ABSTRACT
La enfermedad antimembrana basal glomerular (EMBG) es un trastorno autoinmune caracterizado por la presencia de anticuerpos antimembrana basal glomerular (AMBG), hemorragia pulmonar, glomerulonefritis necrotizante y depósito lineal de inmunoglobulinas en inmunofluorescencia directa. La predisposición genética, entre otros factores, posee un papel importante en el desarrollo de la enfermedad. Estudios previos han demostrado que el antígeno leucocitario humano (HLA), HLA-DR15 y HLA- DR4, se asocian con mayor riesgo de presentarla, mientras que el HLA-DR1 y HLA-DR7 han demostrado ser factor de protección frente a su desarrollo.Describimos el primer caso de dos hermanos no gemelos con EMBG con tipaje HLA idéntico, con factor de riesgo HLA-DR4 y factor de protección HLA-DR7. Planteamos la importancia de analizar el tipaje de histocompatibilidad en hermanos de pacientes con EMBG, para determinar el grado de susceptibilidad genética y plantear en ellos un seguimiento estrecho, con el objetivo de lograr un diagnóstico y tratamiento precoces en caso de presentar la enfermedad. (AU)
Anti-glomerular basement membrane disease (AGBM) is an autoinmune disorder characterized by the presence of anti-glomerular basement membrane (anti-GBM) antibodies, alveolar hemorrhage, necrotizing glomerulonephritis, and linear deposition of immunoglobulins through direct inmunofluorescence. Genetic predisposition, among other factors, plays an important role in the development of the disease. Previous studies have shown that HLA-DR15 and HLA-DR4 increase the risk of presenting it, while HLA-DR1 and HLA-DR7 protect against its development.We describe the first case of two non-twin siblings with AGBM and identical HLA, with HLA-DR4 as risk factor and HLA-DR7 as protection factor. We propose the importance of analyzing HLA in siblings of patients with AGBM, to determine the degree of genetic susceptibility and to carry out a close follow-up on them, with the aim of achieving an early diagnosis and treatment in case of presenting the disease. (AU)
Subject(s)
Humans , Male , Female , Young Adult , Anti-Glomerular Basement Membrane Disease , Genetic Predisposition to Disease , HLA-DR1 Antigen , HLA-DR4 Antigen , HLA-DR7 AntigenABSTRACT
Anti glomerular basement membrane disease (AGBM) is an autoinmune disorder characterised by the presence of anti-glomerular basement membrane (Anti-GBM) antibodies, alveolar hemorrhage, necrotizing glomerulonephritis, and linear deposition of immunoglobulins through direct inmunofluorescence. Genetic predisposition, among other factors, plays an important role in the development of the disease. Previous studies have shown that HLA-DR15 and HLA-DR4 increase the risk of presenting it, while HLA-DR1 and HLA-DR7 protect against its development. We describe the first case of two non-twin siblings with AGBM and identical HLA, with HLA-DR4 as risk factor and HLA-DR7 as protection factor. We propose the importance of analysing HLA in siblings of patients with AGBM, to determine the degree of genetic susceptibility and to carry out a close follow-up on them, with the aim of achieving an early diagnosis and treatment in case of presenting the disease.
Subject(s)
Anti-Glomerular Basement Membrane Disease , Glomerulonephritis , Humans , Anti-Glomerular Basement Membrane Disease/diagnosis , HLA-DR7 Antigen , HLA-DR4 Antigen , SiblingsABSTRACT
Anti-glomerular basement membrane disease (AGBM) is an autoinmune disorder characterized by the presence of anti-glomerular basement membrane (anti-GBM) antibodies, alveolar hemorrhage, necrotizing glomerulonephritis, and linear deposition of immunoglobulins through direct inmunofluorescence. Genetic predisposition, among other factors, plays an important role in the development of the disease. Previous studies have shown that HLA-DR15 and HLA-DR4 increase the risk of presenting it, while HLA-DR1 and HLA-DR7 protect against its development. We describe the first case of two non-twin siblings with AGBM and identical HLA, with HLA-DR4 as risk factor and HLA-DR7 as protection factor. We propose the importance of analyzing HLA in siblings of patients with AGBM, to determine the degree of genetic susceptibility and to carry out a close follow-up on them, with the aim of achieving an early diagnosis and treatment in case of presenting the disease.
