Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.medcli.2020.01.005 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
[First Report of a Family with Familial Hypocalciuric Hypercalcemia in Chile: Differential Diagnosis in a Patient with PTH-Dependent Hypercalcemia Post-Parathyroidectomy].
Rev Med Chil
March 2024
Departamento de Endocrinología, Pontificia Universidad Católica de Chile, Chile.
Article Synopsis
- A 45-year-old woman experienced persistent high calcium levels after undergoing parathyroid surgery.
- She was later diagnosed with familial hypocalciuric hypercalcemia due to low calcium in her urine and a family history of similar symptoms.
- Genetic testing revealed a variant in the CASR gene, marking the first report of this condition in a Chilean family.
New mutation in the calcium-sensing receptor gene as a form of presentation of familial hypocalciuric hypercalcemia type 1.
Med Clin (Barc)
December 2023
Servicio de Endocrinología, Hospital Universitario Donostia, Gipuzkoa, España.
A novel case of neonatal severe hyperparathyroidism successfully treated with a type II calcimimetic drug.
Bone Rep
June 2021
H.C. Andersen Children's Hospital, Odense University Hospital, Sdr. Boulevard 29, 5000 Odense, Denmark.
We report a boy with hypercalcemia due to neonatal severe hyperparathyroidism (NSHPT) caused by a compound heterozygous mutation in the calcium sensing receptor (CaSR) managed successfully on a type II calcimimetic drug. The hypercalcemia was temporarily treated by hyperhydration, bisphosphonate and calcium depleted milk. At 29 days of age cinacalcet was introduced.
View Article and Find Full Text PDFFamiliar hypocalciuric hypercalcemia: Biochemical and genetic characterization of a family.
Med Clin (Barc)
May 2021
Biocruces Bizkaia Research Institute, Barakaldo, Bizkaia, España; Enfermedades raras Centro de Investigación Biomédica en Red (CIBERER), España; Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), España.
[Familial hypocalciuric hypercalcemia: A case report].
Arch Argent Pediatr
December 2018
Nefrología, Hospital Universitario Virgen Macarena, Sevilla, España.
The finding of persistent hypercalcemia suggests doing other medical tests to find the cause. Familial hypocalciuric hypercalcemia is usually benign and it requires no treatment. It is important to do CASR gene sequencing to avoid unnecessary treatments.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!