Cases reported "Hyperparathyroidism"

Filter by keywords:



Filtering documents. Please wait...

11/65. Inactivating mutations of calcium-sensing receptor results in parathyroid lipohyperplasia.

    Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disease characterized by mild hypercalcemia, an inappropriately high parathyroid hormone level, and absence of hypercalciuria. Heterozygous inactivating mutations of calcium-sensing receptor (CaSR) are found in about two thirds of patients with FHH. Histologic examination of parathyroid glands in FHH is reported to show normal histology or chief cell hyperplasia. Thus, histologic features of the parathyroid glands in FHH vary, and there is no clear histologic criterion that indicates FHH. The authors have encountered three hypercalcemic patients with characteristic histologic features of enlarged parathyroid glands. Clusters of parenchymal cells were mixed with fat cells, and the area of fat cells was 33% to 49% of the total area. These features are similar to those described as parathyroid lipohyperplasia. Postoperative evaluation showed that fractional excretion of calcium was low in these patients. Direct sequencing of the polymerase chain reaction product showed that the first patient was heterozygous for an already reported inactivating mutation of CaSR (P55L). The second patient was also heterozygous for a novel inactivating mutation (R220W). The third was homozygous for an inactivating mutation (Q27R). These results indicate that histologic features of parathyroid lipohyperplasia suggest the presence of inactivating mutations of CaSR.
- - - - - - - - - -
ranking = 1
keywords = dominant
(Clic here for more details about this article)

12/65. Evaluation of the parathyroid function in six patients with hypophosphatemic osteomalacia, including a case of tertiary hyperparathyroidism developing during combined oral phosphate and vitamin D therapy.

    AIM: To describe a case of tertiary hyperparathyroidism after long-term phosphate and vitamin D therapy and the retrospective evaluation of parathyroid function in 6 patients with hypophosphatemic osteomalaica. methods: We evaluated the parathyroid function by measuring iPTH before and during treatment and divided the patients into normal and elevated serum iPTH groups. RESULTS: In the normal serum iPTH group, the 4 patients were all males, whereas the 2 patients in the elevated serum iPTH group were females. Clinical characteristics and biochemical results showed no differences between the two groups. One of the women with an elevated iPTH level (224 pg/ml) had a normal serum calcium level and no evidence of increasing parathyroid uptake by (99m)Tc-MIBI scan 52 months after treatment. The other woman also had an elevated iPTH level (483 pg/ml) and a normal serum calcium level 56 months after treatment. However, in this latter case both her iPTH (1,447 pg/ml) and serum calcium (11.3 mg/dl) levels were elevated 113 months after treatment, when a (99m)Tc-MIBI scan showed increased uptake in all four parathyroid glands during early and delayed phases of the scan. parathyroidectomy was performed after the diagnosis of tertiary hyperparathyroidism was made, and the histological findings showed adenomatous hyperplasia. CONCLUSIONS: Our findings indicate that even with vitamin D therapy, long-term phosphate therapy may lead to the development of secondary or tertiary hyperparathyroidism in hypophosphatemic osteomalacia and, therefore, suggest that it is important to carefully monitor the parathyroid function during therapy in those with hypophosphatemic osteomalacia.
- - - - - - - - - -
ranking = 849366.97482886
keywords = hypophosphatemic
(Clic here for more details about this article)

13/65. Tertiary hyperparathyroidism during high phosphate therapy of familial hypophosphatemic rickets.

    We report the development of severe tertiary hyperparathyroidism in three girls treated for familial hypophosphatemic rickets and characterize parathyroid function in vivo and in vitro. All patients had been previously treated with relatively large doses of inorganic phosphorus (125 mm/day) and ergocalciferol or calcitriol for several years and had radiographic evidence of long-standing hyperparathyroidism. Even in the presence of extremely elevated PTH levels, oral phosphate lowered serum calcium levels in vivo and further stimulated PTH secretion. Profound multiglandular parathyroid hyperplasia was found in each patient at surgery. Examination of the secretory characteristics of the excised parathyroid tissue revealed that either relatively high calcium concentrations were generally needed to suppress PTH secretion or PTH secretion was not suppressible. Caution is recommended when relatively large doses of phosphate are used to treat familial hypophosphatemic rickets.
- - - - - - - - - -
ranking = 1203315.3468559
keywords = hypophosphatemic, hypophosphatemic rickets, rickets
(Clic here for more details about this article)

14/65. Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy.

    Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant condition due to heterozygous loss of function calcium sensing receptor (CaSR) mutations. However, individuals who are homozygous for CaSR mutations have neonatal severe hyperparathyroidism (NSHPT), which unlike the relatively benign and asymptomatic FHH can be fatal without parathyroidectomy. We report three patients with NSHPT associated with marked hypercalcaemia and severe hyperparathyroidism with related skeletal demineralisation. We describe the novel use of intravenous pamidronate in NSHPT, to control severe hypercalcaemia in these patients prior to parathyroidectomy and in one individual as a rescue therapy to stabilise life-threatening demineralisation. Furthermore, a marked phenotypic heterogeneity was observed amongst four members from a large kindred with the same homozygous CaSR mutations: one patient would have died without parathyroidectomy in infancy; a second patient survived infancy but underwent parathyroidectomy in early childhood following severe symptomatic hypercalcaemic episodes; whilst the other two patients have survived to adolescence without parathyroidectomy. Additionally, in contrast to the literature these two individuals suffered minimal morbidity. Conclusion: We commend the short-term use of pamidronate in neonatal severe hyperparathyroidism to treat extreme hypercalcaemia and halt hyperparathyroid-driven skeletal demineralisation in preparation for parathyroidectomy. The remarkable degree of phenotypic variation demonstrated remains unexplained without functional studies; this variability highlights the challenge of treating this rare condition.
- - - - - - - - - -
ranking = 1
keywords = dominant
(Clic here for more details about this article)

15/65. Primary hyperparathyroidism in the young age group: particularities of diagnostic and therapeutic schemes.

    Primary hyperparathyroidism (pHPT) is a rare endocrine disease in children and young adults. The widespread use of new developments in pHPT surgery (i.e., unilateral and minimally invasive approaches) is based on the assumption that the solitary adenoma is the predominant intraoperative finding, but it has not been evaluated in the subgroup of young patients. From April 1986 to December 2002, a total of 1219 patients with pHPT have been operated on in our institution. The records of 64 patients (5.3%) younger than 30 years were extracted and compared to those of the older patients. The study group (median age 25 years, range 11-30 years) had significantly less bone pain, fewer signs of bone demineralization, and fewer neuropsychiatric symptoms. Eleven patients had hereditary disease. We found a solitary adenoma in only 32 of the 64 juvenile patients (p < 0.001), multiple gland disease in 25 patients (p < 0.001), and two suspected carcinomas. No adenoma could be identified in five patients. Follow-up of 54 patients after a median of 6.1 years revealed 42 normocalcemic patients, 5 hypocalcemic patients, and 7 patients with hypercalcemia. Altogether, 16 juvenile patients underwent parathyroid reoperations (25%) compared to 105 older patients (9%) (p = 0.003). Problems and difficulties with parathyroid surgery are pronounced in younger patients. The high rate of multiple gland disease requires bilateral cervical exploration as the standard procedure in pHPT patients younger than 30 years of age.
- - - - - - - - - -
ranking = 1
keywords = dominant
(Clic here for more details about this article)

16/65. Mucolipidosis II presenting as severe neonatal hyperparathyroidism.

    Mucolipidosis II (ML II or I-cell disease ) (OMIM 252500) is an autosomal recessive lysosomal enzyme targeting disorder that usually presents between 6 and 12 months of age with a clinical phenotype resembling Hurler syndrome and a radiological picture of dysostosis multiplex. When ML II is severe enough to be detected in the newborn period, the radiological changes have been described as similar to hyperparathyroidism or rickets. The biological basis of these findings has not been explored and few biochemical measurements have been recorded. We describe three unrelated infants with ML II who had radiological features of intrauterine hyperparathyroidism and biochemical findings consistent with severe secondary neonatal hyperparathyroidism (marked elevation of serum parathyroid hormone and alkaline phosphatase levels). The vitamin D metabolites were not substantially different from normal and repeatedly normal calcium concentrations excluded vitamin d deficiency rickets and neonatal severe hyperparathyroidism secondary to calcium-sensing receptor gene mutations (OMIM 239200). The pathogenesis of severe hyperparathyroidism in the fetus and newborn with ML II is unexplained. We hypothesize that the enzyme targeting defect of ML II interferes with transplacental calcium transport leading to a calcium starved fetus and activation of the parathyroid response to maintain extracellular calcium concentrations within the normal range. CONCLUSION: Newborns with mucolipidosis II can present with radiological and biochemical signs of hyperparathyroidism. awareness of this phenomenon may help in avoiding diagnostic pitfalls and establishing a proper diagnosis and therapy.
- - - - - - - - - -
ranking = 3478.1988335701
keywords = rickets
(Clic here for more details about this article)

17/65. A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome.

