Familial Hypocalciuric Hypercalcemia: Clinical Aspects and Evolution

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

70 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-02-01

Study Completion Date

2023-04-01

Brief Summary

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Familial hypocalciuric hypercalcemia (FHH) is a rare disease (ORPHA#405, www.orpha.net) and most likely underdiagnosed, that clinicians should be aware of in the differential diagnosis of a hypercalcemia. Appropriate identification of the FHH has implications in treatment and also for the family, since it is an automosal-dominant disease, due to mostly a heterozygous loss-of-function mutation of the CASR (calcium-sensing receptor) gene, but also much less freqüent mutations of another two genes (AP2S1 and GNA11). In case of clinical and biochemical suspicion of FHH, a genetic evaluation is mandatory. Nevertheless, an important number of patients, the genetic study is negative. This observational study is intended to perform a descriptive review of cases with clinical and biochemical suspicion of FHH who underwent a genetic study in the usual clinical practice. Clinical, biochemical and radiological characteristics, treatment, follow-up and comorbidities of genotype-negative participants will be compared with genotype-positive cases.

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Detailed Description

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Conditions

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Familial Hypocalciuric Hypercalcemia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Interventions

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Observational study. No intervention is performed

Descriptive study in participants with clinical and biochemical suspicion of FHH. Comparison between genotype-negative and genotype-positive participants with clinical and biochemical suspicion of FHH.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Patients with clinical and biochemical suspicion of FHH who, at the discretion of the physician in routine clinical practice, were asked to perform a genetic evaluation of FHH and whose genetic results are available.