scholarly journals Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager

2009 ◽  
Vol 161 (1) ◽  
pp. 207-210 ◽  
Author(s):  
C Brachet ◽  
E Boros ◽  
S Tenoutasse ◽  
W Lissens ◽  
G Andry ◽  
...  
Keyword(s):  
Parathyroid Adenoma ◽  
Serum Calcium ◽  
Receptor Gene ◽  
Causal Link ◽  
Urinary Calcium ◽  
High Serum ◽  
Calcium Excretion ◽  
Loss Of Function ◽  
Mixed Family ◽  
History Of

ObjectiveFamilial hypocalciuric hypercalcaemia (FHH) is clinically characterized by mild to moderate parathyroid hormone (PTH)-dependent hypercalcaemia, autosomal dominant pattern of inheritance, and normal to frankly reduced urinary calcium excretion in spite of a high serum calcium (clearance (Ca)/clearance (Cr)<0.01). FHH has a benign course and should be differentiated from primary hyperparathyroidism. It is usually caused by a heterozygous loss-of-function mutation in the calcium-sensing receptor gene (CASR).DesignWe report the case of a 16-year-old patient with hypercalcaemia and a mixed family history of parathyroid adenoma and mild hypercalcaemia. Serum calcium was 14 mg/dl with a serum iPTH of 253 pg/ml.ResultsA neck 99mTc-sesta MIBI tomoscintigraphy showed a definite hyperactivity in the left upper quadrant. A surgical four-gland exploration confirmed a single parathyroid adenoma. After surgical resection of a left superior parathyroid adenoma, the patient's hypercalcemia improved but did not normalize, returning to a level typical of FHH. An inactivating mutation in exon 4 of the CASR gene, predicting a p.Glu297Lys amino acid substitution was found.ConclusionsThus, this 16-year old patient presented with the association of FHH and a single parathyroid adenoma. The young age of the patient and the association of parathyroid adenoma and FHH in his grandmother argue for a causal link between CASR mutation and parathyroid adenoma in this family. This case contributes to illustrate the expanding clinical spectrum of CASR loss-of-function mutations.

scholarly journals High Rate of Occult Urolithiasis in Normocalcemic Primary Hyperparathyroidism

2019 ◽  
Vol 44 (5) ◽  
pp. 1189-1195 ◽  
Author(s):  
Alyne Layane Pereira Lemos ◽  
Sergio Ricardo de Lima Andrade ◽  
Lívia Laeny Henrique Pontes ◽  
Patricia Moura Cravo Teixeira ◽  
Elba Bandeira ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Serum Calcium ◽  
Kidney Stones ◽  
Urinary Calcium ◽  
Normal Serum ◽  
Urinary Calcium Excretion ◽  
High Rate ◽  
Calcium Excretion ◽  
History Of ◽  
Serum Pth

