Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy.
HNF1B
Bartter syndrome
CASR
Gitelman syndrome
congenital chloride diarrhea
pseudo-Bartter syndrome
pseudo-Gitelman syndrome
Journal
Pediatrics international : official journal of the Japan Pediatric Society
ISSN: 1442-200X
Titre abrégé: Pediatr Int
Pays: Australia
ID NLM: 100886002
Informations de publication
Date de publication:
Apr 2020
Apr 2020
Historique:
received:
27
06
2019
revised:
11
08
2019
accepted:
21
10
2019
pubmed:
13
12
2019
medline:
1
5
2021
entrez:
13
12
2019
Statut:
ppublish
Résumé
Bartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characterized by hypokalemia and metabolic alkalosis. Clinically, BS is classified into two types: the severe antenatal/neonatal type, which develops during the fetal period with polyhydramnios and preterm delivery; and the relatively mild classic type, which is usually found during infancy with failure to thrive. GS can be clinically differentiated from BS by its age at onset, usually after school age, or laboratory findings of hypomagnesemia and hypocalciuria. Recent advances in molecular biology have shown that these diseases can be genetically classified into type 1 to 5 BS and GS. As a result, it has become clear that the clinical classification of antenatal/neonatal BS, classic BS, and GS does not always correspond to the clinical symptoms associated with the genotypes in a one-to-one manner; and there is clinically no clear differential border between type 3 BS and GS. This has caused confusion among clinicians in the diagnosis of these diseases. It has been proposed that the disease name "inherited salt-losing tubulopathy" can be used for cases of tubulopathies accompanied by hypokalemia and metabolic alkalosis. 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. In this article, we review causative genes and phenotypic correlations, diagnosis, and treatment strategies for salt-losing tubulopathy as well as the clinical characteristics of pseudo-BS/GS, which can also be called a "salt-losing disorder".
Substances chimiques
Salts
0
Solute Carrier Family 12, Member 1
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
428-437Subventions
Organisme : Grants-in-Aid for Scientific Research (KAKENHI) from the Ministry of Education, Culture, Sports, Science and Technology of Japan
ID : 19K08726
Organisme : a Research on Rare and Intractable Diseases from the Ministry of Health, Labour, and Welfare, Japan
ID : H29-nanchitou(nan)-ippan-039
Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2019 Japan Pediatric Society.
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