Severe primary hyperparathyroidism in a 3-day-old neonate
Neonatal severe primary hyperparathyroidism (NSHPT) is a rare and life-threatening autosomal recessive genetic disorder caused by a wide range of inactivating mutations in Calcium sensing receptors. We introduced a three-day-old neonate with poor feeding, failure to thrive, and lethargy. The laborat...
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| Main Authors: | , , , |
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| Format: | Book |
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Elsevier,
2021-01-01T00:00:00Z.
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| Summary: | Neonatal severe primary hyperparathyroidism (NSHPT) is a rare and life-threatening autosomal recessive genetic disorder caused by a wide range of inactivating mutations in Calcium sensing receptors. We introduced a three-day-old neonate with poor feeding, failure to thrive, and lethargy. The laboratory results showed uncontrolled hypercalcemia with hyperparathyroidism; therefore, the patient was referred to a pediatric surgeon for parathyroidectomy. We showed that neonates with NSHPT could be treated with total parathyroidectomy with autotransplant without transplant-induced hypercalcemia. |
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| Item Description: | 2213-5766 10.1016/j.epsc.2020.101719 |