Cases reported "Hyperparathyroidism"

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1/21. color-Doppler in the imaging work-up of primary hyperparathyroidism.

    Primary hyperparathyroidism (PHP) is a rare disease that must be suspected in all the cases of recurrent calcium nephrolithiasis, and that may be totally corrected by surgery. The imaging techniques permit to locate the hyperplastic gland or adenoma before intervention, but their usefulness in patients without a history of previous neck surgery is still debated. Several imaging techniques have been proposed with the aim of locating parathyroid hyperfunctioning glands, including high resolution sonography (US) with color-Doppler (CD), scintigraphy, computed tomography (CT) and magnetic resonance imaging (MRI). We report here a case of recurrent calcium oxalate nephrolithiasis sustained by PHP, which demonstrates how US coupled with CD and echocontrast enhancement is useful in the preoperative location of parathyroid glands. US is the first choice technique in the evaluation of PHP because it is less expensive and useful in detailing lesions of the neck when carried out by a skilled operator. CD should be regarded as a useful complement of US enhancing its sensitivity (80 vs 90%) especially in the cases of associated thyroid gland diseases. Tc-99m SESTAMIBI scintigraphy coupled with MRI is mandatory in high risk surgical patients, namely in those undergoing repeated neck surgery. In conclusion, considering that surgeon must explore all the four parathyroid glands (because of the possibility of multiple adenomas or hyperplasia) a well definite location of the adenomatous lesion may reduce the risks and the time of intervention, and allow the use of alternative procedures, such as videoscopic surgery. On this view and in terms of economy, only US and CD coupled with Tc-99 SESTAMIBI scintigraphy should be considered before surgery.
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keywords = nephrolithiasis
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2/21. calculi complicating a renal transplant.

    Four months after a cadaver kidney transplant, kidney stones were found in the renal allograft. Three major predisposing causes of nephrolithiasis were found in the patient, including hyperparathyroidism, renal tubular acidosis, and urinary tract infection. hypercalcemia was corrected by parathyroidectomy. During the subsequent three years there was no enlargement of the renal stones and adequate kidney function was maintained. Renal tubular acidosis was not severe and seemed to be related to chronic rejection. urinary tract infection was readily corrected with antibiotics and did not recur after the immediate post-transplant period. Surgical therapy for nephrolithiasis involving a kidney allograft was defferred since urinary flow was not obstructed. This course of management is recommended for use in patients with calculi complicating renal transplantation.
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3/21. A case report of primary hyperparathyroidism with severe bony involvement and nephrolithiasis.

    INTRODUCTION: Although the majority of patients with primary hyperparathyroidism have a relatively asymptomatic benign disorder, there are patients who have a more aggressive disorder. CLINICAL PICTURE: We report a case of primary hyperparathyroidism presenting during pregnancy complicated by antepartum haemorrhage and severe prematurity. The diagnosis was made postpartum, when her problems rapidly progressed to result in severe neuromuscular weakness, bilateral pathological hip fractures as well as nephrolithiasis. TREATMENT: Surgical parathyroidectomy was performed. The underlying lesion was a large solitary parathyroid adenoma with cystic elements. CONCLUSION: Primary hyperparathyroidism is not an innocuous disease and can result in severe morbidity if left untreated.
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keywords = nephrolithiasis
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4/21. nephrolithiasis during pregnancy secondary to primary hyperparathyroidism.

    nephrolithiasis secondary to primary hyperparathyroidism infrequently complicates pregnancy. It can cause severe maternal and fetal complications. We present a case of a pregnant woman with nephrolithiasis and primary hyperparathyroidism. We reviewed the management of nephrolithiasis due to primary hyperparathyroidism during pregnancy. We believe that early recognition and timely intervention can significantly reduce the incidence of complications.
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5/21. Isolated familial hyperparathyroidism with a novel mutation of the MEN1 gene.

    OBJECTIVE: To describe two cases of familial hyperparathyroidism with genetic analysis and report a new gene mutation. methods: Clinical and laboratory details of a brother and sister with hyperparathyroidism and nephrolithiasis are presented. The family history is reviewed, and results of direct sequencing analysis for mutations in the MEN1 gene are discussed. RESULTS: Isolated familial hyperparathyroidism is uncommon. Whether this condition is a partial expression of multiple endocrine neoplasia type I, a well-known genetic disorder, or an independent entity is being debated and studied. Two cases of hyperparathyroidism were diagnosed in a brother and a sister from a family that has expressed isolated hyperparathyroidism in several family members as the only manifestation thus far. A novel genetic mutation involving a CGG to CGT alteration in codon 219 of the MEN1 gene was discovered; to our knowledge, this particular variation has not been reported previously. CONCLUSION: In patients with isolated familial hyperparathyroidism, a search for a mutation in the MEN1 gene may eventually help clarify this uncommon familial condition.
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6/21. Familial primary hyperparathyroidism: study of the pedigree in three generations.

    The familial occurrence of primary hyperparathyroidism in which the proband is a 55-year-old man is reported. His 58-year-old sister and 40-year-old brother had undergone partial parathyroidectomy, and histological examination revealed hyperplasia in both cases. Their father and a daughter of the proband had a history of nephrolithiasis. The three siblings showed high levels of plasma parathyroid hormone (even the two postoperative cases). All of them had a history of nephrolithiasis and peptic ulcers. In the proband, image studies did not reveal any abnormality in the neck region. At present, the three cases do not exhibit any abnormalities in the pancreas or the pituitary by imaging studies and endocrine tests.
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7/21. hyperparathyroidism and pregnancy: case report and review.

