Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study

Maartje F.A. Verploegen, Rosa Vargas-Poussou, Stephen B. Walsh, Harika Alpay, Atefeh Amouzegar, Gema Ariceta, Bahriye Atmis, Justine Bacchetta, Peter Bárány, Stéphanie Baron, Umut Selda Bayrakci, Hendrica Belge, Martine Besouw, Anne Blanchard, Arend Bökenkamp, Olivia Boyer, Kathrin Burgmaier, Lorenzo A. Calò, Stéphane Decramer, Olivier DevuystMaria van Dyck, Pietro Manuel Ferraro, Marc Fila, Telma Francisco, Gian Marco Ghiggeri, Leire Gondra, Stefano Guarino, Nakysa Hooman, Ewout J. Hoorn, Pascal Houillier, Konstantinos Kamperis, Jameela A. Kari, Martin Konrad, Elena Levtchenko, Laura Lucchetti, Francesca Lugani, Pierluigi Marzuillo, Barian Mohidin, Thomas J. Neuhaus, Abdaldafae Osman, Svetlana Papizh, Manel Perelló, Maarten B. Rookmaaker, Valerie Said Conti, Fernando Santos, Ghalia Sawaf, Erkin Serdaroglu, Maria Szczepanska, Francesca Taroni, Rezan Topaloglu, Francesco Trepiccione, Enrico Vidal, Elizabeth R. Wan, Lutz Weber, Zeynep Yuruk Yildirim, Selçuk Yüksel, Galia Zlatanova, Detlef Bockenhauer, Francesco Emma*, Tom Nijenhuis*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

5 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)2474-2486
Number of pages13
JournalNephrology Dialysis Transplantation
Volume37
Issue number12
DOIs
Publication statusPublished - Dec 2022

Bibliographical note

Publisher Copyright:
© The Author(s) 2022.

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