Two Brothers from Macedonia with Gitelman Syndrome

Two Brothers from Macedonia with Gitelman Syndrome

Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the SLC12A3 gene. The clinical features may overlap with other disorders, such as Bartter syndrome type 3, HNF1B nephropathy or even mitochondrial disease, b...

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Podrobná bibliografie
Hlavní autoři: Janchevska A, Tasic V, Jordanova O, Gucev Z, Jenkins L, Jovanovska N, Plaseska-Karanfilska D, Ashton E, Bockenhauer D
Médium: Článek
Jazyk:English
Vydáno: Sciendo 2023-07-01
Edice:Balkan Journal of Medical Genetics
Témata:
gitelman syndrome
hypokalemia
hypomagnesemia
hypocalciuria
slc12a3
On-line přístup:https://doi.org/10.2478/bjmg-2023-0009

Internet

https://doi.org/10.2478/bjmg-2023-0009

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