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2.
Rev. baiana saúde pública ; 45(3,supl.n.esp): 108-117, 28 dec. 2021.
Article in Portuguese | LILACS | ID: biblio-1352339

ABSTRACT

As neoplasias endócrinas múltiplas (NEM) são síndromes genéticas autossômicas dominantes implicadas no desenvolvimento de neoplasias benignas ou malignas, envolvendo ao menos duas glândulas endócrinas. Entre seus subtipos, está a NEM2A, que consiste em carcinoma medular de tireoide (CMT), feocromocitoma e hiperparatireoidismo. Este texto apresente o relato de caso de um paciente de 40 anos, previamente hígido, que passou a apresentar episódios de cefaleia associada a sudorese profusa, vômitos e taquicardia. Evoluiu com distensão abdominal intensa após alimentação por via oral, perda ponderal, desnutrição, astenia, obstipação, humor deprimido e picos pressóricos. Exames laboratoriais evidenciaram alterações dos hormônios tireoidianos, PTH e hormônios da adrenal. Foi levantada a suspeita clínica de NEM2A, posteriormente corroborada pelos diagnósticos anatomopatológicos de feocromocitoma e CMT, associados à presença de hiperparatireoidismo. Foi possível concluir que, a despeito de sua baixa prevalência na população geral, a NEM é uma síndrome clínica de grande relevância, tendo em vista os impactos para os pacientes e famílias acometidas. Dessa forma, é necessário que os profissionais de saúde tenham conhecimento acerca da síndrome e que o Sistema Único de Saúde (SUS) esteja apto a assistir aos pacientes portadores de NEM, possibilitando diagnóstico precoce e tratamento adequado.


Multiple endocrine neoplasias (MEN) are dominant autosomal genetic syndromes involved in the development of benign or malignant tumors in at least two endocrine glands. MEN2A is one of its subtypes, which consists of medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism. This study reports the case of a healthy 40-year-old male patient presenting with episodes of headache associated with profuse sweating, vomiting, and tachycardia. The patient evolved with severe abdominal distension after oral feeding, weight loss, malnutrition, asthenia, constipation, depressed mood, and pressure peaks. Laboratory tests showed abnormalities in thyroid, parathyroid (PTH), and adrenal hormones ­ thus raising the hypothesis of MEN2A, which was later corroborated by the histological diagnosis of pheochromocytoma and MTC, associated with hyperparathyroidism. The results indicate that, despite its low prevalence in the general population, MEN has a great impact on affected patients and families, thus being a relevant clinical syndrome. For enabling early diagnosis and adequate treatment, health professionals must be familiarized with such a condition, and the Brazilian Unified Health System (SUS) must be able to assist affected patients.


Las neoplasias endocrinas múltiples (NEM) son síndromes genéticos autosómicos dominantes involucrados en el desarrollo de neoplasias benignas o malignas, que afectan al menos dos glándulas endocrinas. Entre sus subtipos se encuentra NEM2A, que consiste en carcinoma medular de tiroides (CMT), feocromocitoma e hiperparatiroidismo. Este es un reporte de caso de un paciente de 40 años de edad, previamente sano, que comenzó a presentar episodios de cefalea asociada a sudoración profusa, vómitos y taquicardia. Evolucionó con distensión abdominal severa después de alimentarse, pérdida de peso, desnutrición, astenia, estreñimiento, estado de ánimo deprimido y picos de presión. Las pruebas de laboratorio mostraron alteraciones en las hormonas tiroideas, PTH y hormonas suprarrenales. Se planteó la hipótesis de MEN2A, posteriormente corroborada por el diagnóstico anatomopatológico de feocromocitoma y CMT, asociado a hiperparatiroidismo. Se pudo concluir que, a pesar de su baja prevalencia en la población general, el NEM es un síndrome clínico de gran relevancia, dado el impacto que tiene en los pacientes y familiares afectados. Por tanto, es necesario que los profesionales sanitarios tengan conocimiento sobre el síndrome y que el Sistema Único de Salud (SUS) sea capaz de asistir a los pacientes con NEM, posibilitándoles diagnóstico precoz y tratamiento adecuado.


