RESUMEN
INTRODUCTION: The spectrum of clinical presentation of Fabry disease (FD) in women is broad and challenging. The aim is to evaluate the effectiveness of an alternative screening method for FD in women. METHODS: A collaborative multicenter cross-sectional study to evaluate the sensitivity and specificity of the combination of two tests (α-GAL enzyme activity assay and lyso-GL3 assay) for the diagnosis of FD in women. We included women with chronic kidney disease (CKD) stages 3 to 5, receiving conservative treatment or on dialysis programs, from different nephrology services in Brazil. RESULTS: We evaluated 1874 patients that underwent blood collection for α-GAL and lyso-GL3 assays. Isolated decreased α-GAL enzyme activity was found in 64 patients (3.5%), while isolated increased lyso-GL3 levels were found in 67 patients (3.6%), with one patient presenting alterations in both tests. All cases with low α-GAL enzyme activity and/or increased lyso-GL3 levels underwent genetic analysis for FD variants (132 performed GLA genetic test). Low α-GAL enzyme activity had higher sensitivity and specificity to detect FD compared to the other measures (elevated lyso-GL3 alone or both altered). The negative predictive value (NPV) of α-GAL activity was 99%, and the positive predictive value (PPV) was 9.2%. For lyso-GL3 assay, the specificity was 99.7% and the PPV was 2.9%, therefore considered inferior to α-GAL assay. Both assays altered, had higher PPV (100%) and higher NPV (99.7%) considered the best method. We found 7 cases of GLA gene variants found, resulting in an initial prevalence of 0.37% for FD in this sample female population. CONCLUSION: This study contributes to the diagnostic value of the biomarkers α-GAL and lyso-GL3 in the context of FD in women with CKD. The combination of these biomarkers was an effective approach for the diagnosis of the disease, with high PPV and NPV.
RESUMEN
PURPOSE: Parathyroidectomy can be subtotal or total with an autograft for the treatment of renal hyperparathyroidism. In both cases, it may be extended with bilateral thymectomy and total or partial thyroidectomy. Thymectomy may be recommended in combination with parathyroidectomy in order to prevent mediastinal recurrence. Also, the occurrence of thyroid disease observed in patients with hyperparathyroidism is poorly understood and the incidence of cancer is controversial. The aim of the present study was to report the experience of a single center in the surgical treatment of renal hyperparathyroidism and to analyse the role of thyroid and thymus surgery in association with parathyroidectomy. MATERIALS AND METHODS: We analysed parathyroid surgery data, considering patient demographics, such as age and gender, and surgical procedure data, such as type of hyperparathyroidism, associated thyroid or thymus surgery, surgical duration and mediastinal recurrence. Histopathological results of thyroid and thymus samples were also analysed. RESULTS: Medical records of 109 patients who underwent parathyroidectomy for secondary hyperparathyroidism were reviewed. On average, thymectomy did not have impact on time of parathyroidectomy (pâ¯=â¯0.62) even when thyroidectomy was included (pâ¯=â¯0.91). Intrathymic parathyroids were detected in 7.5% of the thymuses removed and papillary carcinoma was detected in 20,8% of thyroid tissue samples. Two patients showed recurrence of supernumerary intrathymic parathyroids and a single case of mediastinitis was observed. CONCLUSIONS: Parathyroidectomy with thymectomy and/or thyroidectomy has an important role in the treatment of renal hyperparathyroidism since thyroid cancer can frequently occur and require surgery. Thymectomy should be considered to avoid recurrence and a risky re-operation.