Introduction: Normocalcemic primary hyperparathyroidism (NPHPT) is characterized by elevations in serum parathyroid hormone levels in the presence of normal serum calcium concentrations after exclusion of secondary hyperparathyroidism. We have previously demonstrated no differences in the prevalence of clinically active urolithiasis between NPHPT and hypercalcemic asymptomatic PHPT, and that it is significantly higher in postmenopausal osteoporotic women with NPHPT in comparison to women with normal serum PTH and calcium concentrations. Few studies have addressed the occurrence of silent or occult kidney stones in asymptomatic hypercalcemic PHPT, but no data are available for NPHPT. Objective: To determine the presence of occult urolithiasis in NPHPT patients using routine abdominal ultrasonography. Methods and Results: We studied 35 patients with NPHPT (mean age 63.2 ± 10.7 years, 96% women; serum PTH 116.5 ± 39.2 pg/mL, 25OHD 38.5 ± 6.82 ng/mL, total calcium 9.1 ± 0.56 mg/dL; albumin 4.02 ± 0.37 g/dL; BUN 34.35 ±10.23 mg/dL; p = 3.51 ± 0.60 mg/dL; estimated glomerular filtration rate 88.44 ± 32.45 mL/min/1.73 m2, and 24-h urinary calcium excretion 140.6 ± 94.3 mg/24 h). The criteria for the diagnosis of NPHPT were as follows: serum PTH above the reference range (11–65 pg/mL), normal albumin-corrected serum calcium concentrations, normal 24-h urinary calcium excretion, serum 25OHD above 30 ng/mL, estimated GFR (MDRD) above 60 mL/min/1.73 m2 (with the exclusion of medications such as thiazide diuretics, lithium, bisphosphonates, and denosumab), a history of clinical symptoms of urolithiasis, and a family history of kidney stones. Thirty-five patients were evaluated and 25 of them met the inclusion criteria. Five patients presented nephrolithiasis corresponding to 20% of the study population. There were no statistically significant differences in any of the clinical or laboratory variables studied between patients with or without urolithiasis, although mean serum PTH levels were higher in patients with stones (180.06 ± 126.48 vs. 100.72 ± 25.28 pg/mL, p = 0.1). The size of the stones ranged from 0.6 to 0.9 cm and all of the stones were located in the renal pelvis. Conclusion: We found a high prevalence of occult kidney stones in NPHPT patients, similar to what is observed in clinically manifested urolithiasis, in hypercalcemic PHPT.

scholarly journals SAT-377 Case Series of Ectopic Parathyroid Gland

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Subashini Rajoo ◽  
Yueh Chien Kuan ◽  
Chin Voon Tong
Keyword(s):  
Parathyroid Adenoma ◽  
Parathyroid Gland ◽  
Serum Calcium ◽  
Urinary Calcium ◽  
Urinary Calcium Excretion ◽  
Calcium Excretion ◽  
Excretion Ratio ◽  
Ectopic Parathyroid Adenoma ◽  
Sestamibi Scan ◽  
Ectopic Parathyroid

Abstract The prevalence of mediastinal parathyroid adenoma is unknown. Embryological origin and more extensive aberrant migration of the parathyroid glands result in ectopic glands found in the mediastinum. We report herein 4 cases of ectopic parathyroid adenoma causing primary hyperparathyroidism from three public hospitals in MalaysiaCase 1.A 70 year old lady with underlying diabetes mellitus, hypertension, chronic immune thrombocytopenic purpura and liver cirrhosis presented with incidental asymptomatic hypercalcemia during an admission for pneumonia. Her blood results revealed high corrected calcium of 2.93 mmol/L (2.02-2.60) and a low phosphate of 0.66 (0.81-1.45) mmol/L with an unsuppressed intact parathyroid hormone (iPTH) of 14.56 pmol/L (1.6-6.9). She had an equivocal urinary calcium excretion ratio of 0.01. Her bone mineral density confirmed severe osteoporosis at distal radius and neck of femur with a Tscore of -3.6 and -3.1 respectively. A hyperfunctioning ectopic parathyroid gland was seen in the Technetium Sestamibi scan which corelates with a mediastinal lymphadenopathy on CECT. The largest node measured 1.6 x 1.2 cm. Parathyroid gland was confirmed on HPE of the video-assisted-thoracoscopic surgical (VATS) excision of the mediastinal mass. Intraoperative iPTH (ioPTH) serially reduced from 8.87 to 1.94 to 1.03 pmol/L and she maintained a serum calcium levels of 2.4 mmol/L post surgery. She did not require any calcium or vitamin D supplementation. Case 2. A 36 year old male presented with generalized body weakness secondary to hypokalemia. His calcium was 3.07 mmol/l, phosphate 0.64 mmol/l and iPTH 11.53 pmol/L. Increase Technetium uptake seen at mediastinum. Post operatively, calcium normalized and remained stable 1 year later. Case 3.47 year old female presented with acute gallstone pancreatitis complicated with a pancreatic pseudocyst. She was found to have hypercalcemia of 2.77 mmol/L, phosphate 0.70 mmol/l and iPTH 21.87 pmol/L. Sestamibi scan revealed hyperfunctiong parathyroid tissue posterior to the left thyroid lobe and in the mediastinum. She is awaiting surgery. Case 4.Another asymptomatic 47 year old male who has history of post Radioactive-iodine hypothyroidism had an incidental finding of serum calcium of 2.69-2.84 mmol/L, phosphate 0.71-0.91 mmol/L and iPTH 9.89 pmol/L with urinary calcium excretion ratio of 0.019. His Sestamibi scan showed uptake at the superior mediastinum. Ectopic parathyroid gland is rarely encountered. With the advent of Technetium-Sestamibi scintigraphy, ectopic parathyroid adenoma can be localized easily. However, surgery poses a challenge due the location of the adenoma which may occasionally be near large vascular structures in the mediastinum. The availability of intraoperative PTH aids the decision for surgical exploration and completion.

