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24-Hydroxylase Deficiency Due to CYP24A1 Sequence Variants: Comparison With Other Vitamin D-mediated Hypercalcemia Disorders.

CONTEXT: CYP24A1 encodes 24-hydroxylase, which converts 25(OH)D3 and 1,25(OH)2D3 to inactive metabolites. Loss-of-function variants in CYP24A1 are associated with 24-hydroxylase deficiency (24HD), characterized by hypercalcemia, nephrolithiasis, and nephrocalcinosis. We retrospectively reviewed laboratory, imaging, and clinical characteristics of patients with suspected or confirmed 24HD and patients with other vitamin D-mediated hypercalcemia disorders: sarcoidosis, lymphoma, and exogenous vitamin D toxicity (EVT). OBJECTIVE: To identify features that differentiate 24HD from other vitamin D-…

Misleading localization by 18F-fluorocholine PET/CT in familial hypocalciuric hypercalcemia type-3: a case report.

BACKGROUND: Familial hypocalciuric hypercalcemia (FHH) is a heterogeneous autosomal-dominant disorder of calcium hemostasis that may be difficult to distinguish clinically from mild primary hyperparathyroidism. Loss-of-function mutations mainly involving Arg15 residue of the adaptor-related protein complex 2, sigma subunit 1 (AP2S1) cause a rarer, more recently recognized form of FHH, FFH type-3. Recently, 18F-fluorocholine positron emission tomography/computed tomography (FCH-PET/CT) showed superior sensitivity to conventional imaging in localizing parathyroid adenomas. We report a new FFH ty…

Acute hypercalcemia and excessive bone resorption following anti-RANKL withdrawal: Case report and brief literature review.

Denosumab is an anti-RANKL antibody that is commonly used for the treatment of osteoporosis; in oncology, bisphosphonates and denosumab have become the standard therapies for the treatment and prevention of skeletal complications in patients with myeloma and solid tumors. In recent years, excessive bone remodeling following the discontinuation of denosumab has raised concerns. Several cases of hypercalcemia have been reported after the discontinuation of high-dose denosumab (120 mg every 4 weeks), mainly in children. In this study, we report a new case of severe refractory hypercalcemia in a 5…

Humoral hypercalcemia due to gastric carcinoma secreting parathyroid hormone-related protein during chemotherapy: a case report.

Humoral hypercalcemia due to a gastric carcinoma-secreting parathyroid hormone-related protein (PTHrP) is a rare disease associated with poor prognosis. A 61-year-old male with gastric cancer who had been receiving chemotherapy showed serum hypercalcemia and an elevated level of serum PTHrP with a suppressed intact parathyroid hormone level. Computed tomography revealed stable disease 4 weeks prior, and the laboratory examination revealed no adverse effects 2 weeks prior. The biopsy at the time of diagnosis was immunohistochemically positive for PTHrP later. Despite intensive care, the patient…

Paraneoplastic humorally mediated hypercalcemia induced by parathyroid hormone-related protein in gynecologic malignancies: a systematic review.

Humoral hypercalcemia of malignancy (HHM) is a metabolic phenomenon that is mediated by the paraneoplastic secretion of parathyroid hormone-related peptide (PTHrP). Gynecologic malignant neoplasms complicated by HHM have been reported for organs such as the uterus, cervix, ovary, vulva and the vagina. The purpose of our study was to perform a review of the published cases in the literature and, further, to identify parameters with effect on outcome. Among 34 women with gynecologic neoplasms, 22 suffered from ovarian and 6 from uterine malignancies, while 3 had vulvar and another 3 cervical can…

The calcium-sensing receptor (CaSR) defends against hypercalcemia independently of its regulation of parathyroid hormone secretion.

The calcium-sensing receptor (CaSR) controls parathyroid hormone (PTH) secretion, which, in turn, via direct and indirect actions on kidney, … otic pump, or a phosphate-deficient diet. C(-)P(-) mice show increased susceptibility to developing hypercalcemia with all three challenges compared with the other two genotypes, whereas C(+)P(-) mice defend against hypercalcemia similarly to C(+)P(+) mice. Reduced renal Ca(2+) clearance contributes to the intolerance of the C(-)P(-) mice to Ca(2+) loads, as th …

Vitamin D metabolite-mediated hypercalcemia with suppressed parathormone concentration in Pneumocystis jiroveci pneumonia after kidney transplantation.