Asunto(s)
Hiperparatiroidismo Secundario/cirugía , Paratiroidectomía , Insuficiencia Renal Crónica/complicaciones , Timectomía , Tiroidectomía , Adulto , Femenino , Humanos , Hiperparatiroidismo Secundario/etiología , Masculino , Persona de Mediana Edad , Selección de Paciente , Estudios Retrospectivos , Neoplasias de la Tiroides/complicaciones , Neoplasias de la Tiroides/patología , Neoplasias de la Tiroides/cirugía , Resultado del TratamientoRESUMEN
UNLABELLED: Chyluria is an inappropriate urinary excretion of chyle that turns the urine milky. A nutritional approach based on low-fat/high-protein content diet associated or not with medium-chain triglyceride (MCT) showed to be an efficient conservative treatment to improve the milky urine appearance in a patient with chyluria. CASE REPORT: A 30-year-old female patient was admitted with chyluria of unknown etiology. An ureteropyeloscopy revealed a single lesion in each kidney, both with linear aspect and measuring 5 mm in extension. These lesions were located close to the renal papillae and were leaking a cloudy and milky fluid. Both lesions were laser cauterized followed by improvement of the milky urine. However, the chyluria relapsed after few months and a low-fat/high-protein content diet with 10 g of soybean oil to meet the requirements essential fatty acids (EFA) and with MCT from coconut oil as alternative to prepare foods was started. Few weeks later the patient returned reporting consistent improvement of the milky urine appearance related with the use of the diet. However since the diet was tasteless and time consuming to prepare, she reported low compliance to diet with MCT and the milky urine relapsed. The MCT was discontinued and the diet with EFA source was maintained with better compliance. Since then the chyluria remains in remission. In conclusion, the dramatic improvement of the milky urine with low-fat/high-protein diet with EFA source observed in our patient demonstrates that this nutritional approach is efficient with fast results to treat chyluria during long term.
Asunto(s)
Quilo , Grasas de la Dieta/administración & dosificación , Proteínas en la Dieta/administración & dosificación , Adulto , Aceite de Coco , Diagnóstico Diferencial , Femenino , Glomerulonefritis/diagnóstico , Humanos , Aceites de Plantas/administración & dosificación , Proteinuria/etiología , Aceite de Soja/administración & dosificación , OrinaRESUMEN
PURPOSE: To describe the clinical and radiologic features of orbital involvement in craniofacial brown tumors and to compare the rate of brown tumors in primary and secondary hyperparathyroidism. METHODS: A retrospective hospital-based study of 115 patients with chronic kidney disease and secondary hyperparathyroidism and 34 with primary hyperparathyroidism was conducted. Laboratory results such as serum levels of alkaline phosphatase, calcium, phosphorus, and parathyroid hormone were recorded. Demographic data (age, sex, duration of disease) and image findings (bone scan scintigraphy, skull and long bone x-rays, CT) were also obtained. The main outcome measures were analysis of clinical, biochemical, and radiologic findings of all patients. RESULTS: Of the 115 patients with chronic kidney disease, 10 (8.7%) had brown tumors in different bones of the skeleton. Five patients had lesions in the craniofacial bones. The maxilla, mandible, maxillary sinus, and nasal cavity were the most affected sites. The orbit was involved in 2 patients with lesions arising in the maxillary and ethmoid sinuses. One patient had facial leontiasis. All patients with brown tumors had extremely high levels of parathyroid hormone (>1,000 pg/ml, normal values 10-69 pg/ml) and alkaline phosphatase (>400 U/l, normal values 65-300 U/l). The mean serum levels of phosphorus and calcium were not abnormal among the patients with brown tumors. Age and time of renal failure were similar for patients with and without brown tumors. Among the patients with primary hyperparathyroidism, only 2 (5.8%) had brown tumors, and in just 1, the lesion was localized in the craniofacial skeleton. A 2-tailed Z test applied to compare the proportion of occurrence of brown tumors in the 2 groups revealed that the difference at the 90% of confidence level was not significant. CONCLUSIONS: Brown tumors are equally found in secondary and primary hyperparathyroidism. Craniofacial brown tumors involve the orbit, usually because of the osteodystrophy process that involves the maxilla and paranasal sinuses. The lesions do not necessarily need to be excised and may regress spontaneously after the control of hyperparathyroidism.
