's New, What's Controversial?
TLDR
Clinical and molecular aspects of salt-losing tubulopathies are reviewed and novel insights provided mainly by genetic investigations and retrospective clinical reviews are discussed to highlight areas of importance for future clinical trials. Expand
Pathophysiology and clinical presentations of salt-losing tubulopathies
TLDR
In isolated TAL defects (loop disorders) ASDT adaptation is supported by upregulation of DCT, whereas in DCT disorders the ASDT is complemented byUpregulation of TAL function, which has a major impact on the clinical presentation of SLT patients. Expand
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