Neonatal primary hyperparathyroidism masked by vitamin D deficiency.
Neonatal primary hyperparathyroidism is a life threatening disorder that is associated with severe hypercalcaemia, hypotonia, bone demineralization, fractures and respiratory distress. Treatment consists of total parathyroidectomy and without this affected infants will usually die by the age of thre...
| Main Authors: | , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
1994
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| _version_ | 1826268820915879936 |
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| author | Meeran, K Husain, M Puccini, M Scott, H Dionisi-Vici, C Harvey, DR Lynn, J Thakker, R |
| author_facet | Meeran, K Husain, M Puccini, M Scott, H Dionisi-Vici, C Harvey, DR Lynn, J Thakker, R |
| author_sort | Meeran, K |
| collection | OXFORD |
| description | Neonatal primary hyperparathyroidism is a life threatening disorder that is associated with severe hypercalcaemia, hypotonia, bone demineralization, fractures and respiratory distress. Treatment consists of total parathyroidectomy and without this affected infants will usually die by the age of three months. We report a patient with neonatal primary hyperparathyroidism who survived without fractures or parathyroidectomy to an age of nine months, and in whom the hypercalcaemia became masked by vitamin D deficiency. At surgery, four-gland hyperplasia was demonstrated and total parathyroidectomy followed by oral calcitriol treatment has restored well-being and normocalcaemia. An absence of skeletal complications, a survival beyond three months of age without parathyroidectomy and the masking of the hypercalcaemia by vitamin D deficiency represents a unique combination of metabolic abnormalities in a patient with neonatal primary hyperparathyroidism. |
| first_indexed | 2024-03-06T21:15:29Z |
| format | Journal article |
| id | oxford-uuid:3fa5c75c-7411-41e0-955d-db94a1674003 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T21:15:29Z |
| publishDate | 1994 |
| record_format | dspace |
| spelling | oxford-uuid:3fa5c75c-7411-41e0-955d-db94a16740032022-03-26T14:33:16ZNeonatal primary hyperparathyroidism masked by vitamin D deficiency.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:3fa5c75c-7411-41e0-955d-db94a1674003EnglishSymplectic Elements at Oxford1994Meeran, KHusain, MPuccini, MScott, HDionisi-Vici, CHarvey, DRLynn, JThakker, RNeonatal primary hyperparathyroidism is a life threatening disorder that is associated with severe hypercalcaemia, hypotonia, bone demineralization, fractures and respiratory distress. Treatment consists of total parathyroidectomy and without this affected infants will usually die by the age of three months. We report a patient with neonatal primary hyperparathyroidism who survived without fractures or parathyroidectomy to an age of nine months, and in whom the hypercalcaemia became masked by vitamin D deficiency. At surgery, four-gland hyperplasia was demonstrated and total parathyroidectomy followed by oral calcitriol treatment has restored well-being and normocalcaemia. An absence of skeletal complications, a survival beyond three months of age without parathyroidectomy and the masking of the hypercalcaemia by vitamin D deficiency represents a unique combination of metabolic abnormalities in a patient with neonatal primary hyperparathyroidism. |
| spellingShingle | Meeran, K Husain, M Puccini, M Scott, H Dionisi-Vici, C Harvey, DR Lynn, J Thakker, R Neonatal primary hyperparathyroidism masked by vitamin D deficiency. |
| title | Neonatal primary hyperparathyroidism masked by vitamin D deficiency. |
| title_full | Neonatal primary hyperparathyroidism masked by vitamin D deficiency. |
| title_fullStr | Neonatal primary hyperparathyroidism masked by vitamin D deficiency. |
| title_full_unstemmed | Neonatal primary hyperparathyroidism masked by vitamin D deficiency. |
| title_short | Neonatal primary hyperparathyroidism masked by vitamin D deficiency. |
| title_sort | neonatal primary hyperparathyroidism masked by vitamin d deficiency |
| work_keys_str_mv | AT meerank neonatalprimaryhyperparathyroidismmaskedbyvitaminddeficiency AT husainm neonatalprimaryhyperparathyroidismmaskedbyvitaminddeficiency AT puccinim neonatalprimaryhyperparathyroidismmaskedbyvitaminddeficiency AT scotth neonatalprimaryhyperparathyroidismmaskedbyvitaminddeficiency AT dionisivicic neonatalprimaryhyperparathyroidismmaskedbyvitaminddeficiency AT harveydr neonatalprimaryhyperparathyroidismmaskedbyvitaminddeficiency AT lynnj neonatalprimaryhyperparathyroidismmaskedbyvitaminddeficiency AT thakkerr neonatalprimaryhyperparathyroidismmaskedbyvitaminddeficiency |