scholarly journals Thoracoscopic surgical case of an ectopic mediastinal parathyroid adenoma detected by chance: a case report

BMC Surgery ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Shota Mitsuboshi ◽  
Hideyuki Maeda ◽  
Hiroe Aoshima ◽  
Tamami Isaka ◽  
Takako Matsumoto ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Parathyroid Adenoma ◽  
Serum Calcium ◽  
Tumor Resection ◽  
Anterior Mediastinum ◽  
Pathological Examination ◽  
Cervical Approach ◽  
History Of ◽  
Mediastinal Parathyroid Adenoma ◽  
Mediastinal Parathyroid

Abstract Background Ectopic mediastinal parathyroid tumor (EMPT) is a rare cause of primary hyperparathyroidism (PHPT); it is difficult to resect using the cervical approach. We describe a case of using video-assisted thoracic surgery (VATS) for EMPT resection. Case presentation A 67-year-old woman with a history of postoperative thyroid cancer had no symptoms. She was diagnosed with PHPT and underwent thyroid cancer surgery. She had serum calcium and intact parathyroid hormone (PTH) levels of 11.1 mg/dL and 206 pg/mL, respectively. Chest computed tomography showed a 10-mm nodule in the anterior mediastinum. Technetium-99 m methoxyisobutyl isonitrile scintigraphy showed an abnormal uptake lesion in the anterior mediastinum. She was diagnosed with PHPT caused by EMPT and underwent VATS. The pathological examination confirmed parathyroid adenoma. Her serum calcium and intact PTH levels were normal from 15 min after tumor resection. She has had no recurrence of EMPT. Conclusions The VATS approach was effective for the resection of EMPT.

scholarly journals Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis

2016 ◽  
Vol 57 (3) ◽  
pp. R127-R142 ◽  
Author(s):  
Fadil M Hannan ◽  
Valerie N Babinsky ◽  
Rajesh V Thakker
Keyword(s):  
G Protein ◽  
Hormone Secretion ◽  
Urinary Calcium ◽  
Calcium Excretion ◽  
Loss Of Function ◽  
Mineral Density ◽  
Gain Of Function ◽  
Type 3

