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Query: UMLS:C0221002 (primary hyperparathyroidism)
 4,921 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Surgical treatment for primary hyperparathyroidism (HPT) is effective in 90% of cases. Recurrent or persistent HPT occurs in 10% of cases. Parathyroid imaging is indicated to confirm and locate an abnormal gland before reoperation. The aim of this study was to evaluate whether the combination of 99Tcm sestamibi scintigraphy, MRI and venous blood sampling (VBS) improved the overall sensitivity for abnormal parathyroid gland detection. 18 patients with recurrent or persistent HPT underwent sestamibi scintigraphy (n = 18), MRI (T1 weighted and STIR sequences) (n = 18) and venous blood sampling (n = 12) at different sites (internal jugular veins, innominate veins, and superior vena cava). All patients underwent surgical exploration. MRI yielded positive results in 15 cases (sensitivity 88%), sestamibi scintigraphy in 14 cases (83%) and VBS in 10 cases out of 12 (83%). Combined results of MRI, sestamibi and VBS yielded positive results in 16 cases (94%). The combination of MRI, sestamibi scintigraphy and VBS improved accuracy in detecting abnormal parathyroid glands before reoperation.
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PMID:Technetium-99m sestamibi scintigraphy, magnetic resonance imaging and venous blood sampling in persistent and recurrent hyperparathyroidism. 953 11

We report monozygotic twins who showed different MEN1 phenotypes. The proband (28 y.o., female) had both primary hyperparathyroidism (PHP) and insulinoma, and genetic analysis revealed a point mutation (569del1, exon 3) of the MEN1 gene. This mutation causes a frameshift and produces a stop codon at codon 184. Restriction digestion (HinfI) analysis confirmed the same mutation of the MEN1 gene in six of the affected members including her two sisters, the monozygotic twins, and no such mutation in two unaffected members. In two generations of this family, eight of eleven family members had PHP and four of them were found to have other MEN1-related lesions. Both of the monozygotic twins had PHP. Interestingly, one had pancreatic tumor but the other had no evidence of it. Pituitary MRI showed no pituitary lesion in either of them. This is the first Japanese case of monozygotic twins with different MEN1 phenotypes.
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PMID:Different phenotypes of multiple endocrine neoplasia type 1 (MEN1) in monozygotic twins found in a Japanese MEN1 family with MEN1 gene mutation. 1081 Dec 91

A 35-year old woman was admitted to our hospital because of slowly increased numbness of lower truncus and the legs for 10 months. She showed atopic dermatitis on her nape and bilateral popliteal fossa, and signs and symptoms of anorexia nervosa, such as asitia, emaciation, and menopause. Neurologic examination revealed Lhermitte's sign, muscle weakness of bilateral hands, deep and superficial sensory disturbance below the Th 4 level of thoracic spinal cord, and increased tendon reflexes of four limbs. Laboratory data showed hyperIgEemia and high titer of mite antigen specific IgE in sera. Cervical MRI demonstrated abnormal intensity area located at the C6 to C7 segments (i.e. low intensity in T1 weighted images and high in T2). She also showed hypercalcemia and swelling of the parathyroid gland, and had been diagnosed primary hyperparathyroidism by scintigram of the parathyroid gland. We concluded that this case is thought to be atopic myelitis, which has been recently reported as acute myelitis associated with hyperIgEemia and atopic dermatitis proposed by Kira et al. (1997). The patient also had anorexia nervosa and primary hyperparathyroidism.
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PMID:[A case of atopic myelitis]. 1088 30

The paper presents current diagnostic and therapeutic approach in parathyroid cancer. The suspicion of parathyroid cancer should be taken into account in patients with primary hyperparathyroidism symptoms (and elevated total and ionised calcium blood level and PTH blood level), present palpable cervical mass and enlarged cervical lymph nodes. Further diagnosis should be based on ultrasound of the neck (including power-Doppler ultrasound), subtraction 99mTc-MIBI and 123J scintigraphy, ultrasound-guided fine needle aspiration, and CT or MRI if necessary to assess the stage of the process. The elective surgical procedure should be primary 'en block' excision of the tumour with the unilateral thyroid lobe and the following loco-regional adjuvant radiotherapy. Patients who underwent surgical treatment due to parathyroid cancer require long-term follow-up as the risk of local recurrence or distant metastases (mostly into lungs or bones) remains high even many years after initial operation. Patients with dissemination usually suffer from severe hypercalcemia leading to death if untreated correctly. Thus, so crucial is effective treatment of hypercalcemia (diuresis, biphosphonates, calcitonine, oktreotide).
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PMID:[Parathyroid neoplasm--diagnostic challenge and therapeutic difficulty]. 1090 88

