Diagnosis and Treatment > Investigation > Parathyroid scintigraphy
You are looking at 1 - 4 of 4 items
Autonomous University of Barcelona, Barcelona, Spain
Search for other papers by E Mogas in
Google Scholar
PubMed
Autonomous University of Barcelona, Barcelona, Spain
Search for other papers by A Campos-Martorell in
Google Scholar
PubMed
Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
Search for other papers by M Clemente in
Google Scholar
PubMed
Endocrinology and Diabetes Research Group, BioCruces Health Research Institute, UPV-EHU, CIBERDEM, Cruces University Hospital, Barakaldo, Spain
Search for other papers by L Castaño in
Google Scholar
PubMed
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
Department of Pediatrics, Children’s University Hospital Vall Hebron, Barcelona, Spain
Search for other papers by A Moreno-Galdó in
Google Scholar
PubMed
Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
Search for other papers by D Yeste in
Google Scholar
PubMed
Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
Search for other papers by A Carrascosa in
Google Scholar
PubMed
Summary
Two pediatric patients with different causes of hyperparathyroidism are reported. First patient is a 13-year-old male with severe hypercalcemia due to left upper parathyroid gland adenoma. After successful surgery, calcium and phosphate levels normalized, but parathormone levels remained elevated. Further studies revealed a second adenoma in the right gland. The second patient is a 13-year-old female with uncommon hypercalcemia symptoms. Presence of pathogenic calcium-sensing receptor gene (CASR) mutation was found, resulting in diagnosis of symptomatic familial hypocalciuric hypercalcemia. Cinacalcet, a calcium-sensing agent that increases the sensitivity of the CASR, was used in both patients with successful results.
Learning points:
-
Hyperparathyroidism is a rare condition in pediatric patients. If not treated, it can cause serious morbidity.
-
Genetic tests searching for CASR or MEN1 gene mutations in pediatric patients with primary hyperparathyroidism should be performed.
-
Cinacalcet has been effective for treating different causes of hyperparathyroidism in our two pediatric patients.
-
Treatment has been well tolerated and no side effects have been detected.
Search for other papers by Marta Araujo Castro in
Google Scholar
PubMed
Search for other papers by Ainhoa Abad López in
Google Scholar
PubMed
Search for other papers by Luz Martín Fragueiro in
Google Scholar
PubMed
Search for other papers by Nuria Palacios García in
Google Scholar
PubMed
Summary
The 85% of cases of primary hyperparathyroidism (PHPT) are due to parathyroid adenomas (PA) and less than 1% to parathyroid carcinomas (PC). The PA usually measure <2 cm, weigh <1 g and generate a mild PHPT, whereas the PC usually exceeds these dimensions and are associated with a severe PHPT. However, giant PA (GPA), which is defined as those larger than 3 g, has been documented. Those may be associated with very high levels of PTH and calcium. In these cases, their differentiation before and after surgery with PC is very difficult. We present a case of severe PHPT associated with a large parathyroid lesion, and we discuss the differential aspects between the GPA and PC.
Learning points:
-
In parathyroid lesions larger than 2 cm, the differential diagnosis between GPA and PC should be considered.
-
Pre and postsurgical differentiation between GPA and PC is difficult; however, there are clinical, analytical and radiographic characteristics that may be useful.
-
The depth/width ratio larger or smaller than 1 seems to be the most discriminatory ultrasound parameter for the differential diagnosis.
-
Loss of staining for parafibromin has a specificity of 99% for the diagnosis of PC.
-
The simultaneous presence of several histological characteristics, according to the classification of Schantz and Castleman, is frequent in PC and rare in GPA.
