Accentuated hyperparathyroidism in type II Bartter syndrome

Landau, Daniel; Gurevich, Evgenia; Sinai-Treiman, Levana; Shalev, Hadar

doi:10.1007/s00467-016-3337-1

Cited by 10 publications

(15 citation statements)

References 24 publications

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“…While the former were present, serum levels of magnesium were normal in this patient. High PTH levels, have been shown in a large cohort of patients with BS type 2, and attributed to persistent hypercalciuria [13].…”

Section: Discussionmentioning

confidence: 95%

Isolated nephrocalcinosis due to compound heterozygous mutations in renal outer medullary potassium channel

et al. 2020

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Identification of a monogenic etiology is possible in a proportion of patients with childhood-onset nephrolithiasis or nephrocalcinosis. Bartter syndrome (BS), a hereditary tubulopathy characterized by polyuria, hypokalemic alkalosis and growth retardation that rarely presents with isolated nephrocalcinosis. Patients with defect in renal outer medullary potassium channel, encoded by the KCNJ1 gene causing BS type 2, typically present during the neonatal period. We describe a 14-yearold girl with mild late-onset BS type 2 with reported pathogenic compound heterozygous variations in exon 2 of KCNJ1 (c.146G > A and c.657C > G). This patient presented with isolated medullary nephrocalcinosis due to hypercalciuria; absence of hypokalemia and metabolic alkalosis was unique. This case highlights the importance of screening the KCNJ1 gene in patients with hypercalciuria and nephrocalcinosis, even in older children.

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Section: Discussionmentioning

confidence: 95%

Isolated nephrocalcinosis due to compound heterozygous mutations in renal outer medullary potassium channel

et al. 2020

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“…-Further studies are necessary to understand the pathophysiology of these abnormalities and to demonstrate whether PTH and/or phosphate should be a treatment target in these salt- In recent years, several investigators have observed abnormal levels of parathyroid hormone (PTH) and serum phosphate in patients with Bartter and Gitelman syndrome [3][4][5][6][7][8][9][10][11][12][13] . Patients with Bartter syndrome tend to have a high PTH [3][4][5][6][7][8][9] . However, the prevalence and pathophysiology of hyperparathyroidism in these Bartter patients are unclear.…”

Section: What Impact This May Have On Practice or On Policy?mentioning

confidence: 99%

“…Bartter syndrome 3,5 . In patients with Gitelman syndrome, high PTH levels have only been described in patients that had parathyroid adenoma 14,15 , while hypophosphatemia has been reported in several small studies [10][11][12][13] and has been attributed to renal phosphate wasting 12,13 .…”

Section: What Impact This May Have On Practice or On Policy?mentioning

confidence: 99%

Section: O R I Gmentioning

confidence: 99%

“…To date, hyperparathyroidism in these disorders has only been described in case reports and small series [3][4][5][6][7][8][9] . For example, Landau et al observed high PTH levels in 10/14 patients with Bartter syndrome type II 5 . Additional small studies did not include genetic characterization 3,6 , while others included only type I and II Bartter syndrome 4,[7][8][9] .…”

Section: O R I Gmentioning

confidence: 99%

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

Verploegen

Vargas‐Poussou

Walsh

et al. 2022

Nephrology Dialysis Transplantation

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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 Pediatric Nephrology (ESPN). Results 285 patients with Bartter syndrome and 304 patients with Gitelman syndrome were included for analysis. Patients with Bartter syndrome type I & 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 & II patients with hyperparathyroidism (2.42 vs. 2.49 mmol/l; p = 0.038) compared to those with normal PTH levels and correlated inversely with PTH (rs -0.253; p = 0.009). 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 TmP/GFR (rs 0.699; p < 0.001), suggesting renal phosphate wasting. Conclusions Hyperparathyroidism is frequent in patients with Bartter syndrome type I & II. Low serum phosphate is observed in a significant number of patients with Bartter and Gitelman syndrome and appears associated with renal phosphate wasting.

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Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3

et al. 2019

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Accentuated hyperparathyroidism in type II Bartter syndrome

Abstract: PTH, serum Pi levels, and urinary threshold for Pi reabsorption are significantly elevated in type II vs. type IV BS, suggesting a PTH resistance state. This may be a response to more severe long-standing hypercalciuria, leading to a higher rate of nephrocalcinosis in BS-II.

Cited by 10 publications

References 24 publications

Isolated nephrocalcinosis due to compound heterozygous mutations in renal outer medullary potassium channel

Isolated nephrocalcinosis due to compound heterozygous mutations in renal outer medullary potassium channel

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

Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3

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