Background: Calcium pyrophosphate dihydrate crystal deposition disease (CPPD-CDD) has been associated to hypercalcemia. Familial hypocalciuric hypercalcemia (FHH) is a rare but important consideration in the differential diagnosis of hypercalcemia. This autosomal dominantly inherited condition is characterized by elevated plasma calcium levels, relative or absolute hypocalciuria, and normal to moderately elevated plasma PTH level. The disease is caused by inactivating mutations in the calcium-sensing receptor gene.
Case Report: We describe a 77-year-old Italian man with arthritis secondary to CPPD-CDD and hypercalcemia. Clinical and biochemical data (s-Ca: 2.94 mmol/L; PTH: 5.9 pmol/L; 24 h urinary calcium: 69.6 mg; calcium/creatinine clearance: 0.004) suggested the diagnosis of FHH. Mild hypocalciuric hypercalcemia was also found in five of seven relatives confirming the diagnosis, of these one showed chondrocalcinosis.
Conclusions: It is important to screen for FHH using fractional urinary excretion of calcium in subjects with CPPD-CDD associated to hypercalcemia, this approach may prevent unnecessary parathyroidectomy.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jbspin.2009.02.001 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Demineralization of Osseous Structures as Presentation of a Rare Genetic Disorder That Is Associated With a High Rate of Mortality.
Case Rep Endocrinol
December 2024
Henry Ford St. John Hospital, Detroit, Michigan, USA.
Article Synopsis
- A female neonate born to consanguineous parents exhibited severe hyperparathyroidism (NSHPT) after a C-section, showing signs of respiratory distress and skeletal abnormalities following birth.
- Diagnostic challenges included elevated calcium levels and a homozygous variant in the calcium-sensing receptor (CaSR) gene, leading to the establishment of NSHPT.
- Management of NSHPT is critical due to its high mortality risk; treatment options typically involve addressing the high calcium levels and associated metabolic issues.
Literature evidence describing a seeming de novo occurrence of severe osteoporosis accompanied by the presence of parathyroid adenoma with normal serum parathormone level (PTH), normal serum vitamin D, and serum calcium levels is rare; hence, this case report. In the absence of raised parathormone levels and the demonstration of the presence of parathyroid adenoma, the hypothesis that the authors were left with was that could certain forms of parathyroid adenoma express factors or active substances with severe osteoclastic activity. Or, could certain expressed PTH molecules in parathyroid adenoma scenarios prove difficult to assay using conventional study methods? We have reviewed the literature in a bid to provide answers to these possible uncommon scenarios.
View Article and Find Full Text PDFSingular case report of familial hypocalciuric hypercalcemia: a rare diagnosis of hypercalcemia in the older people.
Aging Male
December 2025
Clinical Gerontology Department, University Hospital of Saint-Etienne, Saint-Etienne, France.
Objective: to report a case of familial hypocalciuric hypercalcemia (FHH) in an older patient and highlight the diagnostic challenges in geriatric populations.
Case Presentation: We report the diagnosis of FHH in an 88-year-old polypathological patient with hypercalcemia discovered during a check-up for cardiac decompensation. Despite a confusing clinical presentation with gout symptoms, including repeated episodes of knee arthritis, persistent hypercalcemia conducted further investigations.
CASRdb: A Publicly Accessible Comprehensive Database for Disease-associated Calcium-sensing Receptor Variants.
J Clin Endocrinol Metab
November 2024
Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Context: Genetic testing of the calcium-sensing receptor (CASR) gene is crucial for confirming diagnoses of familial hypocalciuric hypercalcemia type I (FHH1) and autosomal dominant hypocalcemia type I (ADH1). Therefore, we created a publicly accessible comprehensive database of the disease-causing variants of the CASR gene.
Evidence Acquisition: We used two sources for variant reports: (1) we conducted a systematic review in the Embase and Pubmed databases from inception to March 2023, using search strategies associated with CASR.
[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.
Want 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!