Khan Muhammad I, Jain Tanvi, Abid Muhammad M, Israr Samra, Khan Muhammad H
Greater Baltimore Medical Centre, Towson, MD, USA.
Khyber Medical College, Peshawar, Pakistan.
J Community Hosp Intern Med Perspect. 2025 Jul 3;15(4):66-68. doi: 10.55729/2000-9666.1497. eCollection 2025.
Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant condition caused by mutations in the calcium-sensing receptor gene (CASR), leading to asymptomatic hypercalcemia. Here, we report a case of hypercalcemia in a patient with acute pancreatitis, subsequently diagnosed with FHH. A 41-year-old male presented with abdominal pain and elevated pancreatic enzymes. Imaging revealed changes consistent with acute pancreatitis. Surprisingly, serum calcium was elevated, which is uncommon in acute pancreatitis. Further work-up demonstrated normal parathyroid hormone (PTH), PTH-related peptide (PTHrp), and vitamin D levels. A 24-h urinary calcium excretion of 24 mg/24 h and a calcium to creatinine clearance ratio (CCCR) of 0.002 confirmed the diagnosis of FHH. This condition is typically asymptomatic, with few complications, and is managed conservatively with patient education and genetic counselling.
家族性低钙血症性高钙血症（FHH）是一种罕见的常染色体显性遗传病，由钙敏感受体基因（CASR）突变引起，导致无症状性高钙血症。在此，我们报告一例急性胰腺炎患者出现高钙血症，随后被诊断为FHH。一名41岁男性因腹痛和胰腺酶升高就诊。影像学检查显示与急性胰腺炎相符的改变。令人惊讶的是，血清钙升高，这在急性胰腺炎中并不常见。进一步检查显示甲状旁腺激素（PTH）、PTH相关肽（PTHrp）和维生素D水平正常。24小时尿钙排泄量为24mg/24小时，钙与肌酐清除率（CCCR）为0.002，确诊为FHH。这种疾病通常无症状，并发症少，通过患者教育和遗传咨询进行保守治疗。
