ReviewJournal of the American Society of Nephrology : JASN2018
Salt-Losing Tubulopathies in Children: What's New, What's Controversial?
Review in Journal of the American Society of Nephrology : JASN, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 84 citations in OpenAlex.
- Dent disease: clinical practice recommendations.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025Guideline
- Failure to thrive in children with tubulopathies.Pediatric nephrology (Berlin, Germany) · 2026Review
- Description of the novel variant c.784delG;p. (Ala262Profs*68) atBiomedical reports · 2026Article
- Identification of novel pathogenic mutations inRenal failure · 2025Article
- Tubular proteinuria due to hereditary endocytic receptor disorder of the proximal tubule: Dent disease and chronic benign proteinuria.Pediatric nephrology (Berlin, Germany) · 2025Review
- Aldosterone: From Essential Tubular Regulator to Pathological Driver-Physiology, Disease, and Therapeutic Advances.International journal of molecular sciences · 2025Review
- RNA-binding proteins regulate immune-related alternative splicing in inherited salt-losing tubulopathies.Orphanet journal of rare diseases · 2025Article
- Distinct cell types along thick ascending limb express pathways for monovalent and divalent cation transport.JCI insight · 2025Article
- Functional properties of the γ-ENaC-A635V mutation in a patient with severe hyponatremia.Hormones (Athens, Greece) · 2025Article
- Unmasking Distal Renal Tubular Acidosis in a Young Female: A Case of Metabolic Acidosis With Hypokalemic Paraparesis.Cureus · 2025Article
- Fetal umbilical vein thrombosis associated with fetal bartter syndrome: an unusual case report and literature review.BMC pregnancy and childbirth · 2025Review
- Tandem Upregulation of Ion Transporters in Thick Ascending Limb of Henle's Loop of Young Milan Hypertensive Strain of Rats.Kidney & blood pressure research · 2025Article
- Type 1 Bartter syndrome presenting as primary diabetes insipidus: a rare Case Report with 8-year follow-up.Frontiers in genetics · 2025Article
- Clinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation.Molecular genetics and metabolism reports · 2024Article
- Renal Hypokalemia: An Endocrine Perspective.The Journal of clinical endocrinology and metabolism · 2024Review
- [Consensus recommendations on the diagnosis and treatment of hyponatremia from the Austrian Society for Nephrology 2024].Wiener klinische Wochenschrift · 2024Article
- Failure to thrive in children with tubulopathies increases the risk of overweight later in life.International journal of obesity (2005) · 2024Article
- Dysregulation of the WNK4-SPAK/OSR1 pathway has a minor effect on baseline NKCC2 phosphorylation.American journal of physiology. Renal physiology · 2024Article
- Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.Genome medicine · 2023Article
- Inherited Fanconi syndrome.World journal of pediatrics : WJP · 2023Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Renal tubulopathies provide insights into the inner workings of the kidney, yet also pose therapeutic challenges. Because of the central nature of sodium in tubular transport physiology, disorders of sodium handling may affect virtually all aspects of the homeostatic functions of the kidney. Yet, owing to the rarity of these disorders, little clinical evidence regarding treatment exists. Consequently, treatment can vary widely between individual physicians and centers and is based mainly on understanding of renal physiology, reported clinical observations, and individual experiences. Salt-losing tubulopathies can affect all tubular segments, from the proximal tubule to the collecting duct. But the more frequently observed disorders are Bartter and Gitelman syndrome, which affect salt transport in the thick ascending limb of Henle's loop and/or the distal convoluted tubule, and these disorders generate the greatest controversies regarding management. Here, we review clinical and molecular aspects of salt-losing tubulopathies and discuss novel insights provided mainly by genetic investigations and retrospective clinical reviews. Additionally, we discuss controversial topics in the management of these disorders to highlight areas of importance for future clinical trials. International collaboration will be required to perform clinical studies to inform the treatment of these rare disorders.
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