Singular case report of familial hypocalciuric hypercalcemia: a rare diagnosis of hypercalcemia in the older people.

IF 2.7 4区 医学 Q3 ENDOCRINOLOGY & METABOLISM Aging Male Pub Date : 2025-12-01 Epub Date: 2024-12-09 DOI:10.1080/13685538.2024.2436877
Etienne Ojardias, Mélanie Leman, Ludovic Lafaie, Philippe Oriol, Paul Calmels, Thomas Celarier
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Abstract

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. Biological tests excluded primary or hyperparathyroidism and malignancy-related hyperparathyroidism, confirming the diagnosis of FHH through the detection of an inhibitory mutation in the calcium-sensing receptor gene.

Conclusion: This case suggests to clinicians the possibility of FHH in older patients with unexplained hypercalcemia. In geriatric patients, the diagnosis is complicated because of the poly-pathology: here hypercalcemia was associated with a confusing gout crisis, which was triggered by diuretic treatment for heart failure.

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目的:报告一例老年患者家族性低钙尿症高钙血症(FHH)的病例,并强调老年患者的诊断难题:我们报告了一名 88 岁的多病因患者的家族性高钙血症诊断结果,该患者在一次心脏失代偿检查中被发现患有高钙血症。尽管痛风症状的临床表现令人困惑,包括反复发作的膝关节炎,但持续的高钙血症使患者不得不接受进一步检查。生物检测排除了原发性或甲状旁腺功能亢进症以及恶性肿瘤相关的甲状旁腺功能亢进症,通过检测钙传感受体基因的抑制性突变,确诊为FHH:结论:本病例提示临床医生,不明原因的高钙血症老年患者可能患有FHH。在老年患者中,由于多病理因素,诊断变得复杂:本例患者的高钙血症与痛风危象有关,而痛风危象又是由治疗心力衰竭的利尿剂引发的。
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来源期刊
Aging Male
Aging Male 医学-泌尿学与肾脏学
CiteScore
6.40
自引率
3.80%
发文量
33
审稿时长
>12 weeks
期刊介绍: The Aging Male , the official journal of the International Society for the Study of the Aging Male, is a multidisciplinary publication covering all aspects of male health throughout the aging process. The Journal is a well-recognized and respected resource for anyone interested in keeping up to date with developments in this field. It is published quarterly in one volume per year. The Journal publishes original peer-reviewed research papers as well as review papers and other appropriate educational material that provide researchers with an integrated perspective on this new, emerging specialty. Areas of interest include, but are not limited to: Diagnosis and treatment of late-onset hypogonadism Metabolic syndrome and related conditions Treatment of erectile dysfunction and related disorders Prostate cancer and benign prostate hyperplasia.
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