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[Familial hypocalciuric hypercalcemia]
Miklós Tóth1, Gábor Speer, Attila Patócs
1Semmelweis Egyetem, Altalános Orvostudományi Kar, II. Belgyógyászati Klinika, Budapest.
Orvosi Hetilap
|November 25, 2003
Summary
Familial hypocalciuric hypercalcemia (FHH) is a rare genetic disorder. This study identifies a novel calcium-sensing receptor gene mutation in a Hungarian patient, confirming FHH.
Area of Science:
- Endocrinology
- Medical Genetics
Background:
- Familial hypocalciuric hypercalcemia (FHH) is a genetic disorder characterized by lifelong hypercalcemia and hypocalciuria.
- FHH is often suspected but rarely confirmed during hypercalcemia evaluations.
Observation:
- A 25-year-old Hungarian woman presented with mild hypercalcemia detected during routine testing.
- Evaluation showed hypercalcemia, relative hypocalciuria, and non-suppressed parathyroid hormone levels.
- Diagnosis was confirmed by a low calcium/creatinine clearance ratio.
Findings:
- Genetic analysis revealed a specific mutation (CCG to CTG at codon 55, exon 2) in the calcium-sensing receptor gene.
- The proband and her father shared this identical mutation.
- This mutation results in a proline-to-leucine substitution.
Implications:
- This case represents the first documented instance of familial hypocalciuric hypercalcemia in a Hungarian patient.
- The findings contribute to the understanding of calcium-sensing receptor gene mutations and their role in FHH.
- Highlights the importance of genetic testing in diagnosing FHH.