Subject(s)
Humans , Pheochromocytoma , Multiple Endocrine Neoplasia , Thyroid Neoplasms , Carcinoma, Medullary , Endocrine Glands , Hyperparathyroidism
4.
Braz. j. med. biol. res ; 54(6): e10558, 2021. tab
Article in English | LILACS | ID: biblio-1249309

ABSTRACT

Hypercalcemia is common in patients after kidney transplantation (KTx) and is associated with persistent hyperparathyroidism in the majority of cases. This retrospective, single-center study evaluated the prevalence of hypercalcemia after KTx. KTx recipients were evaluated for 7 years after receiving kidneys from living or deceased donors. A total of 301 patients were evaluated; 67 patients had hypercalcemia at some point during the follow-up period. The median follow-up time for all 67 patients was 62 months (44; 80). Overall, 45 cases of hypercalcemia were classified as related to persistent post-transplant hyperparathyroidism (group A), 16 were classified as "transient post-transplant hypercalcemia" (group B), and 3 had causes secondary to other diseases (1 related to tuberculosis, 1 related to histoplasmosis, and 1 related to lymphoma). The other 3 patients had hypercalcemia of unknown etiology, which is still under investigation. In group A, the onset of hypercalcemia after KTx was not significantly different from that of the other groups, but the median duration of hypercalcemia in group A was 25 months (12.5; 53), longer than in group B, where the median duration of hypercalcemia was only 12 months (10; 15) (P<0.002). The median parathyroid hormone blood levels around 12 months after KTx were 210 pg/mL (141; 352) in group A and 72.5 pg/mL (54; 95) in group B (P<0.0001). Hypercalcemia post-KTx is not infrequent and its prevalence in this center was 22.2%. Persistent hyperparathyroidism was the most frequent cause, but other important etiologies must not be forgotten, especially granulomatous diseases and malignancies.


Subject(s)
Humans , Kidney Transplantation/adverse effects , Hypercalcemia/etiology , Hypercalcemia/epidemiology , Hyperparathyroidism , Parathyroid Hormone , Calcium , Retrospective Studies , Kidney
5.
Rev. colomb. nefrol. (En línea) ; 7(1): 121-129, ene.-jun. 2020. tab, graf
Article in Spanish | LILACS, COLNAL | ID: biblio-1144379

ABSTRACT

Resumen El magnesio sérico es el "ion olvidado" en la práctica médica: la mayoría de veces no se tiene en cuenta en los estudios clínicos, sus alteraciones tienden a ser ignoradas y su aproximación terapéutica no está definida de forma adecuada. La sintomatologia producto de la hipomagnesemia es inespecífica y su aproximación diagnostica es compleja. Se presenta el caso de una paciente con hipomagnesemia sintomática severa asociada a daño renal por hipercalcemia durante la gestación.


Abstract Serum magnesium is the «forgotten ion¼ in medical practice. Most of the time it is not taken into account in clinical studies, its alterations tend to be ignored and its therapeutic approach is not well defined. The symptomatology produced by hypomagnesemia is nonspecific and its diagnostic approach is complex. We present the case of a pregnant patient with symptomatic hypomagnesemia secondary to renal damage due to hypercalcemia.


Subject(s)
Humans , Female , Pregnancy , Kidney Diseases , Patients , Pregnancy , Colombia , Hypercalcemia , Hyperparathyroidism , Magnesium
6.
Medicina (B.Aires) ; 80(1): 39-47, feb. 2020. ilus, tab
Article in Spanish | LILACS | ID: biblio-1125036

ABSTRACT

El tejido paratiroideo ectópico es una causa frecuente de recurrencia del hiperparatiroidismo (HPT) siendo de 16% en primarios y 14% en secundarios. La localización intratorácica representa el 20-35%, pero solo un 2% requiere una cirugía torácica. El objetivo fue analizar una cohorte de pacientes con diagnóstico de HPT mediastinal operados en un hospital de alta complejidad de Argentina. Se realizó un estudio retrospectivo de todos los operados por HPT entre enero de 2006 y julio 2019 en ese hospital. Se incluyeron aquellos que requirieron acceso torácico por HPT ectópico. En este período se trataron 728 pacientes con HPT primario y secundario. Seis con primario y 3 con secundario requirieron cirugía torácica. Se realizaron 6 videotoracoscopias (VATS) y 3 esternotomías, sin complicaciones graves. Se utilizó biopsia por congelación en todos y dosaje de paratohormona intraoperatoria (PTHi) en 8 casos, que descendió en promedio 65% respecto al valor basal. Se confirmaron 5 adenomas y 4 hiperplasias. La enfermedad paratiroi dea mediastinal representó el 1.65% (12/728), mientras que recibieron tratamiento quirúrgico en nuestra institución 1.24% (9/728). La biopsia por congelación y el descenso de PTHi resultan útiles para confirmar el foco y eventualmente disminuir el riesgo de recurrencia. La VATS es segura pero depende del entrenamiento y de la disponibilidad en el medio asistencial. Si bien el sestamibi es el método con mayor sensibilidad, se propone el uso de 18F-colina PET/TC ante la sospecha de HPT ectópico. La posibilidad de obtener conclusiones basadas en la evidencia requiere de estudios con mayor número de pacientes.


