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Case Reports of Patients Diagnosed with Familial Hypocalciuric Hypercalcemia, A Disorder That Should be Kept in Mind in Hypercalcemia Cases [TP]
TP. 2022; 3(3): 90-94 | DOI: 10.4274/TP.2022.83007

Case Reports of Patients Diagnosed with Familial Hypocalciuric Hypercalcemia, A Disorder That Should be Kept in Mind in Hypercalcemia Cases

Ayşe Derya Buluş1, Yüksel Yaşartekin1, Ahmet Cevdet Ceylan2
1Ankara Atatürk Sanatorium Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Türkiye
2Ankara City Hospital, Clinic of Medical Genetics, Ankara, Türkiye

Familial hypocalciuric hypercalcemia (FHH) causes hypercalcemia by three genetic mechanisms: Inactivating mutations in the calcium-sensing receptor (CaSR), G-protein subunit α11 or adapter-associated protein complex 2, sigma 1 subunit. In other cases, hypercalcemia causes significant morbidity and mortality, while FHH usually follows a benign course. Failure to diagnose FHH may result in unwarranted treatment or surgery for a false diagnosis of primary hyperparathyroidism, given the significant overlap of biochemical features. Patients carrying a heterozygous loss-of-function mutation in the CaSR gene are typically referred to as FHH-type 1 (FHH1). Although FHH1 causes lifelong hypercalcemia, it is usually benign and asymptomatic. FHH is the most common syndrome of CaSR gene mutation; it may sometimes be associated with a hypercalciuric tendency depending on the variant. Although hypercalcemia is a frequently encountered condition in our clinical practice, FHH is a clinic that we do not often think of. This paper presents a family diagnosed with FHH, having heterozygous CaSR mutations in three generations.

Keywords: Familial, hypercalcemia, hypocalciuric

Ayşe Derya Buluş, Yüksel Yaşartekin, Ahmet Cevdet Ceylan. Case Reports of Patients Diagnosed with Familial Hypocalciuric Hypercalcemia, A Disorder That Should be Kept in Mind in Hypercalcemia Cases. TP. 2022; 3(3): 90-94

Corresponding Author: Ayşe Derya Buluş, Türkiye
Manuscript Language: English
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