The extracellular calcium (Ca2+o)-sensing receptor (CaSR) is a family C G protein-coupled receptor, which detects alterations in Ca2+o concentrations and modulates parathyroid hormone secretion and urinary calcium excretion. The central role of the CaSR in Ca2+o homeostasis has been highlighted by the identification of mutations affecting the CASR gene on chromosome 3q21.1. Loss-of-function CASR mutations cause familial hypocalciuric hypercalcaemia (FHH), whereas gain-of-function mutations lead to autosomal dominant hypocalcaemia (ADH). However, CASR mutations are only detected in ≤70% of FHH and ADH cases, referred to as FHH type 1 and ADH type 1, respectively, and studies in other FHH and ADH kindreds have revealed these disorders to be genetically heterogeneous. Thus, loss- and gain-of-function mutations of the GNA11 gene on chromosome 19p13.3, which encodes the G-protein α-11 (Gα11) subunit, lead to FHH type 2 and ADH type 2, respectively; whilst loss-of-function mutations of AP2S1 on chromosome 19q13.3, which encodes the adaptor-related protein complex 2 sigma (AP2σ) subunit, cause FHH type 3. These studies have demonstrated Gα11 to be a key mediator of downstream CaSR signal transduction, and also revealed a role for AP2σ, which is involved in clathrin-mediated endocytosis, in CaSR signalling and trafficking. Moreover, FHH type 3 has been demonstrated to represent a more severe FHH variant that may lead to symptomatic hypercalcaemia, low bone mineral density and cognitive dysfunction. In addition, calcimimetic and calcilytic drugs, which are positive and negative CaSR allosteric modulators, respectively, have been shown to be of potential benefit for these FHH and ADH disorders.

scholarly journals The Calcimimetic Cinacalcet Normalizes Serum Calcium in Subjects with Primary Hyperparathyroidism

2003 ◽  
Vol 88 (12) ◽  
pp. 5644-5649 ◽  
Author(s):  
Dolores M. Shoback ◽  
John P. Bilezikian ◽  
Stewart A. Turner ◽  
Laura C. McCary ◽  
Matthew D. Guo ◽  
...  
Keyword(s):  
Placebo Group ◽  
Primary Hyperparathyroidism ◽  
Serum Calcium ◽  
Urinary Calcium ◽  
Dose Finding ◽  
Calcium Excretion ◽  
Normal Range ◽  
Urine Calcium ◽  
Novel Therapy ◽  
Double Blind

Abstract Calcimimetics increase the sensitivity of the calcium-sensing receptor (CaR) to circulating serum calcium, reducing the secretion of PTH and the serum calcium concentration. We evaluated the calcimimetic cinacalcet, a novel therapy for the management of primary hyperparathyroidism. In this randomized, double-blind, dose-finding study, patients (n = 22) with primary hyperparathyroidism were given cinacalcet (30, 40, or 50 mg) or placebo twice daily for 15 d and observed for an additional 7 d. Serum calcium, plasma PTH, and 24-h and fasting urine calcium were measured. Baseline mean serum calcium was 10.6 mg/dl for the combined cinacalcet-treated patients (normal range, 8.4–10.3 mg/dl), compared with 10.4 mg/dl for the placebo group. Mean PTH at baseline was 102 pg/ml (normal range, 10–65 pg/ml) for the combined cinacalcet-treated patients, compared with 100 pg/ml in the placebo group. Serum calcium normalized after the second dose on d 1 and remained normal through d 15 in all cinacalcet dose groups. Maximum decreases in PTH of over 50% occurred 2–4 h after dosing in all cinacalcet-treated groups. The fasting and 24-h urine calcium to creatinine ratios were similar in the cinacalcet and placebo groups. This study demonstrates that cinacalcet safely normalized serum calcium and lowered PTH concentrations without increasing urinary calcium excretion in the study subjects, indicating the potential benefit of cinacalcet as a medical treatment for primary hyperparathyroidism.

scholarly journals Vitamin D Repletion in Patients with Primary Hyperparathyroidism and Coexistent Vitamin D Insufficiency

2005 ◽  
Vol 90 (4) ◽  
pp. 2122-2126 ◽  
Author(s):  
Andrew Grey ◽  
Jenny Lucas ◽  
Anne Horne ◽  
Greg Gamble ◽  
James S. Davidson ◽  
...  
Keyword(s):  
Vitamin D ◽  
Primary Hyperparathyroidism ◽  
Serum Calcium ◽  
Serum Alkaline Phosphatase ◽  
Vitamin D Insufficiency ◽  
Urinary Calcium ◽  
Urinary Calcium Excretion ◽  
Total Serum ◽  
Calcium Excretion ◽  
Intact Pth