The ectopic parathyroid tissue is a frequent cause of recurrent hyperparathyroidism (HPT), accounting 16% in primary HPT and 14% in secondary cases. Although intrathoracic ectopic glands represent 25-35% of all ectopic cases, only 2% requires thoracic surgery. The aim of this study is to report a case series of patients with ectopic mediastinal HPT treated by thoracic approach in a private institution in Argentina. This is a retrospective analysis from January 2006 to June 2019. All patients diagnosed with ectopic hyperparathyroidism who required a thoracic surgical approach were included. During this period, 728 patients with primary HPT and secondary HPT were treated. Six with primary HPT and 3 with secondary HPT required a thoracic approach. Six video-assisted thoracoscopy surgeries (VATS) and 3 sternotomies were performed. None of them presented serious posoperative complications. Frozen section biopsy was used in all cases. iPTH was measured in 8 cases, with a mean drop of 65% after 15 minutes. Final pathology reports confirmed 5 adenomas and 4 hyperplasias. Our case series reported an incidence of 1.65% (12/728) mediastinal parathyroids, while 1.24% (9/728) received surgical treatment at our institution. Intraoperative frozen section and PTHi are useful to confirm the diagnosis and to avoid recurrences. Although VATS is a safe and efficient treatment option, it depends on surgical training and availability. In terms of diagnostic imaging resources, sestamibi remains the current gold standard. However, 18F-choline PET/CT may arise as a new diagnostic tool. The possibility of obtaining evidence-based conclusions requires studies with higher number of patients.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Aged, 80 and over , Young Adult , Parathyroid Glands/pathology , Hyperparathyroidism/pathology , Argentina/epidemiology , Recurrence , Biopsy , Retrospective Studies , Sex Distribution , Age Distribution , Positron Emission Tomography Computed Tomography , Hyperparathyroidism/therapy , Hyperparathyroidism/epidemiology
7.
Article in English | WPRIM | ID: wpr-816628

ABSTRACT

Since parathyroid hormone (PTH) was first isolated and its gene (PTH) was sequenced, only eight PTH mutations have been discovered. The C18R mutation in PTH, discovered in 1990, was the first to be reported. This autosomal dominant mutation induces endoplasmic reticulum stress and subsequent apoptosis in parathyroid cells. The next mutation, which was reported in 1992, is associated with exon skipping. The substitution of G with C in the first nucleotide of the second intron results in the exclusion of the second exon; since this exon includes the initiation codon, translation initiation is prevented. An S23P mutation and an S23X mutation at the same residue were reported in 1999 and 2012, respectively. Both mutations resulted in hypoparathyroidism. In 2008, a somatic R83X mutation was detected in a parathyroid adenoma tissue sample collected from a patient with hyperparathyroidism. In 2013, a heterozygous p.Met1_Asp6del mutation was incidentally discovered in a case-control study. Two years later, the R56C mutation was reported; this is the only reported hypoparathyroidism-causing mutation in the mature bioactive part of PTH. In 2017, another heterozygous mutation, M14K, was detected. The discovery of these eight mutations in the PTH gene has provided insights into its function and broadened our understanding of the molecular mechanisms underlying mutation progression. Further attempts to detect other such mutations will help elucidate the functions of PTH in a more sophisticated manner.