    In pregnant women with symptomatic hyperparathyroidism, parathyroidectomy should be undertaken during the second trimester. We feel that the woman who is initially diagnosed well into the third trimester should be treated medically unless the hypercalcemia worsens or other complications occur. Since the treatment of asymptomatic hyperparathyroidism itself is controversial, it is even more difficult to define the treatment plan for an asymptomatic pregnant patient who has primary hyperparathyroidism. However, a recent consensus panel recommended that young patients with asymptomatic hyperparathyroidism be treated surgically. Accordingly, we believe that the asymptomatic pregnant patient should also be treated surgically, preferably in the second trimester. Whether a patient is treated medically or surgically in these situations, the pregnancy should be considered high-risk. The neonate should be monitored carefully for signs of hypocalcemia or impending tetany. If the mother is treated medically to term (or if spontaneous or elective abortion occurs), the mother should be monitored for hyperparathyroid crisis postpartum. Sudden worsening of hypercalcemia can result from the loss of the placenta (active placental calcium transport may be somewhat protective) and dehydration. Finally, every effort should be made to make the definitive diagnosis early in pregnancy in order to initiate optimal management. The diagnosis should be suspected during pregnancy if the following conditions exist: appropriate clinical signs or symptoms (especially nephrolithiasis or pancreatitis), hyperemesis beyond the first trimester, history of recurrent spontaneous abortions/stillbirths or neonatal deaths, neonatal hypocalcemia or tetany, or a total serum calcium concentration greater than 10.1 mg/dL (2.52 mmol/L) or 8.8 mg/dL (2.2 mmol/L) during the second or third trimester, respectively.
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keywords = nephrolithiasis
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8/21. Multiple ectopic parathyroid adenomas.

    CONTEXT: Primary hyperparathyroidism is the most common cause of hypercalcemia in unselected patients. The ectopic gland locations should be known for appropriate surgical exploration and for avoiding subsequent re-exploration that would represent higher morbidity. Multiple ectopic glands are rare and present a particular challenge in parathyroid surgery. CASE REPORT: A 65-year-old female presented with nephrolithiasis. Her serum total calcium was found to be elevated. The diagnosis of primary hyperparathyroidism was confirmed by the elevated serum intact parathyroid hormone levels. Ultrasound was only successful in localizing one adenoma in the lower right gland. technetium sestamibi scanning correctly localized the same adenoma and showed another contralateral image, lateral to the thyroid cartilage. Fiber optic laryngoscopy showed an extrinsic mass pushing against the lateral and posterior walls of the left pyriform sinus. Resonance imaging revealed a soft tissue mass. RESULTS: The patient underwent bilateral neck exploration. Histopathological examination confirmed the diagnosis of parathyroid double adenomas. The late-stage postoperative checkups were normal. DISCUSSION: Routine bilateral neck surgery should be performed as a rule. We use ultrasound and technetium sestamibi scanning as a routine for preoperative localization studies. It is helpful to have an experienced surgeon for the localization.
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keywords = nephrolithiasis
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9/21. Parathyroid carcinoma: clinical and pathologic features in 43 patients.

    Parathyroid carcinoma accounts for 0.5 to 5% of all cases of hyperparathyroidism. We reviewed the clinical, surgical, and pathologic features observed in all patients with parathyroid carcinoma evaluated at the Mayo Clinic from 1920 through 1991. Forty-three patients (22 women, 21 men; mean age, 54 yrs, range 29-72) were identified, including 2 with familial hyperparathyroidism. Information on initial presentation was available in 40 patients: 15 (38%) presented with polydipsia or polyuria, 11 (27%) with myalgias or arthralgias, 7 (17%) with weight loss, and 4 (10%) with nephrolithiasis; 3 patients (7%) were asymptomatic at presentation. Of 31 patients in whom the initial neck examination was recorded, 14 (45%) had a palpable neck mass. The mean serum calcium and serum phosphorus levels were 14.6 mg/dl and 2.3 mg/dl, respectively. parathyroid hormone levels were elevated in 21 of 21 patients (mean elevation, 10.2 times upper limit of normal). Complications included nephrolithiasis in 14 of 25 patients (56%), bone disease in 20 of 22 patients (91%) and both in 8 of 15 patients (53%). All patients underwent primary surgical resection of parathyroid carcinoma. Twenty-six of 43 patients (60%) required a second operation with 18 patients requiring multiple re-explorations. At the second operation, residual tumor was found in the neck (68%), mediastinum (16%), or both (12%). Six patients received radiation therapy to the neck (5 patients) or bones (1 patient) for recurrent or metastatic disease. Of these, 1 patient appeared cured of parathyroid carcinoma by radiation therapy 11 years after documented tumor invasion of his trachea. Repeated excision of tumor recurrences was an effective means of controlling hypercalcemia in these patients.(ABSTRACT TRUNCATED AT 250 WORDS)
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keywords = nephrolithiasis
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10/21. Parathyroid hyperplasia as a cause of recurrent hyperparathyroidism.

    Parathyroid hyperplasia is second only to adenoma as the most common cause of hyperparathyroidism. Symptoms are most likely to result from elevated serum calcium levels. Symptoms include nephrocalcinosis and nephrolithiasis. Studies that may help confirm a suspected diagnosis include ultrasonography, computed tomography, radionuclide scanning with thallium and/or technetium, and magnetic resonance imaging. Surgical treatment consists of excision of all but part of one parathyroid gland if all of the glands are enlarged.
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