Beyond expensive innovations: affordable and effective strategies for managing tubulopathies in adults

Tubulopathies comprise a heterogeneous and still poorly defined group of inherited and acquired disorders in which tubular transport is disproportionately impaired, resulting in chronic electrolyte and acid-base disturbances with downstream complications such as nephrocalcinosis, nephrolithiasis, bone fragility and, in some entities, progressive chronic kidney disease. Over the past decade, high-cost targeted therapies have transformed outcomes for a subset of tubulopathy-related disorders with secondary tubular involvement (e.g. anti-fibroblast growth factor 23 therapy in X-linked hypophosphatemia), yet comparable innovations remain largely unavailable for primary tubular transport defects and access to these therapies is uneven across healthcare systems. In this narrative review, we synthesize current evidence and expert recommendations for pragmatic, phenotype-driven interventions that support daily care and may help prevent complications. Core management still relies on non-targeted measures, including individualized nutritional counselling, optimization of hydration and solute load, and tailored electrolyte and alkali supplementation. We also discuss the rational use of widely available drugs that can be repurposed in selected tubular phenotypes, such as thiazide and thiazide-like diuretics, potassium-sparing agents, azole antifungals in calcitriol-driven hypercalcaemic states and emerging data on sodium-glucose cotransporter 2 inhibitors. Finally, we emphasize supportive care components often overlooked in 'drug-centred' approaches, including structured patient education, adherence support and monitoring of extra-renal manifestations. Overall, this review argues for a more resource-conscious approach to tubulopathies: one that recognizes the lack of a consensual definition, prioritizes phenotype-based care bundles, and underscores the urgent need for larger prospective studies incorporating patient-reported outcomes and robust economic endpoints, particularly the out-of-pocket burden borne by patients and families.

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Publication Details

Journal
Clinical Kidney Journal
Published
2026-01-08
DOI
https://doi.org/10.1093/ckj/sfag001
Primary Topic
Parathyroid Disorders and Treatments
Type
article
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article

Beyond expensive innovations: affordable and effective strategies for managing tubulopathies in adults

Louise Møldrup Nielsen, L. Figueres
Clinical Kidney Journal
Parathyroid Disorders and Treatments
article

Beyond expensive innovations: affordable and effective strategies for managing tubulopathies in adults

Louise Møldrup Nielsen, L. Figueres
article en

Abstract

Tubulopathies comprise a heterogeneous and still poorly defined group of inherited and acquired disorders in which tubular transport is disproportionately impaired, resulting in chronic electrolyte and acid-base disturbances with downstream complications such as nephrocalcinosis, nephrolithiasis, bone fragility and, in some entities, progressive chronic kidney disease. Over the past decade, high-cost targeted therapies have transformed outcomes for a subset of tubulopathy-related disorders with secondary tubular involvement (e.g. anti-fibroblast growth factor 23 therapy in X-linked hypophosphatemia), yet comparable innovations remain largely unavailable for primary tubular transport defects and access to these therapies is uneven across healthcare systems. In this narrative review, we synthesize current evidence and expert recommendations for pragmatic, phenotype-driven interventions that support daily care and may help prevent complications. Core management still relies on non-targeted measures, including individualized nutritional counselling, optimization of hydration and solute load, and tailored electrolyte and alkali supplementation. We also discuss the rational use of widely available drugs that can be repurposed in selected tubular phenotypes, such as thiazide and thiazide-like diuretics, potassium-sparing agents, azole antifungals in calcitriol-driven hypercalcaemic states and emerging data on sodium-glucose cotransporter 2 inhibitors. Finally, we emphasize supportive care components often overlooked in 'drug-centred' approaches, including structured patient education, adherence support and monitoring of extra-renal manifestations. Overall, this review argues for a more resource-conscious approach to tubulopathies: one that recognizes the lack of a consensual definition, prioritizes phenotype-based care bundles, and underscores the urgent need for larger prospective studies incorporating patient-reported outcomes and robust economic endpoints, particularly the out-of-pocket burden borne by patients and families.

Clinical Kidney JournalVol. 19(3)
Inserm (FR), Credo Reference (United States) (US), Institut de Transplantation Urologie en Nephrologie (FR), North Carolina Exploring Cultural Heritage Online (US), Nantes Université (FR)
Openalex Percentile: Top 95%
Parathyroid Disorders and Treatments
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