We report our experience and technique of endoscopic removal of parathyroid adenomas in case of primary hyperparathyroidism. Scintigraphy, MRI scan and cervical ultrasound enable exact diagnosis and therefore exact localisation and placement of the three 5 mm trocars for endoscopic operation. The placement of the optic and the function trocars depends on the localisation of the adenoma. The free room to work in is created between thyroid and neck muscles and supported by insufflated CO2 with a pressure of 12 mm Hg. After the adenoma is taken out through an incision above the jugulum. With this technique we operated upon 3 patients successfully. Benefits for the patients seem to be a less painful postoperative course with minimal blood loss because of the exact exploration of the adenoma with minimal invasion of the surrounding tissue.
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PMID:[Endoscopic parathyroidectomy. Surgical technique in primary hyperparathyroidism]. 1114 18

We measured the efficacy of preoperative localization techniques and results of parathyroidectomy in patients with primary hyperparathyroidism (HPT). From 1986 to 2001, 92 patients were treated with primary HPT. Preoperative localization technique was used in all patients (US n = 85, Tc-99m-sestamibi/Tc-99m-pertechnetate subtraction scintigraphy n = 67, CT n = 18, MRI n = 14) to visualize the abnormal parathyroids. Results of localization studies were compared with surgical and pathological findings. Bilateral neck exploration was carried out in each patient for the identification of all parathyroid glands. If parathyroid adenoma was diagnosed, exstirpation of the abnormal parathyroid was performed. If diffuse hyperplasia was diagnosed, subtotal parathyroidectomy (3 1/2) was performed. The overall sensitivity was 94% for scintigraphy, 74% for US, 67% for CT and 50% for MRI. The PPV was 97% for scintigraphy, 92% for US, 100% for CT and for MRI. At surgery 66 patients had single adenomas and 3 patients had double adenomas. Diffuse hyperplasia was diagnosed in 21 and parathyroid carcinoma was found in 2 patients. Persistent HPT was noted in 1 patient. Recurrent HTP occurred 4 times. After a second operation their HPT disappeared. In conclusion, the sensitivity of Technetium-99m-sestambi and Technetium-99m-pertechnetate subtraction scanning was significantly superior compared to other localization methods. The use of these sensitive preoperative technique can improve the success rate, and decrease the incidence of persistent and recurrent HPT.
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PMID:[Fifteen years experience in the surgical treatment of primary hyperparathyroidism]. 1181 31

Ectopic adenoma is the main cause of surgery failure in the treatment of primary hyperparathyroidism (HPT). Localization of the abnormal glands is therefore necessary before a reoperation. We report two cases illustrating the interest of MRI and selective venous sampling of parathormone. In two patients with persistent hyperparathyroidism, ultrasound and sestamibi scanning failed to localize the ectopic glands. MRI suggested the presence of an adenoma in the mediastinum for the first patient and inside the thyroid for the second. In both cases, the localisation was confirmed by venous sampling and the reoperation was a success. We review the recent literature on this topic and we propose a diagnostic approach of persistent HPT.
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PMID:[Diagnostic strategy in persistent hyperparathyroidism. Report of two cases and review of the literature]. 1193 78

A rare case of von Hippel-Lindau (VHL) disease with bilateral pheochromocytomas, right renal cell carcinoma, right pelvic carcinoma, spinal hemangioblastoma and primary hyperparathyroidism is described. A 78-year-old woman had a history of hypertension from her forties. She suffered from headache and body weight loss. Abdominal CT revealed bilateral adrenal tumors and right external renal tumors enhanced in early stage. MIBG scintigraphy exhibited a high accumulation of tracer in both adrenal glands. On the basis of the radiographic findings and endocrinological results, the patient was diagnosed as having bilateral pheochromocytomas and right renal cell carcinoma. A bilateral adrenectomy was performed, followed by surgery for resection of the renal cell carcinoma. The other resected right kidney showed a clear cell subtype that was determined to be renal cell carcinoma, and proved that the pelvic tumor was transient cell carcinoma. Spinal MRI showed spinal hemangioblastoma. von Hippel-Lindau (VHL) gene mutation for the patient was found. We diagnosed the patient as VHL because of the existence of spinal hemangioma and a VHL disease gene. Parathyroid echo revealed a hypoechoic space on the back of the left lobe, and serum calcium and intact PTH to be elevated. The patient was diagnosed as primary hyperparathyroidism. We report the first case of a patient with VHL disease complicated with bilateral pheochromocytomas, right renal cell carcinoma, right renal pelvic carcinoma and primary hyperparathyroidism. The life expectancy of affected individuals has been less than 50 years. Since the prognosis may be improved by an early diagnosis, affected individuals with VHL complexes should undergo cranial, spinal MRI and abdomen CT. The families may benefit from presymptomatic detection of affected gene carriers and the exclusion of at-risk family members by negative test results.
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PMID:A case of von Hippel-Lindau disease with bilateral pheochromocytoma, renal cell carcinoma, pelvic tumor, spinal hemangioblastoma and primary hyperparathyroidism. 1208 Dec 37

