RESUMO
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a rare disease first reported in 2020, most commonly seen in men aged 56-75 years old. Common clinical features include skin lesions (83.5%), fever (63.6%), relapsing chondritis (36.4%), venous thrombosis (34.7%) and lymph node enlargement (33.9%). The patient is a man in his 40s who presented with testicular and lower extremity pain, followed by a rash and bicytopenia. He was initiated on corticosteroids and sulfasalazine. He was found to have mediastinal lymphadenopathy and underwent an endobronchial ultrasound and transbronchial needle aspiration followed by a video-assisted thoracic surgery biopsy which were unrevealing. Eventually, an ubiquitin-like modifier activating enzyme (UBA-1) gene analysis was performed that was consistent with VEXAS syndrome. Patients with VEXAS syndrome usually present with a red or violaceous rash and dyspnoea. Laboratory abnormalities include anaemia, elevated mean corpuscular volume, thrombocytopenia and elevated inflammatory markers. Diagnosis is based on the genetic mutation and associated symptoms. The treatment includes steroids and Janus kinase (JAK) inhibitors, specifically ruxolitinib.
Assuntos
Linfadenopatia , Humanos , Masculino , Linfadenopatia/etiologia , Adulto , Enzimas Ativadoras de Ubiquitina/genética , Doenças do Mediastino/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Doenças Hereditárias Autoinflamatórias/diagnóstico , Doenças Hereditárias Autoinflamatórias/genética , Diagnóstico Diferencial , Síndrome , Nitrilas , Pirazóis , PirimidinasRESUMO
With the advent of bronchoscopic lung-volume reduction (BLVR), this minimally invasive technique represents a new and effective way of managing the debilitating symptoms associated with severe centrilobular emphysema. Despite its vast potential in the management of this disease, there are still several potential risk factors associated with the procedure that may predispose the patient to increased morbidity. Our patient received four endobronchial valves in the right-upper lobe (RUL) and right-middle lobe (RML). Although her immediate post-procedure course was uncomplicated, she returned shortly after discharge with a right-sided pneumothorax and right-lower lobar pneumonia with sputum culture growing methicillin-sensitive Staphylococcus aureus (S. aureus). She was managed with tube thoracostomy and two weeks of cefazolin with clinical improvement. Despite the abundance of literature detailing the risk of pneumonia following BLVR, very little data exists discussing common causative organisms, choice of treatment, duration of treatment, and potential risk factors that may predispose these patients to infection.
RESUMO
A 22-year-old Asian male presented with fever, non-productive cough, right-sided pleuritic chest pain and was found to have a large right hydropneumothorax. A chest tube was placed. Pleural fluid analysis revealed a lymphocytic predominant exudate and he was subsequently started on four-drug daily anti-tuberculosis therapy (isoniazid, ethambutol, rifampin, pyrazinamide). Pleural biopsy revealed acid-fast bacilli. Given his persistent pleural effusion, he was given four doses of intrapleural tissue plasminogen activator (tPA) and dornase alpha (DNase) via his chest tube over a period of 6 days resulting in clinical and radiologic improvement. Pleural biopsy and pleural fluid culture specimens later revealed Mycobacterium tuberculosis. Intrapleural tPA-DNase therapy has demonstrated improved resolution of infections and shortened hospitalizations for parapneumonic infectious effusions. However, there is little literature on the use of intrapleural fibrinolytics specifically for pleural tuberculosis associated effusions. Furthermore, the American Thoracic Society does not comment on therapeutic thoracentesis or intrapleural fibrinolytic therapy in their recommendations for treatment of pleural tuberculosis. In our case of pleural TB-associated hydropneumothorax, the use of intrapleural tPA-DNase therapy facilitated pleural fluid drainage and resulted in near-complete resolution of the effusion.