Pneumocystis jiroveci pneumonia (PJP) is a severe complication in immunocompromised hosts including transplant recipients. Hypercalcemia (HCa) is not a classic symptom of the disease. However, HCa (mean [SD; range], 2.90 [0.20; 2.71-3.17] mmol/L) was detected in 5 patients with PJP at diagnosis. The HCa was associated with decreased concentrations of circulating parathormone (PTH), from 294 (292) ng/L 3 to 6 months previously to 20 (23.5; 7-53) ng/L. Concentrations of 1,25-(OH)2 vitamin D, measured in 3 patients, were in the high normal range (54.66 [7.23; 225-66] microg/L), whereas 25-(OH) vi…

Hypercalcemia in acute uremia and following citric acid administration: differential effect on parathyroid gland microtubule content.

Hypercalcemia, which occurs 4 hr after bilateral nephrectomy in normal rats, is not seen 4 hr after either bilateral ureterotomy or sham surgery. These results indicate that it is loss of renal mass per se, not the uremic syndrome, which is responsible for the hypercalcemia. Citric acid levels also increase 4 hr after nephrectomy, and a degree of hypercalcemia and hypercitricemia comparable to that which follows nephrectomy can be produced by administration of citric acid to normal rats. In an attempt to evaluate the role of the parathyroid gland in the development of hypercalcemia in these tw…

Clinical characteristics and prognosis of newly diagnosed multiple myeloma patients with hypercalcemia: a retrospective cohort study.

OBJECTIVE: To investigate the clinical characteristics and identify prognostic factors in patients with newly diagnosed multiple myeloma (NDMM) who presenting with hypercalcemia. METHODS: We retrospectively analyzed clinical and laboratory data from 82 NDMM patients with hypercalcemia who were admitted to the Department of Hematology at Zhongda Hospital (Southeast University) and Jiangning Hospital (Nanjing Medical University) between January 2015 and December 2024. 80 patients without hypercalcemia were randomly selected as a control group for comparison. Prognostic evaluations were based on…

Clinical and molecular characterization of familial hypocalciuric hypercalcemia in an endocrine practice: a case series of 25 patients.

Familial hypocalciuric hypercalcemia (FHH) is a disorder caused by abnormal sensing of calcium by the parathyroids and renal tubules and may mimic primary hyperparathyroidism (PHPT). Patients with FHH should not be subjected to unnecessary and potentially harmful parathyroid surgery. We sought to evaluate the clinical and biochemical presentation of FHH in our endocrine practice. This was a retrospective chart review done after Institutional Review Board approval. We describe 25 cases of likely FHH from our endocrine practice (20 FHH1, 1 FHH2, and 4 FHH3). The 24-h urinary calcium levels were …

Immunohistochemical Expression of CaSR, VDR, and AMA in Parathyroid Tumors in Relation to Hypercalcemia Severity in Primary Hyperparathyroidism.

Background: Primary hyperparathyroidism (PHPT) is usually caused by parathyroid tumors, resulting in hypercalcemia due to excessive PTH secretion. While disease severity correlates with calcium blood levels, the molecular mechanisms driving clinical variability remain unclear. The role of the calcium-sensing receptor (CaSR), the vitamin D receptor (VDR) and parathyroid cells mitochondrial activity in the pathogenesis of hyperparathyroidism is of particular interest. Methods: This retrospective study included 96 patients with PHPT who underwent parathyroidectomy. Patients were stratified into f…

Острый панкреатит в качестве первоначального представления метастатического рака груди, вызванного злокачественной гиперкальцемией: доклад по делу.

