What question did this study set out to answer?

The aim is to identify clinical and genetic characteristics of Alport syndrome that influence treatment options.

March 28, 2026Open Access

Wcn26-4455 Real-World Clinical and Pathological Characteristics of Geneticlly Confirmed Alport Syndrome

Key Points

The aim is to identify clinical and genetic characteristics of Alport syndrome that influence treatment options.
Analyzed genetic data from patients with confirmed Alport syndrome
Examined the relationship between NEDD4L mutations and clinical features
Assessed treatment responses, especially to amiloride
NEDD4L was identified as a significant genetic factor for hypertension, NDI, and SNHL
LiNDID patients showed rapid improvement with amiloride treatment
Explanations for unexplained LS, NDI, or SNHL are suggested through NEDD4L associations.

Abstract

Conclusion: NEDD4L should be added to genetic panels for hypertension, NDI and SNHL, and NEDD4L-LiNDID should be suspected in patients with unexplained LS, NDI or SNHL.LiNDID patients will rapidly benefit from treatment with amiloride, an effective, cheap, and widely available life-saving drug.Note: An earlier version of this work, presenting only one affected patient and less functional work, was presented at ASN meeting in 2023.I have no potential conflict of interest to disclose.I did not use generative AI and AI-assisted technologies in the writing process.

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Cite This Study

Yagi et al. (Wed,) studied this question.

synapsesocial.com/papers/69c770888bbfbc51511e09b5 https://doi.org/https://doi.org/10.1016/j.ekir.2026.105119

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