Patients with recurrent or persistent primary hyperparathyroidism have increased operative risk because of scarring in the operative field and the frequent presence of an ectopic gland. Preoperative imaging studies will identify the hyperfunctioning parathyroid gland in the majority of circumstances. The best types or combination of imaging tests has not been definitely established. However, because of their wide availability and demonstrated sensitivity, US and sestamibi scans are most commonly obtained. Based on the clinical setting, additional tests including CT or MRI may be useful. In circumstances when the noninvasive imaging modalities are inconclusive, invasive imaging tests including selective angiography venous sampling and/or direct fine needle aspiration should be used. IOUS, MIRP, and intraoperative PTH determination are useful adjuncts to the safe and successful conduct of reoperative parathyroid surgery: however, the benefit of the routine use of these modalities in reoperative parathyroid surgery has yet to be critically determined.
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PMID:Role of preoperative localization and intraoperative localization maneuvers including intraoperative PTH assay determination for patients with persistent or recurrent hyperparathyroidism. 1241 90

In this study, we report an 84-year-old female proband in a Japanese family with familial hypocalciuric hypercalcemia (FHH) caused by an R648stop mutation in the extracellular calcium-sensing receptor (CaR) gene. At the age of 71 years, she presented with hypercalcemia (11.4 mg/dl), hypocalciuria (Cca/Ccr = 0.003), hypermagnesemia (2.9 mg/dl), and a high-serum parathyroid hormone (PTH) level (midregion PTH, 3225 [160-520] pg/ml). At the age of 74 years, a family screening was carried out and revealed a total of 9 hypercalcemic individuals (all intact PTH values <62 pg/dl) among 17 family members tested, thus, being diagnosed as FHH. Two and one-half of three clearly enlarged parathyroid glands were resected, because persistently high PTH levels (intact PTH, 292 pg/ml; midregion PTH, 5225 pg/ml) and the presence of a markedly enlarged parathyroid gland by several imaging modalities (ultrasonography, computed tomography [CT], magnetic resonance imaging [MRI], and subtraction scintigraphy) suggested coexistent primary hyperparathyroidism (pHPT); however, hypercalcemia persisted postoperatively. Histological and immunohistochemical examination revealed that the resected parathyroid glands showed lipohyperplasia as well as normally expressed Ki67, vitamin D receptor (VDR), and the CaR. Sequence analysis disclosed that the proband and all affected family members had a heterozygous nonsense (R648stop) mutation in the CaR gene. This mutation is located in the first intracellular loop; thus, it would be predicted to produce a truncated CaR having only one transmembrane domain (TMD) and lacking its remaining TMDs, intracellular loops, and C-terminal tail. Western analysis of biotinylated HEK293 cells transiently transfected with this mutant receptor showed cell surface expression of the truncated protein at a level comparable with that of the wild-type CaR. The mutant receptor, however, exhibited no increase in intracellular free calcium concentration (Ca2+i) when exposed to high extracellular calcium concentrations (Ca2+o). The proband's clinical course was complicated because of associated renal tubular acidosis (RTA) and nephrotic syndrome. However, it was unclear whether their association affected the development of elevated serum PTH and parathyroid gland enlargement. This report is the first to show that an R648stop CaR mutation yields a truncated receptor that is expressed on the cell surface but is devoid of biological activity, resulting in FHH.
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PMID:Familial hypocalciuric hypercalcemia caused by an R648stop mutation in the calcium-sensing receptor gene. 1246 11


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