Острый панкреатит, вызванный гиперкальцемией, является редким заболеванием, которое чаще всего ассоциируется с первичным гиперпаратироидизмом или продвинутыми магнеями, и представляет собой экстренную метаболическую ситуацию. Мы сообщаем о случае 63-year-old Женщина, которая испытывала сильную эпигазную боль в животе, запор и приступы дезориентации. Лабораторные тесты выявили повышенные поджелудочные ферменты и сильную гиперкальцемию. Был диагностирован острейший панкреатит, вторичный до гиперкальцемии, и нормальные уровни паратироидного гормона (PTH) исключали первичный гиперпаратироидизм. Пр

Совпадение в аннотации оригинала
Hypercalcemia-induced acute pancreatitis is a rare condition, most commonly associated with primary hyperparathyroidism or advanced malignancies, and represents a metabolic emergency. We report the case of a 63-year-old woman who presented with severe epigastric abdominal pain, constipation, and episodes of disorientation. Laboratory tests revealed elevated …

Correlation of hypercalcemia with kidney stone formation and calcium-regulating hormone changes in patients with acute pancreatitis.

BACKGROUND: Acute pancreatitis (AP) is a severe inflammatory condition of the pancreas that leads to significant morbidity and metabolic disturbances. Hypercalcemia, or elevated serum calcium levels, is a concerning complication that may contribute to kidney stone formation and exacerbate renal issues. Calcium homeostasis is regulated by hormones, such as parathyroid hormone (PTH), calcitonin, and vitamin D, which can be altered in AP. Understanding the interplay among hypercalcemia, kidney stones, and hormonal changes is crucial for improving management strategies and clinical outcomes in pat…

Parathyroid hormone-related protein levels and treatment outcomes in hypercalcemia of malignancy: a retrospective cohort study.

The challenge of managing acute hypercalcemia in patients diagnosed with hypercalcemia of malignancy (HCM) merits further attention. Elevated levels of PTHrP may be a risk factor for treatment resistance in acute hypercalcemia; however, few studies have tested this hypothesis. This study aimed to investigate whether high PTHrP levels represent an independent risk factor that impedes the treatment of acute hypercalcemia. This retrospective cohort study recruited 159 patients aged 20-80 years with diagnosed malignancies who had been hospitalized for hypercalcemia with PTHrP levels above the refe…

Rebound Hypercalcemia in a 14-Year-Old After Denosumab Therapy for Giant Cell Granuloma of the Mandible.

BACKGROUND/OBJECTIVE: Giant cell granuloma of the bones is often treated with Denosumab. One side effect of this treatment is rebound hypercalcemia after discontinuation of denosumab. Currently, there are no particular guidelines for treating this rebound hypercalcemia. METHODS: We describe a case of a 14-year-old male who presented with symptomatic hypercalcemia following the discontinuation of denosumab. He presented to the emergency department with abdominal pain, nausea, and vomiting and was found to have elevated serum calcium at 16.1 mg/dL (2.95 mmol/L). RESULT: He was treated with zol…

Marginal Zone Lymphoma With Extensive Skeletal Involvement and Hypercalcemia: A Rare Case With a Systematic Review of the Literature.

Marginal zone lymphoma (MZL) rarely presents with skeletal involvement or hypercalcemia, making diagnosis and management particularly challenging. We report a rare case of a 44-year-old woman with extensive lytic bone lesions, hypercalcemia, and no lymphadenopathy, initially suspected to have multiple myeloma. Imaging revealed widespread osteolytic involvement, and a bone marrow biopsy confirmed MZL. She was successfully treated with rituximab-bendamustine and bisphosphonates. To contextualize this presentation, we conducted a systematic review of case reports and series describing non-Hodgkin…

Non-parathyroid hypercalcemia in a patient with new-onset hyperthyroidism and silicone-induced granulomas: case report.

BACKGROUND: Hypercalcemia is a frequent occurrence in hospitalized patients. It can vary in presentation and severity, and appropriate treatment requires targeting of the underlying condition. Rarer causes of hypercalcemia, such as hyperthyroidism and granulomatous diseases, need to be addressed after excluding the more prevalent etiologies, namely primary hyperparathyroidism and malignancies. We report a case of moderate hypercalcemia in a patient with HIV-positivity with new-onset autoimmune hyperthyroidism as well as concomitant chronic granulomas due to silicone injections. CASE SUMMARY: …