Cases reported "Hypercalcemia"

Filter by keywords:



Filtering documents. Please wait...

1/40. Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease.

    We describe a new familial metabolic bone disease characterized by expanding hyperostotic long bones, early onset deafness, premature tooth loss, and episodic hypercalcemia. The condition affects a mother and daughter studied at the age of 36 years and 11 years, respectively. Both individuals lost all hearing in early childhood and suffered premature shedding of teeth. Skeletal pains began just before puberty. Swelling and aching of most middle phalanges in the hands is an especially troublesome manifestation. The mother also had episodes of symptomatic hypercalcemia first documented in late childhood and subsequently during intercurrent illness and postpartum lactation. Radiographs show hyperostosis and/or osteosclerosis predominantly in the skull and appendicular skeleton. Long bones also are expanded considerably, especially the middle phalanges in the fingers. The mother's skeletal abnormalities are more severe. Biochemical parameters of bone turnover, including serum alkaline phosphatase (ALP) activity, are elevated substantially. In the proposita, dynamic histomorphometry of nondecalcified sections of iliac crest revealed rapid skeletal remodeling. In the mother, who had been treated with bisphosphonates, electron microscopy (EM) showed disorganized collagen bundles as well as necrotic and apoptotic bone cells but no osteocytic osteolysis. measles virus gene transcripts were not detected in peripheral blood monocytes. karyotyping was normal, 46,XX. Hyperphosphatasia with bone disease previously has been reported as either a sporadic or autosomal recessive condition. Expansile skeletal hyperphosphatasia (ESH) is probably inherited as an autosomal dominant trait with a high degree of penetrance.
- - - - - - - - - -
ranking = 1
keywords = dominant
(Clic here for more details about this article)

2/40. A novel mutation in the calcium-sensing receptor gene in a Chinese subject with persistent hypercalcemia and hypocalciuria.

    Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder characterized by high penetrance of relatively benign, lifelong persistent hypercalcemia and hypocalciuria. By contrast, neonatal severe hyperparathyroidism represents a life-threatening form of hypercalcemia that can cause the early newborn mortality if immediate intervention is not undertaken. Both disorders are due to inactivation mutation of the human calcium-sensing receptor (CaSR) gene on chromosome 3q21-24. Up to now, more than 30 mutations in the CaSR gene associated with FHH have been described. In this study, we analyzed one 79-yr-old male with hypocalciuric hypercalcemia without siblings or children to compare with an additional group of 50 normal Chinese subjects in taiwan. dna sequence analysis of the CaSR gene was performed. The result showed that the proband had a heterozygous nonsense mutation in exon 7 of the CaSR gene at codon 648 (CGA-->TGA/Arg-->Ter). This mutation, located in the COOH-terminal of the first intracellular loop of the CaSR, predicts a markedly truncated protein. We have identified a novel R648X mutation in the CaSR gene in one patient with FHH in taiwan
- - - - - - - - - -
ranking = 0.5
keywords = dominant
(Clic here for more details about this article)

3/40. Familial isolated parathyroid adenoma in a consanguineous family.

    The 23-year-old Caucasian male propositus presented with symptomatic hypercalcemia, hypophosphatemia and normocalciuria for 2 months. His 29-year-old brother had undergone an operation for recurrent parathyroid adenoma at age 26 and 28. No other member of the family was affected. His father and mother were second-degree relatives. Laboratory studies showed primary hyperparathyroidism (pHPT), while the remaining endocrine studies and genetic testing for multiple endocrine neoplasia 1 and 2A were normal. technetium-cardiolite scintigraphy and ultrasound scans revealed a parathyroid mass at the left lower neck. Apart from bilateral hearing loss due to gentamicin treatment as a pre-term child, the patient was in of good health. Signs or symptoms of other endocrinopathies were absent. The patient was referred for parathyroidectomy with subsequent autotransplantation of the remaining glands into his sternocleidomastoid muscle. Histological examination revealed an adenoma with oncocytic differentiation, similar to that seen in his brother. The disease may follow a recessive mode of inheritance or may be due to a dominant germ-cell mutation in one of the parents. The presented case may ultimately help in elucidating the molecular genetic basis of this rare form of pHPT.
- - - - - - - - - -
ranking = 0.5
keywords = dominant
(Clic here for more details about this article)

4/40. Tertiary hyperparathyroidism after high-dose phosphate therapy in adult-onset hypophosphatemic osteomalacia.