RESUMO
OBJECTIVES: To determine whether patient age is associated with differences in flexible bronchoscopy technique and tolerance. DESIGN: Prospective cohort study. SETTING: University hospital system. PARTICIPANTS: One thousand three hundred fifty-eight adults, including 219 (16.1%) aged 70 and older, undergoing bronchoscopy. MEASUREMENTS: Indications, sampling procedures, medication doses, patient reports of pain, willingness to return, and adverse events associated with bronchoscopy. RESULTS: Indications for bronchoscopy varied with age, with solitary pulmonary nodule (P <.001), mass (P <.001), or lymphadenopathy (P <.001) being more common in older patients. Invasive sampling methods were used more often with increasing age, but variation in disease processes between age groups accounted for the difference in sampling method performed. Mean doses of midazolam and fentanyl given for sedation decreased with increasing age (P <.001). There was no significant difference between older and younger patients in reported very good to excellent pain control (50% of patients >/=70 vs 64% of patients <40; P =.56) or in willingness to return for repeat bronchoscopy (98% vs 92%, respectively; P =.324). Overall risk for an adverse event increased with increasing patient age (P <.01), but adverse events were uncommon and generally not severe. Hypotension and pneumothorax were rare but occurred more often in older persons (1.9% and 3.4% in patients >/=70 vs 0.5% and 0.7% in patients <40, respectively). CONCLUSION: Despite more-invasive sampling methods and less sedation during bronchoscopy, elderly patients tolerate bronchoscopy as well as younger patients. There is increased risk for adverse events with increasing age, but the absolute frequency is low, suggesting that chronological age should not be a contraindication for bronchoscopy in older persons.
Assuntos
Broncoscopia/efeitos adversos , Pneumopatias/patologia , Aceitação pelo Paciente de Cuidados de Saúde , Complicações Pós-Operatórias , Avaliação de Processos em Cuidados de Saúde , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Satisfação do Paciente , Estudos ProspectivosRESUMO
Pulmonary alveolar proteinosis is a rare lung disease characterized by accumulation of lipoproteinaceous material within the alveoli. Therapeutic whole-lung lavage (WLL) under general anesthesia is the standard treatment in patients with progressive symptomatic disease. Severe hypoxemic respiratory failure is uncommon, yet when present poses a technical challenge to performing WLL without further compromising respiratory status. Rarely, hyperbaric chamber or extracorporeal membrane oxygenation (ECMO) has been utilized to perform WLL to manage severe hypoxemia, with venovenous ECMO being used more often. We present a case of hypoxemic and hypercarbic respiratory failure from pulmonary alveolar proteinosis successfully managed by placing the patient on venoarterial ECMO to facilitate the performance of bilateral WLL.
Assuntos
Lavagem Broncoalveolar/métodos , Oxigenação por Membrana Extracorpórea/métodos , Hipercapnia/terapia , Hipóxia/terapia , Proteinose Alveolar Pulmonar/terapia , Insuficiência Respiratória/terapia , Adulto , Síndrome de Behçet/complicações , Síndrome de Behçet/terapia , Feminino , Humanos , Hipercapnia/etiologia , Hipóxia/etiologia , Proteinose Alveolar Pulmonar/complicações , Resultado do TratamentoRESUMO
We present an interesting case of a young female smoker who was hospitalized for shortness of breath and acute renal insufficiency (serum creatinine = 2.8 mg/dL). Few weeks prior to admission, she was discovered to have a right lung mass, and a biopsy confirmed lung adenocarcinoma. Her work-up revealed an unremarkable urinalysis quantitatively and on microscopic analysis. Renal ultrasound demonstrated enlarged bilateral unobstructed kidneys, while a nuclear scan showed increased activity in both kidneys. Renal biopsy established the diagnosis of diffuse metastatic infiltration of both kidneys from primary lung adenocarcinoma. Her renal function worsened despite initiation of chemotherapy. Carcinomatous infiltration of the kidneys is an extremely rare and unusual cause of renal injury that must be suspected in a patient with cancer and large kidneys.