Abstract Vitamin D insufficiency is common in patients with primary hyperparathyroidism (PHPT) and may be associated with more severe and progressive disease. Uncertainty exists, however, as to whether repletion of vitamin D should be undertaken in patients with PHPT. Here we report the effects of vitamin D repletion on biochemical outcomes over 1 yr in a group of 21 patients with mild PHPT [serum calcium &lt;12 mg/dl (3 mmol/liter)] and coexistent vitamin D insufficiency [serum 25 hydroxyvitamin D [25(OH)D] &lt;20 μg/liter (50 nmol/liter)]. In response to vitamin D repletion to a serum 25(OH)D level greater than 20 μg/liter (50 nmol/liter), mean levels of serum calcium and phosphate did not change, and serum calcium did not exceed 12 mg/dl (3 mmol/liter) in any patient. Levels of intact PTH fell by 24% at 6 months (P &lt; 0.01) and 26% at 12 months (P &lt; 0.01). There was an inverse relationship between the change in serum 25(OH)D and that in intact PTH (r = −0.43, P = 0.056). At 12 months, total serum alkaline phosphatase was significantly lower, and urine N-telopeptides tended to be lower than baseline values (P = 0.02 and 0.13, respectively). In two patients, 24-h urinary calcium excretion rose to exceed 400 mg/d, but the group mean 24-h urinary calcium excretion did not change. These preliminary data suggest that vitamin D repletion in patients with PHPT does not exacerbate hypercalcemia and may decrease levels of PTH and bone turnover. Some patients with PHPT may experience an increase in urinary calcium excretion after vitamin D repletion.

scholarly journals Inhibition of calbindin D28K expression by cyclosporin A in rat kidney: the possible pathogenesis of cyclosporin A-induced hypercalciuria.

1998 ◽  
Vol 9 (8) ◽  
pp. 1416-1426
Author(s):  
C W Yang ◽  
J Kim ◽  
Y H Kim ◽  
J H Cha ◽  
S Y Mim ◽  
...  
Keyword(s):  
Cyclosporin A ◽  
Serum Calcium ◽  
Protein Level ◽  
Rat Kidney ◽  
Urinary Calcium ◽  
Calcium Handling ◽  
Calcium Excretion ◽  
Urine Calcium ◽  
Calbindin D28k ◽  
Urine Calcium Excretion

A recent study by Steiner et al. (Biochem Pharmacol 51: 253-258, 1996) demonstrated a decreased calbindin D28K expression in the kidneys of cyclosporin A (CsA)-treated rats. To evaluate the association of renal calcium handling with calbindin D28K expression in CsA-treated rats, two separate experiments (vehicle [VH] versus CsA groups, 1,25-dihydroxyvitamin D3 [VitD] versus VitD + CsA groups) were done simultaneously. CsA (25 mg/kg per d, subcutaneously) and VitD (0.5 microg/kg per d, subcutaneously) were given for 7 d. The CsA group showed decreased serum calcium, increased urine calcium excretion, and decreased calbindin D28K protein level and immunoreactivity compared with the VH group. The VitD + CsA treatment decreased serum calcium, increased urine calcium excretion, and decreased calbindin D28K protein level and immunoreactivity compared with the VitD alone. CsA treatment did not affect the serum parathyroid hormone and VitD levels. This study demonstrates an association of calbindin D28K expression with the urinary calcium excretion in CsA-treated rats, and suggests that decreased calbindin D28K expression may play a role in renal calcium wasting.

scholarly journals Successful Parathyroidectomy May Not Resolve Hypercalciuria in Patients With Primary Hyperparathyroidism

