WCN26-2869 HYPOKALEMIA IN EAST/SESAME SYNDROME: POTENTIAL ROLE OF mTOR PATHWAY

Peng Wu; Ying Yang; Rui-Juan Zhang; Fei-Hong Li; Zhong-Xiuzi Gao

doi:10.1016/j.ekir.2026.105938

March 25, 2026Kidney International ReportsOpen Access

WCN26-2869 HYPOKALEMIA IN EAST/SESAME SYNDROME: POTENTIAL ROLE OF mTOR PATHWAY

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Key Points

The aim is to explore how mutations in KCNJ10 affect hypokalemia through the involvement of the mTOR pathway in the distal convoluted tubule.
Utilized genetic analysis to confirm mutations in KCNJ10.
Investigated Kir4.1 deletion effects in distal convoluted tubule cells.
Examined ENaC activity regulation by mTOR signaling.
Kir4.1 deletion was linked to increased ENaC activity.
mTOR-dependent mechanisms were suggested as mediators of this increase.
Findings indicate a direct role of the mTOR pathway in hypokalemia associated with EAST/SeSAME syndrome.

Implication

Investigates the mTOR pathway's impact on hypokalemia in East/SeSAME syndrome, suggesting potential therapeutic avenues.

Abstract

Loss-of-function mutations in KCNJ10, encoding Kir4.1, cause EAST/SeSAME syndrome, with renal salt-wasting tubulopathy and hypokalemia. We hypothesized that Kir4.1 deletion specifically in the distal convoluted tubule (DCT) stimulates epithelial sodium channel (ENaC) activity via the mammalian target of rapamycin (mTOR)-dependent mechanisms, contributing to hypokalemia.

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Cite This Study

Wu et al. (2026) studied this question.

synapsesocial.com/papers/69c6204c15a0a509bde18bef https://doi.org/10.1016/j.ekir.2026.105938

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WCN26-2869 HYPOKALEMIA IN EAST/SESAME SYNDROME: POTENTIAL ROLE OF mTOR PATHWAY

Key Points

Implication

Abstract

Discussion

Cite This Study

WCN26-2869 HYPOKALEMIA IN EAST/SESAME SYNDROME: POTENTIAL ROLE OF mTOR PATHWAY

Key Points

Implication

Abstract

Discussion

Cite This Study

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