Cargando…

Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review

BACKGROUND: Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcemia (FHH) are the most important differential diagnosis of parathyroid hormone (PTH)-dependent hypercalcemia. The clinical features of FHH and PHPT can overlap in some cases. Therefore, these two diseases must be dif...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zahedi, Maryam, Hizomi Arani, Reyhane, Rafati, Maryam, Amouzegar, Atieh, Hadaegh, Farzad
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8567632/ https://www.ncbi.nlm.nih.gov/pubmed/34736428 http://dx.doi.org/10.1186/s12902-021-00881-9

Ejemplares similares

MON-258 Toddler with Hypercalcemia: Diagnosis of Familial Hypocalciuric Hypercalcemia
por: Kochanski, Justin, et al.
Publicado: (2019)

Severe Symptomatic Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia
por: Kurian, Roshini, et al.
Publicado: (2021)

Utility of Cinacalcet in Familial Hypocalciuric Hypercalcemia
por: Sethi, Bipin Kumar, et al.
Publicado: (2017)

Familial Hypocalciuric Hypercalcemia in Pregnancy: Diagnostic Pitfalls
por: Jones, Alicia R, et al.
Publicado: (2020)

Nasopharyngeal B-cell lymphoma with pan-hypopituitarism and oculomotor nerve palsy: a case report and review of the literature
por: Zahedi, Maryam, et al.
Publicado: (2020)

Atypical Presentation of Familial Hypocalciuric Hypercalcemia: Case Report
por: Ali, Dalal S, et al.
Publicado: (2021)

Calcimimetic Use in Familial Hypocalciuric Hypercalcemia—A Perspective in Endocrinology
por: Marx, Stephen J.
Publicado: (2017)

A Case of Lithium-Associated Hypocalciuric Hypercalcemia
por: Nwabufor, Philip C, et al.
Publicado: (2020)

Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient
por: Wu, Bo, et al.
Publicado: (2017)

Amelioration of hypercalcemia by cinacalcet treatment in a subject with relapsing acquired hypocalciuric hypercalcemia: A case report
por: Sanada, Junpei, et al.
Publicado: (2021)

Concomitant familial hypocalciuric hypercalcemia and single parathyroid adenoma: a case report
por: Marstrand, Simone Diedrichsen, et al.
Publicado: (2021)

Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia
por: Höppner, Jakob, et al.
Publicado: (2021)

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
por: Nesbit, M. Andrew, et al.
Publicado: (2012)

SUN-LB088 Octreotide Induced Hypocalcemia in Case of Familial Hypocalciuric Hypercalcemia
por: Alkhazaali, Ali, et al.
Publicado: (2019)

Functional Assessment of Calcium-Sensing Receptor Variants Confirms Familial Hypocalciuric Hypercalcemia
por: Mullin, Benjamin H, et al.
Publicado: (2022)

Clinical and biochemical outcomes of cinacalcet treatment of familial hypocalciuric hypercalcemia: a case series
por: Rasmussen, Anne Qvist, et al.
Publicado: (2011)

Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor
por: Taki, Katsumi, et al.
Publicado: (2015)

Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia
por: García-Castaño, Alejandro, et al.
Publicado: (2018)

MON-540 Familial Hypocalciuric Hypercalcemia Diagnosed in a 63-Year-Old Female
por: Mudgal, Mayuri, et al.
Publicado: (2019)

SAT-361 Familial Hypocalciuric Hypercalcemia Type 3: AP2S1 Mutation
por: Kerut, Sarah Elizabeth, et al.
Publicado: (2020)

Clinical, Biochemical, and Genetic Profile of an Indian Kindred with Type 1 Familial Hypocalciuric Hypercalcemia
por: Alam, Sarah, et al.
Publicado: (2021)

A Novel Missense CASR Gene Sequence Variation Resulting in Familial Hypocalciuric Hypercalcemia
por: Bletsis, Panagiotis, et al.
Publicado: (2022)

ODP128 Unusually High Serum Calcium in a Patient with Familial Hypocalciuric Hypercalcemia
por: Spiro, Andrew J, et al.
Publicado: (2022)

Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia
por: Jensterle, Mojca, et al.
Publicado: (2023)

The Biochemical Profile of Familial Hypocalciuric Hypercalcemia and Primary Hyperparathyroidism during Pregnancy and Lactation: Two Case Reports and Review of the Literature
por: Ghaznavi, S. A., et al.
Publicado: (2016)

Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His
por: Aashiq, Mohamed, et al.
Publicado: (2020)

Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia
por: Papadopoulou, Anna, et al.
Publicado: (2016)

Primary hyperparathyroidism versus familial hypocalciuric hypercalcemia: a challenging diagnostic evaluation in an adolescent female
por: Tosur, Mustafa, et al.
Publicado: (2019)

Familial hypocalciuric hypercalcemia caused by homozygous CaSR gene mutation: A case report of a family
por: Wang, Feifei, et al.
Publicado: (2020)

A Case Report of Familial Benign Hypocalciuric Hypercalcemia: A Mutation in the Calcium-Sensing Receptor Gene
por: Woo, Seong Ill, et al.
Publicado: (2006)

A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia
por: Tonyushkina, Ksenia N, et al.
Publicado: (2012)

A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH
por: Majumdar, Sachin K., et al.
Publicado: (2020)

Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)
por: Dharmaraj, Poonam, et al.
Publicado: (2020)

High Incidence of Chronic Kidney Disease among Iranian Diabetic Adults: Using CKD-EPI and MDRD Equations for Estimated Glomerular Filtration Rate
por: Moazzeni, Seyyed Saeed, et al.
Publicado: (2021)

Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss‐of‐Function Gα(11) Mutation
por: Gorvin, Caroline M, et al.
Publicado: (2017)

Disorders of the Calcium Sensing Signaling Pathway: From Familial Hypocalciuric Hypercalcemia (FHH) to Life Threatening Conditions in Infancy
por: Höppner, Jakob, et al.
Publicado: (2022)

A case of familial hypocalciuric hypercalcemia type 1 due to CASR p.Pro55Leu mutation
por: Sumida, Akira, et al.
Publicado: (2022)

Misleading localization by (18)F-fluorocholine PET/CT in familial hypocalciuric hypercalcemia type-3: a case report
por: Mukhtar, Noha N, et al.
Publicado: (2021)

Primary Hyperparathyroidism in Homozygous Sickle Cell Patients: A Hemolysis-Mediated Hypocalciuric Hypercalcemia Phenotype?
por: Khan, Edmat Akhtar, et al.
Publicado: (2021)

Multiple endocrine neoplasia phenocopy revealed as a co‐occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3
por: Hovden, Silje, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_hpl1m4t77sqaovahkqm7t8ajck