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Inherited salt‐losing tubulopathy: An old condition but a new category of tubulopathy
Author(s) -
Nozu Kandai,
Yamamura Tomohiko,
Horinouchi Tomoko,
Nagano China,
Sakakibara Nana,
Ishikura Kenji,
Hamada Riku,
Morisada Naoya,
Iijima Kazumoto
Publication year - 2020
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.14089
Subject(s) - medicine , tubulopathy , metabolic alkalosis , bartter syndrome , hypokalemia , hypocalciuria , failure to thrive , pediatrics , gitelman syndrome , hypomagnesemia , hyperaldosteronism , polyhydramnios , endocrinology , alkalosis , gastroenterology , genetics , fetus , pregnancy , acidosis , kidney disease , materials science , biology , magnesium , metallurgy , aldosterone
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”.