    HRPT2, the gene associated with hyperparathyroidism-jaw tumor (HPT-JT) syndrome, was previously mapped to 1q24-q32. It was recently cloned, and several germline mutations were found to predispose to HPT-JT syndrome. We sequenced the complete HRPT2 coding sequence and splice-junctional regions in a Korean family with HPT-JT syndrome and identified a novel germline mutation, IVS2-1G>A in intron 2, that caused the autosomal dominant trait of HPT-JT syndrome in this family. RT-PCR and sequencing of the transcripts revealed that this splicing mutation generated alternative splicing errors leading to the formation of two different transcripts, one with exon 3 deleted, the other lacking the first 23 bp of exon 3 due to the use of an internal splice acceptor in exon 3. Translation of both transcripts results in premature termination. In addition, we detected two novel somatic mutations of HRPT2 in malignant parathyroid tumors from the affected individuals. One, 85delG, causes premature termination; the other, an 18 bp in-frame deletion of 13_30delCTTAGCGTCCTGCGACAG, suggests that this region may be important in the development of the parathyroid carcinomas in HPT-JT syndrome. These findings provide further evidence that mutation of HRPT2 is associated with the formation of parathyroid tumors in HPT-JT syndrome.
- - - - - - - - - -
ranking = 1
keywords = dominant
(Clic here for more details about this article)

18/65. Co-existence of X-linked hypophosphatemic rickets (XLH) and primary hyperparathyroidism: case report and review of the literature.

    X-linked hypophosphatemic rickets (XLH) is a dominant disorder characterized by hypophosphatemia due to impaired renal tubular reabsorption of inorganic phosphate. Cardinal manifestations include defective calcification of cartilage and bone, growth retardation and resistance to phosphorus and vitamin D therapy. Although secondary hyperparathyroidism (HPT) is a common complication of treatment, autonomous HPT is rare, especially in the absence of previous phosphate therapy. We report a case of an adult untreated male XLH patient with primary HPT and give a brief review of the literature regarding the prevalence and pathophysiology of this complication.
- - - - - - - - - -
ranking = 1002763.7890466
keywords = hypophosphatemic, hypophosphatemic rickets, rickets, dominant
(Clic here for more details about this article)

19/65. Intrathyroidal parathyroid adenoma.

    A 54-year-old woman was referred for imaging studies after presentation for palpitations and a palpable thyroid nodule. The patient underwent a dual-phase single-agent Tc-99m sestamibi scan followed later by a thyroid ultrasound at an outside hospital. The Tc-99m sestamibi scan showed a marked focus of activity separate from the thyroid bed in the inferior left neck. Thyroid ultrasound showed a dominant calcified nodule in the left lobe of the thyroid, measuring 1.3 cm, as well as 3-mm cystic lesions in both lobes of the thyroid. Also, an iodine-123 scan was performed showing a cold nodule in the left inferior thyroid. During surgery, the patient underwent a left thyroid lobectomy for an intrathyroidal parathyroid adenoma.
- - - - - - - - - -
ranking = 1
keywords = dominant
(Clic here for more details about this article)

20/65. Rickets-like radiological and biochemical features of neonatal mucolipidosis II (I-cell disease): report of two cases.

    In this paper, two cases with mucolipidosis type II (I-cell disease) (proven in one presenting newborn and presumed in an elder deceased brother) are presented. These infants showed severe skeletal changes with diffuse periosteal new bone formation in long bones and ribs, marked osteopenia, and resorption of scapula, clavicula, and mandible. There was also irregular demineralization of metaphyses of long tubular bones, as seen in rickets. The activities of serum alkaline phosphatase and parathyroid hormone were markedly elevated. phosphorus was decreased. serum 1,25-dihydroxyvitamin D was slightly elevated, but 25-hydroxyvitamin D and calcium were normal. Dysostosis multiplex resembling rickets and very high alkaline phosphatase activity were due to defective osteoblastic activity, but the mechanism of elevated parathyroid hormone was not clear. We conclude that early skeletal manifestation of mucolipidosis type II is not clearly identified and that differentiation from congenital rickets or congenital hyperparathyroidism could be difficult. It is speculated that hyperparathyroidism in these patients could be related to the calcium-sensing receptor malfunction in the parathyroid gland.
- - - - - - - - - -
ranking = 5217.2982503552
keywords = rickets
(Clic here for more details about this article)
<- Previous || Next ->


Leave a message about 'Hyperparathyroidism'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.