Late onset Bartter syndrome: Bartter syndrome type 2 presenting with isolated nephrocalcinosis and high parathyroid hormone levels mimicking primary hyperparathyroidism
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Gizem Yıldız
,
Meral Torun Bayram
,
Tayfun Çinleti
,
Altuğ Koç
,
Alper Soylu
und
Salih Kavukçu
Abstract
Objectives
Nephrocalcinosis is associated with conditions that cause hypercalcemia and the increased urinary excretion of calcium, phosphate, and/or oxalate. A monogenic etiology is found in almost 30% of childhood-onset nephrocalcinosis which is also a common manifestation of primary hyperparathyroidism. We discuss a child with nephrocalcinosis and features mimicking primary hyperparathyroidism.
Case presentation
A 7-year-old girl presented with nephrocalcinosis. Hypercalciuria, hyperphosphaturia, mild hypercalcemia, hypophosphatemia and elevated parathyroid hormone levels along with normal serum creatinine and absence of hypokalemic alkalosis suggested primary hyperparathyroidism. However, she was ultimately diagnosed with Bartter syndrome type 2 based on the presence of homozygous pathogenic variation in KCNJ1gene.
Conclusions
This is the second reported case of late-onset Bartter syndrome type 2 without hypokalemic alkalosis. Patients with Bartter syndrome may present with high parathyroid hormone levels and hypercalcemia in addition to hypercalciuria. Thus, the present case suggests that the KCNJ1 gene should be included in genetic analysis even in older children with isolated nephrocalcinosis.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from the mother of the patient.
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Ethical approval: Not applicable.
References
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Artikel in diesem Heft
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Artikel in diesem Heft
- Frontmatter
- Original Articles
- Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns
- Use of letrozole to augment height outcome in pubertal boys: a retrospective chart review
- Study of the frequency and clinical features of maturity-onset diabetes in the young in the pediatric and adolescent diabetes population in Iran
- Iatrogenic hyperthyroidism in primary congenital hypothyroidism: prevalence and predictive factors
- Utility of head CT scan in treatment decisions for suspected cerebral edema in children with DKA
- Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
- Performance of glucagon stimulation test in diagnosing central adrenal insufficiency in children when utilising the Roche Elecsys® cortisol II assay: a pilot study
- Effects and dose-response relationship of exercise training on cardiometabolic risk factors in children with obesity
- Biochemical indicators of euthyroid sick syndrome in critically ill children
- Short Communication
- Parental marital relationship satisfaction predicts glycemic outcomes in children with type 1 diabetes
- Case Reports
- Late onset Bartter syndrome: Bartter syndrome type 2 presenting with isolated nephrocalcinosis and high parathyroid hormone levels mimicking primary hyperparathyroidism
- Three pediatric cases of symptomatic hyponatremia in Prader–Willi syndrome
- Identification of a novel mutation in FGFR1 gene in mother and daughter with Kallmann syndrome
- Exaggerated mini-puberty in a preterm girl: a case report and review of literature
- Diabetic ketoacidosis masquerading behind alkalemia an undiagnosed or missed variant of diabetic ketoacidosis