Asunto(s)
Trastornos Craneomandibulares/etiología , Granuloma de Células Gigantes/etiología , Hiperparatiroidismo Secundario/complicaciones , Hiperparatiroidismo/complicaciones , Enfermedades Maxilares/etiología , Enfermedades Orbitales/etiología , Adolescente , Adulto , Anciano , Fosfatasa Alcalina/sangre , Calcio/sangre , Niño , Preescolar , Trastornos Craneomandibulares/sangre , Trastornos Craneomandibulares/diagnóstico por imagen , Femenino , Granuloma de Células Gigantes/sangre , Granuloma de Células Gigantes/diagnóstico por imagen , Humanos , Hiperparatiroidismo/sangre , Hiperparatiroidismo/diagnóstico por imagen , Hiperparatiroidismo Secundario/sangre , Hiperparatiroidismo Secundario/diagnóstico por imagen , Lactante , Fallo Renal Crónico/complicaciones , Masculino , Enfermedades Maxilares/sangre , Enfermedades Maxilares/diagnóstico por imagen , Persona de Mediana Edad , Enfermedades Orbitales/sangre , Enfermedades Orbitales/diagnóstico por imagen , Enfermedades de las Paratiroides/complicaciones , Hormona Paratiroidea/sangre , Fósforo/sangre , Tomografía de Emisión de Positrones , Estudios Retrospectivos , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: Secondary hyperparathyroidism is a common complication in uremic patients. Total parathyroidectomy combined with partial autotransplantation into brachioradialis muscle has been the preference among the options for surgical treatment. This study was designed to evaluate the reserve and ability of suppression of autotransplanted parathyroid tissue using dynamics tests. METHODS: We studied, prospectively, 12 patients in recent (RP) and late (LP) postoperative of total parathyroidectomy with autotransplantation. For analysis of the secretory reserve capacity, we induced hypocalcemia by ethylenediaminetetraacetic acid (EDTA) infusion. Furthermore, for analysis of the ability for parathyroid hormone (PTH) suppression, the hypercalcemia test was used, by intravenous administration of calcium in LP. RESULTS: In RP, there was a decrease in the average serum levels of PTH, phosphorus, and alkaline phosphatase, which ranged from 13 to 231 (87 +/- 65) pg/ml, 2.3 to 6.2 (3.3 +/- 1.1) mg/dl, and 77 to 504 (250 +/- 135) U/L, respectively, similar to that observed in LP. The analysis of the average curve of variations in PTH during testing of the stimulus with EDTA showed lack of secretion in RP and partial response in LP. Impaired suppression ability of the graft in LP was observed in the test with intravenous calcium. CONCLUSIONS: Total parathyroidectomy followed by partial autotransplantation was effective in reducing PTH serum levels in patients with terminal kidney disease. The elevation of serum calcium during the suppression test was not able to inhibit the autograft gland secretion of PTH. The assessment of parathyroid graft function demonstrated an inability to respond to the stimulus of hypocalcemia induced by EDTA, although there was a partial recovery, in late postoperative period.
Asunto(s)
Calcio/sangre , Hiperparatiroidismo Secundario/sangre , Hiperparatiroidismo Secundario/cirugía , Glándulas Paratiroides/trasplante , Hormona Paratiroidea/metabolismo , Paratiroidectomía/métodos , Trasplante Autólogo/métodos , Adulto , Teorema de Bayes , Calcio/metabolismo , Terapia Combinada , Femenino , Estudios de Seguimiento , Rechazo de Injerto , Supervivencia de Injerto , Humanos , Hiperparatiroidismo Secundario/etiología , Fallo Renal Crónico/complicaciones , Fallo Renal Crónico/diagnóstico , Masculino , Persona de Mediana Edad , Hormona Paratiroidea/sangre , Probabilidad , Estudios Prospectivos , Medición de Riesgo , Índice de Severidad de la Enfermedad , Resultado del TratamientoRESUMEN
BACKGROUND AND AIMS: Hyperphosphatemia constitutes one of the major problems faced by patients with chronic kidney disease, and nourishment plays a significant role in its control. The present study aimed to evaluate the maintenance of phosphorus serum levels by observing measurements before and after an intervention using the Phosphorus Counting Table (PCT), in hemodialysis patients lacking phosphate binder use. METHODS: The assessment included fifty individuals on hemodialysis who underwent phosphate binder suspension 30 days prior to the intervention. The participants received food and nutrition education on the PCT tool, which assists in the control of dietary phosphorus intake, and followed its instructions for two months. Fasting blood samples were collected at three moments for phosphorus, total calcium, and parathyroid hormone (PTH) analysis. The study sample was initially analyzed as a whole, then sub-classified into two groups: adherence and non-adherence. RESULTS: At the end of the study, no significant difference in serum phosphorus was observed in the total and the adherence groups (p > 0.05). The non-adherence group showed a substantial increase of 0.74 mg/dL in serum phosphorus levels and 6.16 mg2/dL2 in the calcium-phosphorus product after the intervention. Meanwhile, the calcium-phosphorus product improved from 56.42 ± 11.49 mg2/dL2 to 51.05 ± 10.67 mg2/dL2 in the adherence group. Serum calcium levels did not change throughout the study in the three groups. A significant increment in PTH serum levels was observed at the end of the study in all groups. CONCLUSION: The PCT showed to be efficient in the maintenance of serum phosphorus in the individuals who adhered well to the tool, without the administration of phosphate binders. Such a method can assist in patient adherence to treatment and enables better diet flexibility. The present trial was registered under the Brazilian Clinical Trials Registry (Rebec). Registration number: RBR-2vzd48.