Subject(s)
Apoptosis , Case-Control Studies , Codon, Initiator , Endoplasmic Reticulum Stress , Exons , Humans , Hyperparathyroidism , Hypoparathyroidism , Introns , Parathyroid Diseases , Parathyroid Glands , Parathyroid Hormone , Parathyroid Neoplasms
8.
Article in English | WPRIM | ID: wpr-785429

ABSTRACT

PURPOSE: Patients with secondary hyperparathyroidism are at high risk for developing postoperative hypocalcemia. However, there are limited data regarding predictors of postoperative hypocalcemia in renal failure patient with secondary hyperparathyroidism. This study aimed to determine the clinical presentations of renal hyperparathyroidism and the predictors of early postoperative hypocalcemia after total parathyroidectomy.METHODS: Data of patients with renal hyperparathyroidism who underwent total parathyroidectomy between January 2007 to December 2014 were reviewed retrospectively. Patients were divided into 2 cohort groups according to their serum calcium levels within 24 hours of parathyroidectomy: the hypocalcemia group (calcium levels of 2 mmol/L or less), and the normocalcemia group (calcium levels more than 2 mmol/L). With the use of multivariable logistic regression analyses, the predictors of early postoperative hypocalcemia after total parathyroidectomy in patients with renal hyperparathyroidism were investigated.RESULTS: Among 68 patients, 56 patients (82.4%) were symptomatic preoperatively. Fifty patients (73.5%) presented with bone pain and 14 patients (20.6%) had muscle weakness. Early postoperative hypocalcemia occurred in 25 patients (36.8%). Preoperative alkaline phosphatase level was the predictor of early postoperative hypocalcemia (adjusted odds ratio, 1.004; 95% confidence interval, 1.001–1.006; P = 0.002).CONCLUSION: Results from our study show that most of the patients with renal hyperparathyroidism were symptomatic preoperatively and the most common clinical presentations were bone pain and muscle weakness. The significant predictor of early postoperative hypocalcemia after total parathyroidectomy was the preoperative alkaline phosphatase levels.


Subject(s)
Alkaline Phosphatase , Calcium , Cohort Studies , Humans , Hyperparathyroidism , Hyperparathyroidism, Secondary , Hypocalcemia , Logistic Models , Muscle Weakness , Odds Ratio , Parathyroid Hormone , Parathyroidectomy , Renal Insufficiency , Retrospective Studies
10.
Article in Chinese | WPRIM | ID: wpr-879477

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child with neonatal severe hyperparathyroidism.@*METHODS@#Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Whole exome sequencing was carried out to screen potential mutations. Suspected mutation was verified by Sanger sequencing.@*RESULTS@#The proband was found to carry compound heterozygous variants c.179G>A (p.Cys60Tyr) and c.1525G>A (p.Gly509Arg) of the CaSR gene. The c.179G>A variant was derived from her mother and was unreported previously. The c.1525G>A variant was derived from her father and known to be pathogenic.@*CONCLUSION@#The compound heterozygous variants of c.179G>A and c.1525G>A of the CaSR gene probably underlie the disease in the patient. The results of genetic testing has enabled diagnosis and genetic counseling for her family.


Subject(s)
Female , Genetic Counseling , Genetic Testing , Humans , Hyperparathyroidism/genetics , Infant, Newborn , Infant, Newborn, Diseases/genetics , Mutation , Pedigree , Receptors, Calcium-Sensing/genetics , Whole Exome Sequencing
11.
Einstein (Säo Paulo) ; 18: eRC4819, 2020.
Article in English | LILACS | ID: biblio-1056060

ABSTRACT

ABSTRACT We describe a patient with tertiary hyperparathyroidism with history of three episodes of deep vein thrombosis and on rivaroxaban. The patient underwent a subtotal parathyroidectomy, developing cervical hematoma with airway compression. Therefore, emergency surgical decompression was necessary. Later, on the ninth postoperative day, the serum ionized calcium levels were low. Medical team knowledge about preexisting diseases and their implication in the coagulation state are essential conditions to reduce morbidity and mortality of surgeries. However, no reports were found in literature about the association of hypocalcemia with the use of the new class of anticoagulants, which act as factor X inhibitors (Stuart-Prower factor), predisposing to increased bleeding in the immediate postoperative period.


