Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency

Bartter syndrome and Gitelman syndrome (GS) are autosomal recessive disorders usually caused by homozygous or compound heterozygous mutations in causative genes. In some patients, these two syndromes cannot be discriminated based on clinical features or mutation type; thus, a single disease concept,...

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Vydáno v:CEN Case Rep
Hlavní autoři: Umene, Ryusuke, Kitamura, Mineaki, Arai, Hideyuki, Matsumura, Kazuki, Ishimaru, Yuka, Maeda, Kanenori, Uramatsu, Tadashi, Obata, Yoko, Mori, Takayasu, Sohara, Eisei, Uchida, Shinichi, Nishino, Tomoya
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Singapore 2020
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7502106/
https://ncbi.nlm.nih.gov/pubmed/32506365
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-020-00489-3
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