Novel mutations of the calcium-sensing receptor impede differential diagnosis of primary hyperparathyroidism and familial hypocalciuric hypercalcemia.
Primary hyperparathyroidism (PHPT)
calcium-sensing receptor (CaSR)
familial hypocalciuric hypercalcemia (FHH)
parathyroid surgery
Journal
Gland surgery
ISSN: 2227-684X
Titre abrégé: Gland Surg
Pays: China (Republic : 1949- )
ID NLM: 101606638
Informations de publication
Date de publication:
Jan 2022
Jan 2022
Historique:
received:
24
08
2021
accepted:
16
11
2021
entrez:
4
3
2022
pubmed:
5
3
2022
medline:
5
3
2022
Statut:
ppublish
Résumé
Familial hypocalciuric hypercalcemia 1 (FHH1) is an autosomal dominant disorder caused by inactivating mutations in the calcium-sensing receptor ( CaSR-genotyping was conducted, various biochemical parameters including twenty-four-hour urinary Ca excretion (24hU CE) and the calculated relation of urinary Ca clearance to creatinine clearance (CCCR), type of surgery and 1-year follow-up data of fourteen patients with proven FHH1 were evaluated retrospectively. Genetic analysis revealed a total of nine novel heterozygous variants in the We discovered novel heterozygous variants in the
Sections du résumé
BACKGROUND
BACKGROUND
Familial hypocalciuric hypercalcemia 1 (FHH1) is an autosomal dominant disorder caused by inactivating mutations in the calcium-sensing receptor (
METHODS
METHODS
CaSR-genotyping was conducted, various biochemical parameters including twenty-four-hour urinary Ca excretion (24hU CE) and the calculated relation of urinary Ca clearance to creatinine clearance (CCCR), type of surgery and 1-year follow-up data of fourteen patients with proven FHH1 were evaluated retrospectively.
RESULTS
RESULTS
Genetic analysis revealed a total of nine novel heterozygous variants in the
CONCLUSIONS
CONCLUSIONS
We discovered novel heterozygous variants in the
Identifiants
pubmed: 35242665
doi: 10.21037/gs-21-577
pii: gs-11-01-12
pmc: PMC8825529
doi:
Types de publication
Journal Article
Langues
eng
Pagination
12-22Informations de copyright
2022 Gland Surgery. All rights reserved.
Déclaration de conflit d'intérêts
Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://gs.amegroups.com/article/view/10.21037/gs-21-577/coif). The authors have no conflicts of interest to declare.
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