Phosphate homeostasis in Bartter syndrome: a case–control study

Bettinelli, Alberto; Viganò, Cristina; Provero, Maria Cristina; Barretta, Francesco; Albisetti, Alessandra; Tedeschi, Silvana; Scicchitano, Barbara; Bianchetti, Mario G.

doi:10.1007/s00467-014-2846-z

Cited by 9 publications

(14 citation statements)

References 15 publications

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“…(61) In addition, Bartter syndrome type 1 (neonatal), which is characterized by metabolic alkalosis, renal hypokalemia, and secondary hyperaldosteronism, (62) and is due to mutations in the sodium-potassium-chloride co-transporter-2 gene (SLC12A1), has also been reported to be associated with hypercalcemia, hypercalciuria, and nephrocalcinosis. (62)(63)(64) However, the hypercalcemia was associated with increased circulating PTH concentrations, which may be explained by an inappropriate response to hypocalcemia secondary to hypercalciuria (63) and is consistent with marginally increased circulating PTH concentrations that have been reported in other, older children with Bartter syndrome. (64)…”

Section: Renal Tubular Disorderssupporting

confidence: 79%

“…(62)(63)(64) However, the hypercalcemia was associated with increased circulating PTH concentrations, which may be explained by an inappropriate response to hypocalcemia secondary to hypercalciuria (63) and is consistent with marginally increased circulating PTH concentrations that have been reported in other, older children with Bartter syndrome. (64)…”

Section: Renal Tubular Disorderssupporting

confidence: 79%

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Hypercalcemic Disorders in Children

Stokes

Nielsen

Hannan

et al. 2017

Journal of Bone and Mineral Research

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Hypercalcemia is defined as a serum calcium concentration that is greater than two standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive, and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms. The causes of hypercalcemia in children can be classified as parathyroid hormone (PTH)‐dependent or PTH‐independent, and may be congenital or acquired. PTH‐independent hypercalcemia, ie, hypercalcemia associated with a suppressed PTH, is commoner in children than PTH‐dependent hypercalcemia. Acquired causes of PTH‐independent hypercalcemia in children include hypervitaminosis; granulomatous disorders, and endocrinopathies. Congenital syndromes associated with PTH‐independent hypercalcemia include idiopathic infantile hypercalcemia (IIH), William's syndrome, and inborn errors of metabolism. PTH‐dependent hypercalcemia is usually caused by parathyroid tumors, which may give rise to primary hyperparathyroidism (PHPT) or tertiary hyperparathyroidism, which usually arises in association with chronic renal failure and in the treatment of hypophosphatemic rickets. Acquired causes of PTH‐dependent hypercalcemia in neonates include maternal hypocalcemia and extracorporeal membrane oxygenation. PHPT usually occurs as an isolated nonsyndromic and nonhereditary endocrinopathy, but may also occur as a hereditary hypercalcemic disorder such as familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, and familial isolated primary hyperparathyroidism, and less commonly, as part of inherited complex syndromic disorders such as multiple endocrine neoplasia (MEN). Advances in identifying the genetic causes have resulted in increased understanding of the underlying biological pathways and improvements in diagnosis. The management of symptomatic hypercalcemia includes interventions such as fluids, antiresorptive medications, and parathyroid surgery. This article presents a clinical, biochemical, and genetic approach to investigating the causes of pediatric hypercalcemia. © 2017 The Authors. Journal of Bone and Mineral Research Published by Wiley Periodicals Inc.

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Section: Renal Tubular Disorderssupporting

confidence: 79%

Section: Renal Tubular Disorderssupporting

confidence: 79%

Hypercalcemic Disorders in Children

Stokes

Nielsen

Hannan

et al. 2017

Journal of Bone and Mineral Research

View full text Add to dashboard Cite

show abstract

“…-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%

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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“…A recent case-control study by Bettinelli et al [4] examined phosphate homeostasis in Bartter syndrome. The authors noted that hypercalciuria and nephrocalcinosis were well described in patients with this rare disease, but characterization of phosphate and calciotropic hormones in this disorder was quite limited.…”

Section: Case Seriesmentioning

confidence: 98%

Basics of Clinical Investigation

Furth¹,

Fadrowski²

2014

Pediatric Nephrology

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How can we best evaluate, treat, and assess long-term risks for children with kidney disease? Who is at risk of developing end-stage renal disease (ESRD) in childhood or young adulthood? Clinicians are often faced with questions such as these with uncertain answers in the practice of pediatric nephrology. Parents ask, "Why did my child get this disease?" "What is the most effective method to treat this condition?" "What's the prognosis of this condition in my child?" Frequently, these answers are not known, and these questions are the inspiration for high-quality clinical research. The first step in developing a valuable clinical study is determining whether the initial query can be translated into a good research question. Hallmarks of a Good Research QuestionA good research question gives useful information, is interesting to the researcher, builds on what is known, and can be answered with available resources. Research is a labor of love, demanding attention to detail, perseverance, honesty, and imagination. Developing a good research question is an iterative process. One needs input from knowledgeable colleagues and collaborators. The researcher must become thoroughly familiar with what is already known about the topic by reviewing the literature and consulting with experts in the area. Investigating what is already known has several benefits. First, it can reveal that the candidate research question has already been answered adequately. Second, learning what is already known provides insight into potentially useful methods for addressing a research question. For example, previous studies may demonstrate good ways to measure a variable of interest or provide background information for determining sample size. Third, a literature review may suggest ways to frame the research question at hand. For example, a literature review may reveal that particular risk factors are consistently associated with a disease process, and an intervention to modify these risk factors may form a sound basis for a clinical trial.Finally, a good research question needs to be answerable with available resources. These include subjects available for study, technical expertise of the research staff, and the time and money that can be devoted to the project. Once a question is framed, the researcher needs to outline the study protocol or methods, which include specifying the recruitment method, number of subjects and how they will be recruited, how each variable will be defined, and the plan for data analysis. A poorly designed study is worse than no study at all because, like imprecise measurements and an improper analytic plan, it can also lead to false conclusions.

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Phosphate homeostasis in Bartter syndrome: a case–control study

Abstract: The results of this study demonstrate a tendency towards renal phosphate wasting and elevated circulating PTH levels in Bartter patients.

Cited by 9 publications

References 15 publications

Hypercalcemic Disorders in Children

Hypercalcemic Disorders in Children

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

Basics of Clinical Investigation

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