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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Detalhes bibliográficos
Publicado no:CEN Case Rep
Main Authors: Umene, Ryusuke, Kitamura, Mineaki, Arai, Hideyuki, Matsumura, Kazuki, Ishimaru, Yuka, Maeda, Kanenori, Uramatsu, Tadashi, Obata, Yoko, Mori, Takayasu, Sohara, Eisei, Uchida, Shinichi, Nishino, Tomoya
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Singapore 2020
Assuntos:
Case Report
Acesso em linha: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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