Case report: Unveiling a less severe congenital nephrotic syndrome in a Rapa Nui patient with a NPHS1 Maori founder variant.

Background: Congenital nephrotic syndrome (CNS) is a severe kidney disorder characterized by edema, massive proteinuria, and hypoalbuminemia that manifests in utero or within three months after birth. CNS affects 1-3 per 100,000 children, primarily associated with genetic variants and occasionally with infections. Genetic analysis is the first-line method for diagnosis. The most common founder variants have been identified in European populations, often resulting in end-stage kidney disease by 1-2 years of age. Case-diagnosis/treatment: A female full-term neonate, without prenatal signs of kidney disease, was admitted to Rapa Nui (Eastern Island) Hospital at the age of 2 months due to bronchial obstruction. She presented fever, oliguria, edema, urine protein-to-creatinine ratio (UPCR) 433.33, and hypoalbuminemia (0.9 g/dL). She was transferred to a mainland Chilean hospital following CNS diagnosis. Viral screening detected cytomegalovirus (CMV) positivity in both blood and urine. A kidney biopsy revealed interstitial nephritis and diffuse podocyte damage and the tissue PCR resulted negative for CMV. Interviews with the parents revealed consanguinity, suggestive of hereditary CNS. Genetic analysis identified the Maori founder variant, NPHS1 c.2131C>A (p.R711S), in homozygosis. The patient received albumin infusions and antiviral therapy, being discharged when she was 5 months old, with improved laboratory parameters evidenced by UPCR 28.55, albumin 2.5 g/dL, and cholesterol 190 mg/dL. Subsequent clinical monitoring was conducted through virtual and in-person consultations. At her last follow-up at 4 years 2 months old, she presented UPCR 16.1, albumin 3.3 g/dl and cholesterol 220 mg/dL, maintaining normal kidney function and adequate growth. Conclusions: To our knowledge, this represents the first case of CNS in Chile carrying a NPHS1 variant associated with prolonged kidney survival. As described in the Maori population, the patient exhibited a less severe clinical course compared to classical NPHS1 patients. Genetic testing for the Maori founder variant in CNS patients related to the New Zealand population, could impact management decisions and potentially prevent the need for nephrectomies.

Diagnostic yield of endobronchial ultrasound-guided transbronchial needle aspiration for mediastinal staging in lung cancer.

OBJECTIVE: Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is a minimally invasive diagnostic test with a high diagnostic yield for suspicious central pulmonary lesions and for mediastinal lymph node staging. The main objective of this study was to describe the diagnostic yield of EBUS-TBNA for mediastinal lymph node staging in patients with suspected lung cancer. METHODS: Prospective study of patients undergoing EBUS-TBNA for diagnosis. Patients ≥ 18 years of age were recruited between July of 2010 and August of 2013. We recorded demographic variables, radiological characteristics provided by axial CT of the chest, location of the lesion in the mediastinum as per the International Association for the Study of Lung Cancer classification, and definitive diagnostic result (EBUS with a diagnostic biopsy or a definitive diagnostic method). RESULTS: Our analysis included 354 biopsies, from 145 patients. Of those 145 patients, 54.48% were male. The mean age was 63.75 years. The mean lymph node size was 15.03 mm, and 90 lymph nodes were smaller than 10.0 mm. The EBUS-TBNA method showed a sensitivity of 91.17%, a specificity of 100.0%, and a negative predictive value of 92.9%. The most common histological diagnosis was adenocarcinoma. CONCLUSIONS: EBUS-TBNA is a diagnostic tool that yields satisfactory results in the staging of neoplastic mediastinal lesions.

[Bronchoscopy with transbronchial biopsy for the diagnosis of potentially malignant pulmonary lesions: experience in 261 patients]. / Rendimiento diagnóstico de la broncoscopia con biopsia transbronquial en el estudio de lesiones sugerentes de cáncer pulmonar.

BACKGROUND: Bronchoscopy is a minimally invasive procedure used for the diagnosis of lung cancer. AIM: To report our experience with bronchoscopy and transbronchial biopsies for the diagnosis of potentially malignant pulmonary lesions. MATERIAL AND METHODS: Revision of electronic records from patients who underwent transbronchial biopsies seeking for lung cancer. The diagnostic yield of the procedure was evaluated using pathology reports or a 24 months follow up. RESULTS: 261 patients were included. Bronchoscopy was diagnostic in 65% of cases. Lesions mean diameter was 51 mm (range 9-120 mm). Diagnostic yield for lesions less than 30 mm was 59%, for lesions less than 35 mm was 61%, and for lesions over 40 mm was 69%. The presence of malignant lesions and their location in the superior or middle lobe were associated with a better predictive value of the procedure. TNM staging was IIIB/IV in 80% of the patient at the time of diagnosis. CONCLUSIONS: The diagnostic yield of bronchoscopy is influenced by the etiology and location of lung lesions.