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A226-A226
Author(s):  
Neriy Izkhakov ◽  
Heranmaye Prasad ◽  
Nicholas John Vernetti ◽  
Samer Nakhle
Keyword(s):  
Primary Hyperparathyroidism ◽  
Serum Calcium ◽  
Clinical Case ◽  
Case Series ◽  
Urinary Calcium ◽  
Long Term Effects ◽  
Normal Range ◽  
History Of ◽  
Average Serum

Abstract Background: Hypercalciuria, with twenty-four-hour urinary calcium of &gt;400 mg/day, is one of the indications for parathyroidectomy in patients with primary hyperparathyroidism. We report five cases where hypercalciuria is not resolved following a successful parathyroidectomy (normalization of serum calcium) in such patients. Here resolution of hypercalciuria is defined as twenty-four-hour urinary calcium of less than 200 mg/day. Clinical Case: This is a case series of five patients who remained hypercalciuric at 6 to 19 months after successful parathyroidectomy. Pre-parathyroidectomy, average PTH was 95 pg/dL (Min 69 pg/dL, Max 120 pg/dL), average serum calcium was 11.0 mg/dL (min 10.3 mg/dL, max 12.0 mg/dL), and average twenty-four-hour urinary calcium was 455 mg/day (min 386 mg/day, max 551 mg/day). Calcium levels were corrected to normal range post-parathyroidectomy and remained in normal range. However, hypercalciuria did not resolve. Post-parathyroidectomy, average PTH was 44 pg/dL (min 25 pg/dL, max 69 pg/dL), average serum calcium was 9.6 mg/dL (min 9.3 mg/dL, max 9.8 mg/dL), and average twenty-four-hour urinary calcium was 284 mg/day (min 201 mg/day, max 376 mg/day). Two patients who had history of nephrolithiasis prior to parathyroidectomy continued to develop nephrolithiasis at six and sixteen months after successful parathyroidectomy. Conclusions: This case series showed that hypercalciuria may not resolve following a successful parathyroidectomy in patients with primary hyperparathyroidism and elevated twenty-four-hour urinary calcium at 6 to 19 months after surgery. Further observations to evaluate long term effects of parathyroidectomy on hypercalciuria is needed.

scholarly journals An Interesting Case of Life-Threatening Hypercalcemia Secondary to Atypical Parathyroid Adenoma versus Parathyroid Carcinoma

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Ankur Mishra ◽  
David Newman
Keyword(s):  
Parathyroid Adenoma ◽  
Serum Calcium ◽  
Parathyroid Carcinoma ◽  
Interesting Case ◽  
High Serum ◽  
En Bloc ◽  
Severe Hypercalcemia ◽  
Parathyroid Adenomas ◽  
Life Threatening ◽  
Atypical Parathyroid Adenoma

Context.Severe hypercalcemia is a life-threatening condition. Atypical parathyroid adenoma and parathyroid carcinomas are uncommon causes which can be difficult to differentiate.Objective.We report a case of a 36-year-old male with very high serum calcium due to a possible atypical parathyroid adenoma versus parathyroid carcinoma.Case Illustration.A serum calcium level of 23.2 mg/dl was noted on admission. He was initially treated with IV hydration, pamidronate, and salmon calcitonin to lower his calcium levels. He also underwent a surgical en bloc resection of parathyroid mass. Pathology showed a mixed picture consistent with possible atypical adenoma versus parathyroid carcinoma. However, due to the possible involvement of the recurrent laryngeal nerve, parathyroid carcinoma was more likely. Also after operation the patient developed hungry bones syndrome and his calcium was replaced vigorously. He continues to be on calcium, vitamin D, and calcitriol supplementation.Results.A review of the literature was conducted to identify previous studies pertaining to parathyroid adenomas and parathyroid cancer.Conclusion.We thereby conclude that hypercalcemia requires very careful monitoring especially after operation. Also it can be very difficult to distinguish between atypical parathyroid adenomas and parathyroid carcinomas as in our case and no clear cut guidelines yet exist to differentiate the two based on histology.

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