Longitudinal Statistical Analysis and Phenotypic Characterization of a Salt-Wasting Tubulopathy Cohort: Gitelman and Bartter Syndromes

L. Núñez González, B. Temes Álvarez, A. Urisarri Ruiz de Cortázar, M. Gil Calvo, A. M. Barcia de la Iglesia, P. Oliveros Martínez, N. Carrera Cachaza, M. Á. García González, M. García Murias

Introduction: Inherited tubulopathies (GS/BS) show significant clinical overlap. Differential diagnosis requires integrating genetic data with multivariate clinical analysis.
Objective: To characterize a patient cohort and identify differential evolutionary patterns through longitudinal analysis.
Methods: NGS and Sanger were used for diagnosis. To handle missing data in longitudinal follow-up, Maximum Likelihood (EM) and Multiple Imputation (MICE) were applied. Variability was assessed via central tendency/dispersion (median/IQR) and non-parametric tests. Mixed-effects models were used to analyze clinical outcomes, adjusting for confounders (age, genotype).
Results: 60 individuals (43 GS, 12 BS, 5 dual carriers). At diagnosis, potassium was the most affected parameter (median 3.1 mEq/L). High phenotypic heterogeneity was observed.
Conclusions: The variability found challenges the GS/BS dichotomy, requiring dynamic prognostic models for personalized management.

Palabras clave: Tubulopathies Gitelman Bartter Longitudinal Retrospective Population study.

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