Search for other papers by Nobuhiro Miyamura in
Google Scholar
PubMed
Search for other papers by Shuhei Nishida in
Google Scholar
PubMed
Search for other papers by Mina Itasaka in
Google Scholar
PubMed
Search for other papers by Hirofumi Matsuda in
Google Scholar
PubMed
Search for other papers by Takeshi Ohtou in
Google Scholar
PubMed
Search for other papers by Yasuhiro Yamaguchi in
Google Scholar
PubMed
Search for other papers by Daisuke Inaba in
Google Scholar
PubMed
Search for other papers by Sadahiro Tamiya in
Google Scholar
PubMed
Search for other papers by Tetsuo Nakano in
Google Scholar
PubMed
Summary
Hepatitis C-associated osteosclerosis (HCAO), a very rare disorder in which an extremely rapid bone turnover occurs and results in osteosclerosis, was acknowledged in 1990s as a new clinical entity with the unique bone disorder and definite link to chronic type C hepatitis, although the pathogenesis still remains unknown. Affected patients suffer from excruciating deep bone pains. We report the 19th case of HCAO with diagnosis confirmed by bone biopsy, and treated initially with a bisphosphonate, next with corticosteroids and finally with direct acting antivirals (DAA: sofosbuvir and ribavirin) for HCV infection. Risedronate, 17.5 mg/day for 38 days, did not improve the patient’s symptoms or extremely elevated levels of bone markers, which indicated hyper-bone-formation and coexisting hyper-bone-resorption in the patient. Next, intravenous methylprednisolone pulse therapy followed by high-dose oral administration of prednisolone evidently improved them. DAA therapy initiated after steroid therapy successfully achieved sustained virological response, but no additional therapeutic effect on them was observed. Our results strongly suggested that the underlying immunological alteration is the crucial key to clarify the pathogenesis of HCAO. Bone mineral density of lumbar vertebrae of the patient was increased by 14% in four-month period of observation. Clarification of the mechanisms that develop osteosclerosis in HCAO might lead to a new therapeutic perspective for osteoporosis.
Learning points:
-
HCAO is an extremely rare bone disorder, which occurs exclusively in patients affected with HCV, of which only 18 cases have been reported since 1992 and pathogenesis still remains unclear.
-
Pathophysiology of HCAO is highly accelerated rates of both bone formation and bone resorption, with higher rate of formation than that of resorption, which occur in general skeletal leading to the diffuse osteosclerosis with severe bone pains.
-
Steroid therapy including intravenous pulse administration in our patient evidently ameliorated his bone pains and reduced elevated values of bone markers. This was the first successful treatment for HCAO among cases reported so far and seemed to propose a key to solve the question for its pathogenesis.
-
The speed of increase in the bone mineral content of the patient was very high, suggesting that clarification of the mechanism(s) might lead to the development of a novel therapy for osteoporosis.
Search for other papers by Maria P Yavropoulou in
Google Scholar
PubMed
Search for other papers by Nikolina Gerothanasi in
Google Scholar
PubMed
Search for other papers by Athanasios Frydas in
Google Scholar
PubMed
Search for other papers by Evangelia Triantafyllou in
Google Scholar
PubMed
Search for other papers by Chris Poulios in
Google Scholar
PubMed
Search for other papers by Prodromos Hytiroglou in
Google Scholar
PubMed
Search for other papers by Panagiotis Apostolou in
Google Scholar
PubMed
Search for other papers by Ioannis Papasotiriou in
Google Scholar
PubMed
Search for other papers by Symeon Tournis in
Google Scholar
PubMed
Search for other papers by Isaak Kesisoglou in
Google Scholar
PubMed
Search for other papers by John G Yovos in
Google Scholar
PubMed
Summary
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused primarily by benign mesenchymal tumors. These tumors typically follow a benign clinical course and local recurrence occurs in <5% of cases. We investigated a 49-year-old man with a recurrent mesenchymal phosphaturic tumor showing no signs of malignancy. The patient suffered from chronic muscle weakness, myalgia and cramps. His medical record included the diagnosis of oncogenic osteomalacia, for which he was submitted to tumor resection in the left leg three times before. Laboratory examination showed hypophosphatemia, hyperphosphaturia and an elevated serum FGF23 level. A radical surgical approach (amputation) was advised, however, complete biochemical and clinical remission was not reached. Molecular analysis of the tumor cells demonstrated overexpression of growth factor receptors implicated in tumor angiogenesis and metastatic potential (platelet derived growth factor type A (PDGFRA), PDGFRB and vascular endothelial growth factor receptor) together with increased expression of FGF23, x-linked-phosphate-regulating endopeptidase and KLOTHO. TIO is usually associated with benign phosphauturic tumors and, when identified, resection of the tumor leads to complete remission in the majority of cases. The underlying pathophysiology of recurrences in these tumors is not known. This is the first report showing increased expression of growth factor receptors in a locally aggressive but histopathologically benign phosphaturic mesenchymal tumor.
Learning points
-
TIO is usually associated with benign soft tissue or bone neoplasms of mesenchymal origin.
-
These tumors typically follow a benign clinical course and even in the rare malignant cases local recurrence occurs in <5%.
-
Successful identification and removal of the tumor leads to full recovery in the majority of cases.
