Publication
Clinical, Molecular Characterization and Long-Term Follow-Up of a Patient with Neonatal Severe Hyperparathyroidism
| dc.contributor.author | Padeira, G | |
| dc.contributor.author | Cavaco, BM | |
| dc.contributor.author | Virella, D | |
| dc.contributor.author | Sá-Couto, H | |
| dc.contributor.author | Lopes, ML | |
| dc.date.accessioned | 2022-11-15T15:49:19Z | |
| dc.date.available | 2022-11-15T15:49:19Z | |
| dc.date.issued | 2022 | |
| dc.description.abstract | Heterozygous inactivating pathogenic variants of the calcium-sensing receptor encoding gene cause autosomal dominant familial hypocalciuric hypercalcemia, whereas mutations that inactivate both alleles cause neonatal severe hyperparathyroidism, a rare and potentially fatal disease. We present the clinical and genetic characterization of a Portuguese family with familial hypocalciuric hypercalcemia/neonatal severe hyperparathyroidism as well as the long-term follow-up of the proband. The newborn was admitted due to progressive hypotonia, feeding refusal, and dehydration. Serum calcium and parathormone levels were markedly increased. Radiological evaluation revealed osteopenia and several fractures. Total parathyroidectomy with the reimplantation of a quarter of one gland was performed. At 15 years old, she is clinically well, has normal calcium levels, and detectable parathormone values while under calcium and α-calcidiol treatment. Calcium-sensing receptor encoding gene sequencing revealed a germline homozygous nonsense pathogenic variant later confirmed as inherited. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Port J Pediatr 2022;53:440-6 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.17/4281 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Sociedade Portuguesa de Pediatria | pt_PT |
| dc.subject | Genetic Diseases, Inborn | pt_PT |
| dc.subject | Hypercalcemia/diagnosis | pt_PT |
| dc.subject | Hypercalcemia/genetics | pt_PT |
| dc.subject | Hyperparathyroidism/diagnosis | pt_PT |
| dc.subject | Hyperparathyroidism/ genetics | pt_PT |
| dc.subject | Parathyroid Hormone | pt_PT |
| dc.subject | Receptors, Calcium- Sensing/genetics | pt_PT |
| dc.subject | Treatment Outcome | pt_PT |
| dc.subject | HDE UCI NEO | pt_PT |
| dc.subject | HDE END PED | pt_PT |
| dc.subject | HDE CIR PED | pt_PT |
| dc.title | Clinical, Molecular Characterization and Long-Term Follow-Up of a Patient with Neonatal Severe Hyperparathyroidism | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 446 | pt_PT |
| oaire.citation.startPage | 440 | pt_PT |
| oaire.citation.volume | 53 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |