A rare cause of neonatal hypercalcemia: Neonatal severe primary hyperparathyroidism: A case report and review of the literature

Abdullayev, Tural; Korkmaz, Musa; Kul, Mustafa; Koray, Nuray

doi:10.1016/j.ijscr.2019.12.024

Cited by 14 publications

(9 citation statements)

References 19 publications

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“…It is often challenging in newborns due to limited surgical field and small-sized glands. Preoperative localization of parathyroid gland using MRI, CECT neck, sestamibi scan, or contrast USG is often attempted but is rarely of any help [ 6 ]. Monitoring of intraoperative PTH levels is useful; as PTH has short half-life, results are available within 10–20 min and rapid decline in levels suggest successful removal of all parathyroid tissue [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

“…Monitoring of intraoperative PTH levels is useful; as PTH has short half-life, results are available within 10–20 min and rapid decline in levels suggest successful removal of all parathyroid tissue [ 7 ]. Failure of PTH levels to return to normal range suggests incomplete parathyroidectomy or presence of ectopic gland which may be located in thymus, intrathyroidal area, posterior mediastinum, or retropharyngeal area [ 6 , 8 ].…”

Section: Discussionmentioning

confidence: 99%

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A Case of Neonatal Severe Hyperparathyroidism: Challenges in Management

Gupta

Tak

et al. 2022

Indian J Pediatr

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A Case of Neonatal Severe Hyperparathyroidism: Challenges in Management

Gupta

Tak

et al. 2022

Indian J Pediatr

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“…Therefore, when the serum calcium levels decrease, PTH levels increase further and lead to elevation of serum calcium levels to baseline high values [8][9][10]. These common measures can be effective for a short time in severely affected cases until the definitive treatment, while their effect can last longer in non-severe cases [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][23][24][25][26][27][28][29]. PTH normalization through parathyroidectomy is the definitive treatment in NSHPT; however, this procedure can have a high morbidity and mortality, especially during neonatal and/or early infancy periods [8,9,17,24].…”

Section: Discussionmentioning

confidence: 99%

Cinacalcet as a First-Line Treatment in Neonatal Severe Hyperparathyroidism Secondary to Calcium Sensing Receptor (CaSR) Mutation

et al. 2020

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Introduction: Neonatal severe hyperparathyroidism (NSHPT) is a rare cause of neonatal hypercalcemia caused by a loss of function mutation in the calcium-sensing receptor (CaSR). Hypercalcemia in NSHPT can be life-threatening. Maintenance of serum calcium within a safe range is the primary goal of treatment through hydration, forced diuresis, and bisphosphonate treatment, nevertheless most cases require parathyroidectomy. We report a case with NSHPT diagnosed on the first day of life (DoL) and successfully treated with cinacalcet as the first-line treatment from the 2nd DoL up to the age of 18 months. Case Report: A full-term baby evaluated for weight loss at postnatal 14th hour and found to have hypercalcemia (14.4 mg/dL, reference range [RR]: 8.0–11.3). Despite hydration and diuresis, hypercalcemia persisted. Further evaluation revealed a parathyroid hormone (PTH) level of 1,493 pg/mL (RR: 15–65) and urine Ca/Cr of 0.09 mg/mg (RR: 0.03–0.81). Cinacalcet treatment was initiated on the 2nd DoL with the diagnosis of NSHPT due to hypocalciuric hypercalcemia and elevated PTH level. Ca levels decreased to normal levels on the 7th DoL. She was discharged from hospital at postnatal day 15 on cinacalcet treatment and still continued at 18 months of age. Sequencing of CaSR revealed a novel homozygous c.1836G>A (p.G613E) mutation in the patient, for which the parents and sister were heterozygous. Conclusion: This case represents the youngest age at cinacalcet initiation and the longest duration without parathyroidectomy in a homozygous NSHPT and demonstrates that cinacalcet is an effective first-line treatment in patients who are responsive to this treatment modality and allows avoiding/delay in surgical intervention in NSHPT.

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“…Neonatal severe primary hyperparathyroidism (NSHPT) is a rare, potentially life-threatening autosomal recessive disease characterized by severe hyperparathyroidism, marked hypercalcemia, and metabolic bone disease (1). Patients mainly present with poor feeding, failure to thrive, hypotonia, lethargy, polyuria, dehydration, respiratory distress, intestinal dysmotility, and skeletal demineralisation during the first few weeks after birth (2)(3)(4)(5)(6).…”

Section: Introductionmentioning

confidence: 99%

“…If not promptly diagnosed and treated, NSHPT can be associated with high mortality or irreversible neurodevelopmental, renal, skeletal, or cardic complications (2). Although successful medical management of NSHPT has been recently reported (3,4), early parathyroidectomy followed by calcium supplementation and regular monitoring of serum calcium and PTH levels has been traditionally recommended as the definite therapy of NSHPT (2,5,6). However, neuromotor abnormalities may persist even after otherwise successful treatment of NSHPT patients, which warrants the long-term follow-up of these patients (1).…”

Section: Introductionmentioning

confidence: 99%