Asunto(s)
Hiperfosfatemia/prevención & control , Fallo Renal Crónico/terapia , Cooperación del Paciente , Fósforo/sangre , Diálisis Renal/métodos , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Fallo Renal Crónico/sangre , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios , Adulto JovenRESUMEN
OBJECTIVES: This study aimed to evaluate the bone formation process in experimental defects created on rabbit calvarial, in which one of the bone defects was covered by the impermeable membrane before suturing the skin flap, while the other was closed only by the cutaneous flap. The experimental holes were filled only by the blood clot. MATERIAL AND METHODS: Sixteen New Zealand female rabbits weighing between 3.5 and 4 kg were used. Two experimental bone defects were made in the rabbit calvarial. The holes were filled only with the blood clot and one of them was covered with an impermeable polypropylene membrane. A histological analysis was made at 21 and 42 days following the surgery. Histological evaluation consisted of the following: 1. inflammatory process; 2. Bone repair; 3. Bone remodeling; 4. Presence of osteoid matrix and mineralization, and 5. Formation of hematopoietic tissue. Each characteristic was analyzed semi quantitatively. RESULTS: There was a statistical difference between the test and the control group at 21 days of healing in the following items: presence of cementation line (p = 0.012), presence of osteoid tissue (p = 0.012), and trabecular bone tissue development and mineralization (p = 0.012). A greater amount of lamellar bone tissue (mature) was also observed in the test group compared to the control group. CONCLUSION: The semiquantitative analysis showed that at 21 days there was a superiority of the repair process in the test group; at 42 days there was no significant difference in bone formation between the two groups; and that the polypropylene membrane is feasible to be used in GBR. CLINICAL SIGNIFICANCE: The impermeable polypropylene barrier is feasible for use in the guided bone regeneration technique. It can be used only on the blood clot, without the need for grafting, and can be easily removed a few days after surgery. These results are unprecedented.
Asunto(s)
Enfermedades Óseas Metabólicas , Trastorno Mineral y Óseo Asociado a la Enfermedad Renal Crónica , Insuficiencia Renal Crónica , Enfermedades Óseas Metabólicas/diagnóstico , Trastorno Mineral y Óseo Asociado a la Enfermedad Renal Crónica/diagnóstico , Humanos , Insuficiencia Renal Crónica/complicacionesRESUMEN
BACKGROUND: A major challenge for dental implantology is to consistently obtain appropriate bone augmentation before implant placement. The aim of this study is to evaluate the effect of recombinant human bone morphogenetic protein 2 (rhBMP-2) associated with bone substitute materials beta-tricalcium phosphate (ß-TCP), biphasic calcium phosphate (BCP), and bovine bone mineral on vertical guided bone regeneration (GBR) in rabbit calvarium. METHODS: Four titanium cylinders were fixed to the calvarium of 22 rabbits. In group 1 (n = 10), three cylinders were randomly filled with one of the test materials, and one cylinder was filled with a blood clot (CL). In group 2 (n = 12), the cylinders were randomly assigned to the same materials and CL but with the addition of rhBMP-2. Bone labels were injected over the course of 13 weeks, and euthanasia was performed 14 weeks after surgery in both groups. RESULTS: The mean volume and area of tissue growth was greater in group 2 (with rhBMP-2) than in group 1 (without rhBMP-2), irrespective of the material used (P <0.001). The mean volume of tissue growth in the CL cylinder was smaller than that observed with all other materials (P <0.001) in both groups. The mean area of regenerated bone in the CL cylinder was smaller than that observed in the ß-TCP cylinder (P = 0.028). The histologic study revealed more lamellar bone in the rhBMP-2 group, with a greater level of biodegradation of all the bone substitute materials tested. CONCLUSION: The use of rhBMP-2/absorbable collagen sponge (ACS) combined with all of the bone substitute materials tested resulted in a greater amount of bone formation than that produced with the bone substitute materials alone or rhBMP-2/(ACS) and CL using the rabbit calvarium GBR model.