    OBJECTIVE: To describe a case of adult-onset hypophosphatemic osteomalacia treated with orally administered phosphate and complicated by tertiary hyperparathyroidism. methods: We present pertinent clinical, radiologic, and laboratory details of the study patient for a period of more than 20 years and discuss the few reported cases of tertiary hyperparathyroidism attributable to prolonged phosphate therapy. RESULTS: A 49-year-old Jordanian man, who had been diagnosed at age 26 years as having sporadic adult-onset hypophosphatemic vitamin d-resistant osteomalacia, presented with severe right hip pain, severe osteopenia with lytic bone lesions, and hypercalcemia after prolonged oral treatment with phosphate and vitamin d. These clinical, radiologic, and biochemical findings, in conjunction with a very high serum parathyroid hormone level, indicated the diagnosis of tertiary hyperparathyroidism, which was substantiated histopathologically. CONCLUSION: physicians should be aware of the potential for development of tertiary hyperparathyroidism in patients receiving prolonged oral phosphate therapy.
- - - - - - - - - -
ranking = 43934.351051742
keywords = hypophosphatemic
(Clic here for more details about this article)

5/40. 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 = 0.5
keywords = dominant
(Clic here for more details about this article)

6/40. pregnancy-associated osteoporosis with hypercalcaemia.

    pregnancy-associated osteoporosis is an uncommon condition. It predominantly affects thinly built, primigravid, lactating women. These patients can sustain vertebral fractures with minimal or no trauma, resulting in significant morbidity. The association with hypercalcaemia is rare and typically occurs during the first few months postpartum, while lactating. This condition is, however, relatively benign and patients can expect to return to normal bone mineral density 6-12 months after breast-feeding has stopped.
- - - - - - - - - -
ranking = 0.5
keywords = dominant
(Clic here for more details about this article)

7/40. Transitional cell carcinoma of the renal pelvis associated with hypercalcemia in a patient with autosomal dominant polycystic kidney disease.

    We present a case of transitional cell carcinoma (TCC) of the renal pelvis in a patient with autosomal dominant polycystic kidney disease (ADPKD) who presented with hypercalcemia. hypercalcemia is rare in TCC and has not been independently associated with ADPKD. Preoperative magnetic resonance imaging findings suggested a diagnosis of TCC. The patient underwent left nephroureterectomy, which confirmed the diagnosis, and received adjuvant chemotherapy. The hypercalcemia had not recurred, and she was without evidence of disease recurrence at 36 months. This case is unique in that we did not find any previously reported cases of TCC associated with ADPKD and hypercalcemia.
- - - - - - - - - -
ranking = 2.5
keywords = dominant
(Clic here for more details about this article)

8/40. 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 = 0.5
keywords = dominant
(Clic here for more details about this article)

9/40. Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia.

    BACKGROUND: Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder characterized by asymptomatic and non-progressive hypercalcemia resulting from loss-of-function mutations of the CASR (calcium-sensing receptor) gene located on chromosome 3, or from mutations in two mapped but unidentified genes located on chromosome 19. methods: We report a middle-aged woman incidentally found to have FHH. To determine the molecular basis of FHH in this Chinese family, we performed direct dna sequencing of the CASR gene of the proband. RESULTS: We found that the proband is heterozygous for a novel missense mutation P798T, confirming the diagnosis of FHH. family screening showed that all of the offspring with biochemical features of FHH have the P798T mutation. The mutation, P798T, is located in the third intracellular loop of the CASR, possibly affecting the downstream calcium sensing pathway and therefore inactivating the receptor function. CONCLUSIONS: The molecular basis of FHH in a Chinese family was established. The developed mutation detection assay provides a reliable method for identifying FHH carriers.
- - - - - - - - - -
ranking = 0.5
keywords = dominant
(Clic here for more details about this article)

10/40. Posterior reversible encephalopathic syndrome due to severe hypercalcemia in AIDS.

    A reversible syndrome of headache, altered mental status, seizures and cerebral visual abnormalities with neuroradiological studies suggesting predominantly posterior white matter abnormalities has been described. This syndrome has been referred to as posterior reversible encephalopathic syndrome (PRES). PRES has been associated with hypertensive encephalopathy, eclampsia and treatment with immunosuppressive or cytotoxic agents. Rare case reports describe association with hypercalcemia. We present a patient with AIDS, mycobacterium avium intracellulare related hypercalcemia with posterior reversible encephalopathic syndrome.
- - - - - - - - - -
ranking = 0.5
keywords = dominant
(Clic here for more details about this article)
| Next ->


Leave a message about 'Hypercalcemia'


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