RESUMO Descrevemos um paciente com hiperparatireoidismo terciário com história de três episódios de trombose venosa profunda e em uso de rivaroxabana. O paciente foi submetido a uma paratireoidectomia subtotal, desenvolvendo hematoma cervical com compressão das vias aéreas. Foi necessária descompressão cirúrgica de emergência. No nono dia de pós-operatório, os níveis séricos de cálcio iônico estavam baixos. O conhecimento da equipe médica sobre doenças preexistentes e de sua implicação no estado de coagulação é condição indispensável para a redução da morbimortalidade do procedimento cirúrgico. No entanto, não há relatos na literatura associando hipocalcemia com o uso da nova classe de anticoagulantes que atuam como inibidores do fator X (fator de Stuart-Prower), predispondo ao aumento do sangramento no pós-operatório imediato.


Subject(s)
Humans , Male , Blood Coagulation Disorders/drug therapy , Factor Xa Inhibitors/adverse effects , Rivaroxaban/adverse effects , Hypocalcemia/chemically induced , Calcium/blood , Risk Factors , Parathyroidectomy/adverse effects , Parathyroidectomy/methods , Renal Insufficiency, Chronic/complications , Hyperparathyroidism/surgery , Hyperparathyroidism/etiology , Hypocalcemia/surgery , Middle Aged
12.
Rev. bras. ciênc. saúde ; 24(1): 63-70, 2020. tab
Article in Portuguese | LILACS | ID: biblio-1087533

ABSTRACT

Objetivo: Avaliar o perfil clínico e bioquímico de pacientes com e sem HPTS. Metodologia:Estudo transversal e analítico realizado com 93 pacientes com DRC em HD. Os pacientes foram alocados em dois grupos: sem HPTS (Paratormônio: < 300pg/mL) e com HPTS (Paratormônio: ≥ 300pg/mL). Foram verificados os dados socioeconômicos por meio de questioná-rio semiestruturado. Os dados bioquímicos e antropométricos foram obtidos por meio do prontuário de cada paciente. Tam-bém foram coletadas informações quanto ao tempo de HD, tabagismo, diabetes mellitus, hipertensão arterial sistêmica, cardiopatias, atividade física e a razão triglicerídeo/HDL-Coles-terol. Resultados:O gênero feminino apresentou-se prevalente no grupo com HPTS (59,09%, p=0,017). Nos pacientes que não apresentavam HPTS foi detectado maior presença de diabetes mellitus (77,27%, p=0,021). Os pacientes com HPTS diferiram dos pacientes sem HPTS para o hematócrito (p=0,0457), crea-tinina (p=0,0303) e a fosfatase alcalina (p=0,0011). Conclusão:Encontramos diferença ao comparar os grupos quanto aos níveis de hematócrito, creatinina, fósforo e fosfatase alcalina, resultados que podem implicar no estado clínico de indivíduos com HPTS. Essas análises poderão direcionar condutas e estratégias específicas para o acompanhamento da doença e proposta adequada de tratamento, buscando a melhora do quadro clínico e qualidade de vida. (AU)


Objective: To evaluate the clinical and biochemical profile of patients with and without secondary hyperparathyroidism. Methodology: Cross-sectional and analytical study conducted with 93 patients with CKD in HD. The patients were allocated into two groups: without HPTS (Parathyroid hormone: <300pg / mL) and with HPTS (Parathyroid hormone: ≥ 300pg / mL). Socioeconomic data were verified through a semi-structured questionnaire. Biochemical and anthropometric data were obtained from each patient's medical record. Information was also collected regarding HD time, smoking, diabetes mellitus, systemic arterial hypertension, heart disease, physical activity and the triglyceride / HDL-cholesterol ratio. Results: The female gender was prevalent in the group with HPTS (59.09%, p = 0.017). In patients without HPTS, a higher presence of diabetes mellitus was detected (77.27%, p = 0.021). Patients with HPTS differed from patients without HPTS for hematocrit (p = 0.0457), creatinine (p = 0.0303) and alkaline phosphatase (p = 0.0011). Conclusion: We found a difference when comparing the groups regarding hematocrit, creatinine, phosphorus and alkaline phosphatase levels. Results that may imply the clinical status of individuals with HPTS. These analysis may direct specific conducts and strategies for the follow-up of the disease and appropriate treatment proposal, seeking to improve the clinical condition and quality of life. (AU)


