2026-04-13T03:09:06Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/86052025-10-24T10:26:45Zcom_2072_378070com_2072_378040col_2072_378092

00925njm 22002777a 4500 dc Verploegen, Maartje author Vargas-Poussou, Rosa author Walsh, Stephen B. author Alpay, Harika author Amouzegar, Atefeh author Perelló Carrascosa, Manel author Ariceta Iraola, Gema author 2022-12-05T09:37:46Z 2022-12-05T09:37:46Z 2022-12 Bartter syndrome; Parathyroid hormone; Phosphate Síndrome de Bartter; Hormona paratiroidea; Fosfato Síndrome de Bartter; Hormona paratiroïdal; Fosfat Background Small cohort studies have reported high parathyroid hormone (PTH) levels in patients with Bartter syndrome and lower serum phosphate levels have anecdotally been reported in patients with Gitelman syndrome. In this cross-sectional study, we assessed PTH and phosphate homeostasis in a large cohort of patients with salt-losing tubulopathies. Methods Clinical and laboratory data of 589 patients with Bartter and Gitelman syndrome were provided by members of the European Rare Kidney Diseases Reference Network (ERKNet) and the European Society for Paediatric Nephrology (ESPN). Results A total of 285 patients with Bartter syndrome and 304 patients with Gitelman syndrome were included for analysis. Patients with Bartter syndrome type I and II had the highest median PTH level (7.5 pmol/L) and 56% had hyperparathyroidism (PTH >7.0 pmol/L). Serum calcium was slightly lower in Bartter syndrome type I and II patients with hyperparathyroidism (2.42 versus 2.49 mmol/L; P = .038) compared to those with normal PTH levels and correlated inversely with PTH (rs −0.253; P = .009). Serum phosphate and urinary phosphate excretion did not correlate with PTH. Overall, 22% of patients had low serum phosphate levels (phosphate—standard deviation score < −2), with the highest prevalence in patients with Bartter syndrome type III (32%). Serum phosphate correlated with tubular maximum reabsorption of phosphate/glomerular filtration rate (TmP/GFR) (rs 0.699; P < .001), suggesting renal phosphate wasting. Conclusions Hyperparathyroidism is frequent in patients with Bartter syndrome type I and II. Low serum phosphate is observed in a significant number of patients with Bartter and Gitelman syndrome and appears associated with renal phosphate wasting. This project has been supported by the European Reference Network for Rare Kidney Diseases (ERKNet), which is partly co-funded by the European Union within the framework of the Third Health Programme ‘ERN-2016-Framework Partnership Agreement 2017–2021’. This work is generated within the European Society for Paediatric Nephrology working group on inherited renal disorders. This work was supported by an Innovation Grant 19OI06 from the Dutch Kidney Foundation (to T.N.). http://hdl.handle.net/11351/8605 Ronyons - Malalties - Malformacions Hormones peptídiques Homeòstasi CHEMICALS AND DRUGS::Hormones, Hormone Substitutes, and Hormone Antagonists::Hormones::Peptide Hormones::Parathyroid Hormone DISEASES::Male Urogenital Diseases::Urologic Diseases::Kidney Diseases::Renal Tubular Transport, Inborn Errors::Gitelman Syndrome DISEASES::Male Urogenital Diseases::Urologic Diseases::Kidney Diseases::Renal Tubular Transport, Inborn Errors::Bartter Syndrome PHENOMENA AND PROCESSES::Physiological Phenomena::Homeostasis COMPUESTOS QUÍMICOS Y DROGAS::hormonas, sustitutos de hormonas y antagonistas de hormonas::hormonas::hormonas peptídicas::hormona paratiroidea ENFERMEDADES::enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales::defectos congénitos del transporte tubular renal::síndrome de Gitelman ENFERMEDADES::enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales::defectos congénitos del transporte tubular renal::síndrome de Bartter FENÓMENOS Y PROCESOS::fenómenos fisiológicos::homeostasis Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study