Diagnostic yield of endobronchial ultrasound-guided transbronchial needle aspiration for mediastinal staging in lung cancer / Rendimiento diagnóstico de la ultrasonografía endobronquial con aspiración transbronquial por aguja fina en el estudio de etapificación mediastínica en pacientes con cáncer pulmonar

OBJECTIVE: Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is a minimally invasive diagnostic test with a high diagnostic yield for suspicious central pulmonary lesions and for mediastinal lymph node staging. The main objective of this study was to describe the diagnostic yield of EBUS-TBNA for mediastinal lymph node staging in patients with suspected lung cancer. METHODS: Prospective study of patients undergoing EBUS-TBNA for diagnosis. Patients ≥ 18 years of age were recruited between July of 2010 and August of 2013. We recorded demographic variables, radiological characteristics provided by axial CT of the chest, location of the lesion in the mediastinum as per the International Association for the Study of Lung Cancer classification, and definitive diagnostic result (EBUS with a diagnostic biopsy or a definitive diagnostic method). RESULTS: Our analysis included 354 biopsies, from 145 patients. Of those 145 patients, 54.48% were male. The mean age was 63.75 years. The mean lymph node size was 15.03 mm, and 90 lymph nodes were smaller than 10.0 mm. The EBUS-TBNA method showed a sensitivity of 91.17%, a specificity of 100.0%, and a negative predictive value of 92.9%. The most common histological diagnosis was adenocarcinoma. CONCLUSIONS: EBUS-TBNA is a diagnostic tool that yields satisfactory results in the staging of neoplastic mediastinal lesions. .

OBJETIVO: La ultrasonografía endobronquial con aspiración transbronquial por aguja fina (EBUS-TBNA, por sus siglas en inglés) es una alternativa mínimamente invasiva con un alto rendimiento diagnóstico para lesiones pulmonares centrales sospechosas de cáncer o para etapificación de linfonodos mediastínicos. El objetivo principal de este trabajo es describir el rendimiento de EBUS-TBNA como método de etapificación de linfonodos mediastínicos en pacientes con sospecha de cáncer pulmonar. MÉTODOS: Estudio prospectivo de pacientes sometidos a EBUS-TBNA como método diagnóstico. Se seleccionaron pacientes mayores de 18 años entre julio del 2010 y agosto del 2013. Se registraron variables demográficas, características radiológicas mediante TC axial de tórax, localización mediastínica según clasificación de la International Association for the Study of Lung Cancer y resultado diagnóstico definitivo (EBUS con biopsia diagnóstica o método diagnóstico definitivo). RESULTADOS: Se incluyeron 145 pacientes con un total de 354 biopsias. El 54,48% de los pacientes eran hombres, con edad promedio de 63,75 años. El tamaño promedio de los linfonodos fue de 15,03 mm, y 90 fueron menores de 10,0 mm. El rendimiento diagnóstico fue: sensibilidad, 91,17%; especificidad, 100,0%; y valor predictivo negativo, 92,9%. El diagnóstico histológico más frecuente fue adenocarcinoma. CONCLUSIONES: EBUS-TBNA es una herramienta diagnóstica con buenos resultados en el estudio de etapificación de lesiones neoplásicas en mediastino. .

Rendimiento diagnóstico de la broncoscopia con biopsia transbronquial en el estudio de lesiones sugerentes de cáncer pulmonar / Bronchoscopy with transbronchial biopsy for the diagnosis of potentially malignant pulmonary lesions: experience in 261 patients

Background: Bronchoscopy is a minimally invasive procedure used for the diagnosis of lung cancer. Aim: To report our experience with bronchoscopy and transbronchial biopsies for the diagnosis of potentially malignant pulmonary lesions. Material and Methods: Revision of electronic records from patients who underwent transbronchial biopsies seeking for lung cancer. The diagnostic yield of the procedure was evaluated using pathology reports or a 24 months follow up. Results: 261 patients were included. Bronchoscopy was diagnostic in 65% of cases. Lesions mean diameter was 51 mm (range 9-120 mm). Diagnostic yield for lesions less than 30 mm was 59%, for lesions less than 35 mm was 61%, and for lesions over 40 mm was 69%. The presence of malignant lesions and their location in the superior or middle lobe were associated with a better predictive value of the procedure. TNM staging was IIIB/IV in 80% of the patient at the time of diagnosis. Conclusions: The diagnostic yield of bronchoscopy is influenced by the etiology and location of lung lesions.