RESUMO
Isolated hypoparathyroidism (IH) shows heterogeneous phenotypes and can be caused by defects in a variety of genes. The goal of our study was to determine the clinical features and to analyze gene mutations in a large cohort of Korean patients with sporadic or familial IH. We recruited 23 patients. They showed a broad range of onset age and various values of biochemical data. Whole exome sequencing was performed on two affected cases and one unaffected individual in a family. All coding exons and exon-intron borders of GCMB, CASR, and prepro-PTH were sequenced using PCR-amplified DNA. In one family who underwent the whole exome sequencing analysis, approximately 300 single nucleotide changes emerged as candidates for genetic alteration. Among them, we identified a functional mutation in exon 2 of GCMB (C106R) in two affected cases. Besides, heterozygous gain-of-function mutations in the CASR gene were found in other subjects; D410E and P221L. We also found one single nucleotide polymorphism (SNP) in the prepro-PTH gene, five SNPs in the CASR gene, and four SNPs in the GCMB gene. The current study represents a variety of biochemical phenotypes in IH patients with the molecular genetic diagnosis of IH.
Assuntos
Adulto , Idoso , Humanos , Pessoa de Meia-Idade , Adulto Jovem , Povo Asiático/genética , Estudos de Coortes , Heterozigoto , Hipoparatireoidismo/diagnóstico , Proteínas Nucleares/genética , Hormônio Paratireóideo/genética , Fenótipo , Polimorfismo de Nucleotídeo Único , Receptores de Detecção de Cálcio/genética , Sistema de Registros , República da Coreia , Fatores de Transcrição/genéticaRESUMO
Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a disorder which can be caused by treatment with a diverse collection of drugs, and it is characterized by fever, rash, lymphadenopathy, and internal organ involvement with eosinophilia. Although ethambutol and rifampin are popularly used to treat tuberculosis, there has been only one reported case of DRESS syndrome associated with ethambutol. DRESS syndrome associated with administration of rifampin have not been reported. In this report and discussion, we present the case of a patient suffering from DRESS syndrome induced by both ethambutol and rifampin.
Assuntos
Humanos , Eosinofilia , Etambutol , Exantema , Febre , Doenças Linfáticas , Rifampina , Estresse Psicológico , TuberculoseRESUMO
Patients with hyperthyroidism can develop left ventricular dysfunction and heart failure, but severe pulmonary hypertension association with hyperthyroidism is rarely seen. Herein, we describe the case of a 27-year-old female who presented with abdominal distension accompanied by pulmonary arterial hypertension and Graves' disease. Her pulmonary arterial hypertension was improved by treating the hyperthyroidism and pulmonary artery hypertension. Additionally, the patient's symptoms of right-side heart failure improved after pulmonary arterial pressure was reduced. Hyperthyroidism should be regarded as a reversible cause of associated pulmonary arterial hypertension.
Assuntos
Adulto , Feminino , Humanos , Pressão Arterial , Ascite , Doença de Graves , Insuficiência Cardíaca , Hipertensão , Hipertensão Pulmonar , Hipertireoidismo , Artéria Pulmonar , Disfunção Ventricular EsquerdaRESUMO
Thanks to advances in assay techniques and routine measurements in serum chemical analysis, primary hyperparathyroidism has become far more frequently detected, and the number of asymptomatic patients has substantially increased. In the majority of patients (85%), a solitary adenoma is the underlying cause of primary hyperparathyroidism. Surgical excision is the treatment of choice for most cases of primary hyperparathyroidism; this procedure has a relatively high success rate. In the past decade, improvements in preoperative imaging have played a major role in a targeted operative approach, which allows for minimally invasive surgery to be performed. The success of parathyroid surgery depends on the accurate preoperative localization of parathyroid adenoma. In this study, we report the case of a 54 year-old woman with primary hyperparathyroidism who presented with left buttock and leg pain. For localization of the parathyroid lesion, an ultrasonography and a 99mTc-sestamibi scan were initially performed, but these attempts failed to localize the lesion. We then carried out contrast-enhanced CT; thereafter, a single parathyroid adenoma was detected. Therefore, in patients with negative results on both ultrasonography and 99mTc-sestamibi scan, contrast-enhanced CT may prove helpful for preoperative parathyroid localization.
Assuntos
Feminino , Humanos , Adenoma , Nádegas , Hiperparatireoidismo Primário , Perna (Membro) , Neoplasias das Paratireoides , Tecnécio Tc 99m SestamibiRESUMO
No abstract available.
Assuntos
Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos , Hipertireoidismo , PropiltiouracilaRESUMO
No abstract available.