PMID- 35141253
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220501
IS  - 2296-858X (Print)
IS  - 2296-858X (Electronic)
IS  - 2296-858X (Linking)
VI  - 8
DP  - 2021
TI  - Case Report: Unusual Presentations of Loss-of-Function Mutations of the 
      Calcium-Sensing Receptor.
PG  - 809067
LID - 10.3389/fmed.2021.809067 [doi]
LID - 809067
AB  - BACKGROUND: In recent years, heterozygous loss-of-function mutations of the 
      Calcium Sensing Receptor gene (CaSR) were implicated in different hypercalcemic 
      syndromes besides familial hypocalciuric hypercalcemia (FHH), including neonatal 
      severe primary hyperparathyroidism (NSHPT) and primary hyperparathyroidism 
      (PHPT). CASES PRESENTATION: Here we describe two unusual presentations of 
      heterozygous inactivating CaSR mutations. Case 1: a case of NSHPT due to a de 
      novo, p.(ArgR185Gln) CaSR mutation and successfully treated with cinacalcet 
      monotherapy for 8 years until definitive surgical resolution. Case 2: a 37 
      years-old woman with PHPT complicated with hypercalcemia and nephrocalcinosis 
      with a novel heterozygous p.(Pro393Arg) CaSR mutation and cured with 
      parathyroidectomy. CONCLUSIONS: These cases reinforce the fact that the clinical 
      spectrum of inactivating mutations of the CaSR has widened and, although carrying 
      a mutation suggestive of FHH, some patients may have different clinical 
      phenotypes and complications requiring individualized therapies.
CI  - Copyright (c) 2022 Palmieri, Grassi, Guarnieri, Chiodini, Arosio and 
      Eller-Vainicher.
FAU - Palmieri, Serena
AU  - Palmieri S
AD  - Unit of Endocrinology, Fondazione Istituto di Ricovero e Cura a Carattere 
      Scientifico Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.
FAU - Grassi, Giorgia
AU  - Grassi G
AD  - Unit of Endocrinology, Fondazione Istituto di Ricovero e Cura a Carattere 
      Scientifico Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.
FAU - Guarnieri, Vito
AU  - Guarnieri V
AD  - Division of Medical Genetics, Fondazione IRCCS Ospedale Casa Sollievo della 
      Sofferenza, San Giovanni Rotondo (FG), Milan, Italy.
FAU - Chiodini, Iacopo
AU  - Chiodini I
AD  - Department of Endocrine and Metabolic Diseases, IRCCS, Istituto Auxologico 
      Italiano, Milan, Italy.
AD  - Departments of Medical Biotechnology and Translational Medicine, University of 
      Milan, Milan, Italy.
FAU - Arosio, Maura
AU  - Arosio M
AD  - Unit of Endocrinology, Fondazione Istituto di Ricovero e Cura a Carattere 
      Scientifico Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.
AD  - Department of Clinical Sciences and Community Health, University of Milan, Milan, 
      Italy.
FAU - Eller-Vainicher, Cristina
AU  - Eller-Vainicher C
AD  - Unit of Endocrinology, Fondazione Istituto di Ricovero e Cura a Carattere 
      Scientifico Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.
LA  - eng
PT  - Case Reports
DEP - 20220124
PL  - Switzerland
TA  - Front Med (Lausanne)
JT  - Frontiers in medicine
JID - 101648047
PMC - PMC8818680
OTO - NOTNLM
OT  - CaSR
OT  - FHH
OT  - NSHPT
OT  - cinacalcet
OT  - hyperparathyroidism
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2022/02/11 06:00
MHDA- 2022/02/11 06:01
PMCR- 2022/01/24
CRDT- 2022/02/10 05:38
PHST- 2021/11/04 00:00 [received]
PHST- 2021/12/21 00:00 [accepted]
PHST- 2022/02/10 05:38 [entrez]
PHST- 2022/02/11 06:00 [pubmed]
PHST- 2022/02/11 06:01 [medline]
PHST- 2022/01/24 00:00 [pmc-release]
AID - 10.3389/fmed.2021.809067 [doi]
PST - epublish
SO  - Front Med (Lausanne). 2022 Jan 24;8:809067. doi: 10.3389/fmed.2021.809067. 
      eCollection 2021.