Intraoperative Parathyroid Hormone Monitoring in Neonatal Severe Primary Hyperparathyroidism

García-García, Emilio; Domínguez-Pascual, Inmaculada; Requena-Díaz, Mercedes; Cabello-Laureano, Rosa; Fernández-Pineda, Israel; Sánchez-Martín, María J.

doi:10.1542/peds.2013-3668

Cited by 13 publications

(3 citation statements)

References 16 publications

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“…Medical treatment of NSHPT includes also intravenous hyper-hydration, diuretics and bisphosphonates. However, total or subtotal parathyroidectomy is still the treatment of choice often needed even if very difficult in newborns [ 9 ] . We report the case of a newborn with NSHPT due to a homozygously inherited mutation not previously described, treated first medically and then by subtotal parathyroidectomy.…”

Section: Introductionmentioning

confidence: 99%

Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation

et al. 2018

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BackgroundNeonatal severe primary hyperparathyroidism (NSHPT) is a rare autosomal recessive disorder of calcium homeostasis, characterized by striking hyperparathyroidism, marked hypercalcemia and hyperparathyroid bone disease. We report the case of a newborn with a novel homozygous mutation of the CaSR, treated by successful subtotal parathyroidectomy, who had an acute presentation of the disease, i.e. out-of hospital cardiorespiratory arrest. .Case presentationA 8-day-old female newborn was admitted to the NICU of University of Bari “Aldo Moro” (Italy) after a cardiorespiratory arrest occurred at home. Severe hypercalcemia was found and different drug therapies were employed (Furosemide, Cinacalcet and bisphosphonate), as well as hyperhydration, until subtotal parathyroidectomy, was performed at day 32. Our patient’s mutation was never described before so that a strict and individualized long-term follow-up was started.ConclusionsThis case of NSHPT suggests that a near-miss event, labelled as a possible case of SIDS, could also be due to severe hypercalcemia and evidentiates the difficulties of the neonatal management of NSHPT. Furthermore, the identification of the specific CaSR mutation provides the substrate for prenatal diagnosis.

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Section: Introductionmentioning

confidence: 99%

Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation

et al. 2018

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“…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 ]. 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%

A Case of Neonatal Severe Hyperparathyroidism: Challenges in Management

Gupta

Tak

et al. 2022

Indian J Pediatr

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“…Nephrocalcinosis due to chronic calcitriol supplementation is not seen in patients with NSHPT because of decreased renal CaSR function. [ 12 13 14 15 ]…”

Section: Discussionmentioning

confidence: 99%

Neonatal severe primary hyperparathyroidism: A series of four cases and their long-term management in India

Sadacharan

Mahadevan

Rao

et al. 2020

Indian J Endocr Metab

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Context: Neonatal severe primary hyperparathyroidism (NSPHPT) is an extremely rare autosomal recessive disorder, requiring a high index of suspicion. Infants affected with this disorder present with severe life-threatening hypercalcemia early in life, requiring adequate preoperative medical management followed by surgery. Aims: We report four newborns with NSPHPT who were managed over 10 years. Subjects and Methods: Demography, clinical presentation, treatment, and follow-up data were retrospectively studied with descriptive analysis to highlight the utility of long-term medical management, surgery, and genetic testing reported in the literature. Statistical Analysis Used: Descriptive Analysis. Results: We had three males and one female infant with a mean age of diagnosis at 28.7 days, calcium 29.2+/-2.8 mg/dL, and parathormone (PTH) 1963+/-270.4 pg/mL. All four infants presented with failure to thrive, hypotonia, and respiratory distress. All infants were treated medically followed by total parathyroidectomy plus transcervical thymectomy, with an additional hemithyroidectomy in one of them. Imaging was negative in all four cases. Three babies became hypocalcemic while the fourth infant had a drop in PTH and is on the tab. cinacalcet 30 mg/day. CaSR mutation was positive in three infants. Conclusions: Diagnosing NSPHPT needs expert clinical acumen. It requires emergency medical management to control calcium levels. The crisis may present later, necessitating parathyroidectomy in these cases once the child is fit for surgery. Surgery offers a cure for this unusual lethal hypercalcemia while the role of cinacalcet needs a special mention. Sound knowledge in endocrinology with parathyroid embryology and morphology is of paramount importance. Our case series might add a few insights into managing this unusual genetic disorder.

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Intraoperative Parathyroid Hormone Monitoring in Neonatal Severe Primary Hyperparathyroidism

Cited by 13 publications

References 16 publications

Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation

Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation

A Case of Neonatal Severe Hyperparathyroidism: Challenges in Management

Neonatal severe primary hyperparathyroidism: A series of four cases and their long-term management in India

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