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Renal Dialysis , Hyperparathyroidism , Renal Insufficiency, Chronic
14.
Rev. Ciênc. Méd. Biol. (Impr.) ; 18(3): 408-410, dez 20, 2019. fig
Article in Portuguese | LILACS | ID: biblio-1359262

ABSTRACT

Introdução: a prevalência de doenças endócrino-metabólicas, como, por exemplo, o hiperparatireoidismo, tem crescido com a melhoria da expectativa de vida da população e pode levar a alterações no sistema estomatognático. Objetivo: relatar um caso clínico de um paciente com diagnóstico de tumor marrom associado ao hiperparatireoidismo. Metodologia: a metodologia adotada neste artigo foi o relato de caso, através da revisão de prontuário de um paciente atendido no ambulatório da disciplina de Estomatologia II na Faculdade de Odontologia da Universidade Federal da Bahia. Resultados: Clinicamente, observou-se um aumento de volume da hemiface esquerda e, radiograficamente, pôde-se observar imagem radiopaca envolvendo processo alveolar e seio maxilar esquerdo. Além disso, os exames laboratoriais mostraram elevados níveis do hormônio paratireoidiano. Conclusão: as características clínicas, radiológicas e histológicas das lesões de tumor marrom devem ser analisadas junto à condição sistêmica do indivíduo, a fim de propiciar correto diagnóstico e intervenção precisa.


Introduction: the prevalence of endocrine-metabolic diseases, such as hyperparathyroidism, has increased with the improvement in life expectancy of the population and may lead to changes in the stomatognathic system.Objective: to report a clinical case of a patient diagnosed with brown tumor associated with hyperparathyroidism. Methodology: methodology adopted in this article was the case report, through the review of the medical records of a patient treated at the outpatient clinic of Stomatology II at the School of Dentistry of the Federal University of Bahia. Results: clinically, an enlarged left hemiface was observed, and radiographically, a radiopaque image involving the alveolar process and left maxillary sinus could be observed. In addition, laboratory tests showed high levels of parathyroid hormone. Conclusion: clinical, radiological and histological characteristics of brown tumor lesions should be analyzed with the individual's systemic condition, in order to provide correct diagnosis and precise intervention.


Subject(s)
Humans , Female , Adult , Giant Cells , Oral Health , Hyperparathyroidism , Radiography, Panoramic , Tomography, X-Ray Computed , Medical Records
15.
Arch. endocrinol. metab. (Online) ; 63(2): 182-185, Mar.-Apr. 2019. tab
Article in English | LILACS | ID: biblio-1038494

ABSTRACT

ABSTRACT Objective: To define serum parathyroid hormone (PTH) reference values in carefully selected subjects following the recommended pre-analytical guidelines. Subjects and methods: First, 676 adults who would be submitted to thyroidectomy were evaluated. Patients using interfering medications or with malabsorption syndrome, hypomagnesemia, hyper- or hypophosphatemia, hypo- or hypercalcemia, 25-hydroxyvitamin D < 30 ng/dL, estimated glomerular filtration rate < 60 mL/min/1.73 m2, urinary calcium/creatinine ratio ≥ 0.25, thyroid dysfunction, parathyroid adenoma detected during surgery were excluded. The sample consisted of 312 subjects. Results: The median, minimum, maximum, and 2.5th and 97.5th percentiles of the PTH values obtained were 30, 7.2, 78, 10.1, and 52 pg/mL, respectively. Thus, the reference range was 10 to 52 pg/mL. PTH > 65 pg/mL, the upper limit of normal according to the manufacturer of the kit, was observed in only one subject (0.3%). Considering the upper limit proposed by the kit's manufacturer, 1/6 hypercalcemic patients and 4/8 normocalcemic patients with PHPT had normal PTH. Using the upper limit established in this study, only one normocalcemic patient had normal PTH. Thus, the sensitivity of PTH in detecting asymptomatic primary hyperparathyroidism (PHPT) using the values recommended by the kit and established in this study was 64% and 93%, respectively (50% versus 87.5% for normocalcemic PHPT). Conclusion: The upper reference limit of PTH obtained for a rigorously selected sample was 20% lower than that provided by the assay, which increased its sensitivity in detecting PHPT.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Young Adult , Parathyroid Hormone/blood , Thyroid Nodule/blood , Hyperparathyroidism/diagnosis , Parathyroid Hormone/standards , Reference Values , Thyroidectomy , Vitamin D/analogs & derivatives , Vitamin D/blood , Brazil , Calcium/urine , Prospective Studies , Parathyroidectomy , Sensitivity and Specificity , Premenopause/blood , Postmenopause/blood , Hyperparathyroidism/blood
18.
Korean Journal of Radiology ; : 1441-1453, 2019.
Article in English | WPRIM | ID: wpr-760251

