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Lookup NU author(s): Professor John SayerORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2025 International Society of Nephrology. Introduction: Gitelman syndrome (GS) is a rare inherited salt-losing tubulopathy with limited clinical data. Methods: Surveys were conducted with GS physicians in Europe and patients with GS in the Netherlands to compare findings with the general population. Results: Data from 587 patients (25% pediatric) across 13 countries showed 93% were genotyped, with 94% having variants in SLC12A3. Children with GS were shorter and lighter than the general population, with lower bodyweight persisting into adulthood. The sex distribution was uneven, with more males in childhood and more females in adulthood. Patients with GS had the expected electrolyte disorders as well as significantly lower blood phosphate levels. Positive correlations were found between blood magnesium and potassium, and potassium and aldosterone. Physicians reported muscle cramps, salt craving, and muscle weakness as most common GS symptoms. Patients with GS scored worse than the general population in fatigue, physical, and cognitive function; and ranked salt craving and polydipsia-polyuria as the most severe symptoms. Symptom burden was higher in adult females and patients with lower blood magnesium. Treatment mainly consisted of potassium (94%) and magnesium (50%) supplementation. Potassium-sparing medication (used in 33%) slightly increased blood potassium levels (3.2 vs. 3.1 mmol/l). Adult patients with GS had a high prevalence of chondrocalcinosis (15%) and elevated blood cell counts (26%). Compared with the general population, adult patients with GS had lower rates of chronic kidney disease (CKD) and hypertension, a similar rate of diabetes, but a higher rate of albuminuria or proteinuria (28%). Conclusions: These findings provide new insights into GS, highlight disease burden, and suggest areas for future research.
Author(s): Wieers MLAJ, Allard L, D'Ambrosio V, Arango-Sancho P, de Baaij JHF, Becherucci F, Bertholet-Thomas A, Besouw M, Blanchard A, Cacciapuoti M, Carbone V, Cornelissen EA, Daffara F, Degenhardt J, Devuyst O, Dorresteijn E, Evans R, Figueres L, Fila M, Giliberti M, Gillion V, Haumann S, Hawkins - van der Cingel G, Houillier P, Hureaux M, Knauf F, Knebelmann B, Konrad M, Kwon T, Lemoine S, Longo G, Nijenhuis T, Engberink RHGO, Duro HR, Saadee C, Sayer JA, Schlingmann K-P, Simon T, Speeckaert MM, Tan HL, Trepiccione F, Vargas-Poussou R, Veligratti F, Walsh SB, Salih M, Imenez Silva PH, Hoorn EJ, Aunon P, Bockenhauer D, Conlon PJ, Erhardt C, Flammier S, Gomez CB, Guven S, Hawkins G, Halbritter J, Herthelius M, Herreros A, Klaric D, Ledo N, Marzuillo P, Schafer S, Schmitt R, Stanczyk M, Taroni F, Zagorec N
Publication type: Article
Publication status: Published
Journal: Kidney International Reports
Year: 2025
Pages: Epub ahead of print
Online publication date: 04/09/2025
Acceptance date: 01/09/2025
Date deposited: 08/10/2025
ISSN (electronic): 2468-0249
Publisher: Elsevier Inc.
URL: https://doi.org/10.1016/j.ekir.2025.09.006
DOI: 10.1016/j.ekir.2025.09.006
Data Access Statement: All data are available in the main text or in the Supplementary Material. Raw data sets are available by request to the corresponding author.
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