Asunto(s)
Proteína Morfogenética Ósea 2/farmacología , Regeneración Ósea/efectos de los fármacos , Sustitutos de Huesos/farmacología , Regeneración Tisular Dirigida/métodos , Animales , Fosfatos de Calcio/farmacología , Hidroxiapatitas/farmacología , Conejos , Proteínas Recombinantes/farmacología , Cráneo/cirugíaRESUMEN
Objetivos: Estimar a população elegível para o tratamento de pacientes com hiperparatireoidismo secundário (HPTS), não controlados com terapia convencional, bem como avaliar a utilização de recursos para o tratamento dessa população com cinacalcete ou paratireoidectomia (PTX). Métodos: Utilização da técnica Delphi por painel de especialistas. A pesquisa foi realizada utilizando questionário estruturado, enviado por meio eletrônico aos especialistas, e seguida de encontro presencial. Os custos foram obtidos de bases de dados governamentais. Apenas custos médicos diretos foram incluídos, sob a perspectiva do Sistema Único de Saúde (SUS) (em reais no ano de 2014). Os dados foram avaliados pelo Microsoft Excel versão 2013. Resultados: A população no cenário de mundo real indicada para o tratamento com cinacalcete foi de 7.705 pacientes. Já a população real encaminhada para a PTX foi de 7.691 pacientes, sendo esse número 76,3% maior que a população ideal com indicação de PTX, que foi de 1.822 pacientes. O custo estimado do tratamento com cinacalcete foi de R$ 27.712,95 (considerando a dose recomendada em bula para cinacalcete, de 30 a 180 mg/ dia) e de R$ 16.841,85 para PTX (incluindo os períodos pré e pós-cirúrgico). A análise de sensibilidade foi baseada na dose média de cinacalcete, conforme o estudo EVOLVE (66,8 mg/dia). Nesse cenário, o custo do tratamento com cinacalcete foi de R$ 11.924,13 (57% menor que o cenário com a dose de bula). Conclusão: No cenário SUS, o número de pacientes encaminhados para PTX foi 76,3% maior que os idealmente indicados à cirurgia, o que ocorre devido à falta de opções terapêuticas.
Objectives: To estimate patient management patterns, associated medical resource utilization and use of cinacalcet for secondary hyperparathyroidism in chronic hemodialysis patients and much uncontrolled with conventional treatment, in the Unified Healthcare System (SUS) setting, in 2014. Methods: An expert panel was carried using the Delphi technique. The research was done by structured and unambiguous questionnaires that were sent by email to the entire Delphi panel, followed by a face meeting. Expense inputs were mainly obtained from government fee schedules and pharmaceutical price tables. Only medical direct costs were included under the perspective of SUS [in 2014 Brazilian Real (BRL)]. Data were analyzed using Microsoft Excel Worksheet version 2013. Results: The eligible population to cinacalcet treatment was 9,513 patients. Considering an ideal scenario, this number goes to 7,705 patients. The estimated population for parathyroidectomy was 7,691 patients in a real scenario and 1,822 in an ideal scenario (76.3% more patients than the ideally suited to the procedure). The estimated annual cost with cinacalcet treatment is 27,712.95 BRL (considering the label dose for cinacalcet) and 16,841.85 BRL for parathyroidectomy (including pre and post-operative period), respectively. A sensitivity analysis was performed considering the cost of cinacalcet treatment using the drug's dose of EVOLVE study (66.8 mg). This scenario showed a total cost of 11,924.13 BRL (57% less than label dose scenario). Conclusion: 76.3% more patients are indicated to the surgery due the absence of other therapeutic options for management of secondary hyperparathyroidism in chronic hemodialysis patients and much uncontrolled with conventional treatment, in the SUS setting.