ABSTRACT

Identification of certain abnormalities of the chest wall can be extremely helpful in correctly diagnosing a number of syndromic conditions and systemic diseases. Additionally, chest wall abnormalities may sometimes constitute diagnoses by themselves. In the present pictorial essay, we review a number of such conditions and provide illustrative cases that were retrospectively identified from our clinical imaging database. These include pentalogy of Cantrell, Klippel-Feil syndrome, cleidocranial dysplasia, Poland syndrome, osteopetrosis, neurofibromatosis type 1, Marfan syndrome, Gardner syndrome, systemic sclerosis, relapsing polychondritis, polymyositis/dermatomyositis, ankylosing spondylitis, hyperparathyroidism, rickets, sickle cell anemia, thalassemia, tuberculosis, septic arthritis of the sternoclavicular joint, elastofibroma dorsi, and sternal dehiscence.


Subject(s)
Anemia, Sickle Cell , Arthritis, Infectious , Cleidocranial Dysplasia , Diagnosis , Gardner Syndrome , Hyperparathyroidism , Klippel-Feil Syndrome , Marfan Syndrome , Neurofibromatosis 1 , Osteopetrosis , Pentalogy of Cantrell , Poland Syndrome , Polychondritis, Relapsing , Retrospective Studies , Rickets , Scleroderma, Systemic , Spondylitis, Ankylosing , Sternoclavicular Joint , Thalassemia , Thoracic Wall , Tuberculosis
19.
Article in Korean | WPRIM | ID: wpr-738991

ABSTRACT

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant hereditary disorder caused by germline mutation of the MEN1 gene. It is characterized by tumors of the anterior pituitary gland, parathyroid glands, and endocrine pancreas. Thymic carcinoid tumor is uncommon and associated with a high mortality, but its natural history has not been investigated yet. We report a case of asymptomatic MEN 1 with a thymic carcinoid tumor. A 37-year-old man underwent a routine medical checkup and upper gastrointestinal endoscopy revealed a duodenal neuroendocrine tumor (NET). Further studies showed the coexistence of pancreatic tumor, parathyroid hyperplasia, pituitary adenoma, and thymoma. The patient underwent duodenal endoscopic mucosal resection, distal pancreatectomy, subtotal parathyroidectomy, and thymectomy. The pathological test revealed a duodenal NET, pancreatic NET, parathyroid hyperplasia, and thymic carcinoid tumor. He was treated for MEN 1. We report this asymptomatic case of MEN 1 with a literature review.


Subject(s)
Adult , Carcinoid Tumor , Endoscopy, Gastrointestinal , Germ-Line Mutation , Humans , Hyperparathyroidism , Hyperplasia , Islets of Langerhans , Mortality , Multiple Endocrine Neoplasia Type 1 , Multiple Endocrine Neoplasia , Natural History , Neuroendocrine Tumors , Pancreatectomy , Parathyroid Glands , Parathyroidectomy , Pituitary Gland, Anterior , Pituitary Neoplasms , Thymectomy , Thymoma
20.
Article in English | WPRIM | ID: wpr-785837

ABSTRACT

Despite the correction of secondary renal hyperparathyroidism after successful kidney transplantation, some recipients have persistent hyperparathyroidism due to autonomous hypertrophied parathyroid glands. St. Goar first identified and termed this disease as tertiary hyperparathyroidism. Surgery, either subtotal parathyroidectomy or total parathyroidectomy with autotransplantation, is the main treatment for tertiary hyperparathyroidism. Here, we report a case of a patient with tertiary hyperparathyroidism after two times of kidney transplantation who underwent subtotal parathyroidectomy and also review the relevant literature.


Subject(s)
Autografts , Humans , Hyperparathyroidism , Kidney Transplantation , Parathyroid Glands , Parathyroidectomy , Transplantation, Autologous
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