ABSTRACT
INTRODUCTION: Chlorambucil is an alkylating agent used in combination with prednisolone for the treatment of idiopathic membranous nephropathy. Although chlorambucil is generally well-tolerated, it is a myelosuppresive drug that can cause several infections. CASE PRESENTATION: We report the case of an 81-year-old Caucasian male presenting with idiopathic membranous nephropathy who developed fever, cough, dyspnea, pulmonary infiltrates, and abdominal pain shortly after the initiation of treatment with chlorambucil and corticosteroids for nephropathy. Virology tests for infectious diseases revealed a recent cytomegalovirus infection. Antiviral treatment (ganciclovir) resulted in full remission. CONCLUSIONS: Cytomegalovirus infection should be considered in the differential diagnosis of respiratory symptoms and pulmonary infiltrates in patients treated with chlorambucil for nephrotic syndrome.
Subject(s)
Alkylating Agents/adverse effects , Chlorambucil/adverse effects , Cytomegalovirus Infections/chemically induced , Aged, 80 and over , Alkylating Agents/therapeutic use , Chlorambucil/therapeutic use , Cytomegalovirus Infections/diagnosis , Glomerulonephritis, Membranous/drug therapy , Humans , MaleABSTRACT
Las patologías reumatológicas, y en primer lugar la artritis reumatoidea (AR), siguen siendo unas de las principales causas de amiloidosis secundaria. La aparición de agentes biológicos como el adalimumab en el tratamiento precoz de la AR puede ser una alternativa eficaz para frenar el desarrollo y la progresión de la amiloidosis secundaria. No todos los pacientes responderán igual al tratamiento; debemos considerar la comorbilidad asociada, los factores de mal pronóstico para predecir la repuesta terapéutica y los posibles efectos adversos. Dentro de los efectos adversos de las terapias biológicas, hay que destacar el aumento de la tasa de infecciones letales y cuadros de insuficiencia cardíaca. Presentamos dos casos clínicos con amiloidosis renal secundaria a AR que han seguido un curso clínico diferente: nuestro primer caso tuvo una buena repuesta al adalimumab, mientras que el segundo caso evolucionó desfavorablemente después del inicio del tratamiento, falleciendo por complicaciones cardiovasculares (AU)
Rheumatological diseases and, firstly, rheumatoid arthritis (RA) remain a major cause of secondary amyloidosis. The emergence of biological agents such as adalimumab in the early treatment of RA can be an effective alternative to stop the development and progression of secondary amyloidosis. Not all patients will respond the same way to treatment; we must consider associated comorbidity, the poor prognosis factors for predicting therapeutic response and possible adverse effects. In the adverse effects of biological therapies, there has been an increase in the rate of lethal infections and congestive heart failure. We present two cases with renal amyloidosis secondary to RA who had a different clinical course: our 1st case had a good response to Adalimumab while the 2nd case evolved unfavourably after treatment, and died from cardiovascular complications (AU)
Subject(s)
Humans , Female , Middle Aged , Aged , Arthritis, Rheumatoid/complications , Amyloidosis/drug therapy , Antibodies, Monoclonal/therapeutic use , Amyloidosis/etiology , Risk Factors , Biological TherapyABSTRACT
Rheumatological diseases and, firstly, rheumatoid arthritis (RA) remain a major cause of secondary amyloidosis. The emergence of biological agents such as adalimumab in the early treatment of RA can be an effective alternative to stop the development and progression of secondary amyloidosis. Not all patients will respond the same way to treatment; we must consider associated comorbidity, the poor prognosis factors for predicting therapeutic response and possible adverse effects. In the adverse effects of biological therapies, there has been an increase in the rate of lethal infections and congestive heart failure. We present two cases with renal amyloidosis secondary to RA who had a different clinical course: our 1st case had a good response to Adalimumab while the 2nd case evolved unfavourably after treatment, and died from cardiovascular complications.
Subject(s)
Amyloidosis/drug therapy , Amyloidosis/etiology , Antibodies, Monoclonal, Humanized/therapeutic use , Antirheumatic Agents/therapeutic use , Arthritis, Rheumatoid/complications , Kidney Diseases/drug therapy , Kidney Diseases/etiology , Adalimumab , Aged , Female , Humans , Middle AgedABSTRACT
BACKGROUND: In chronic kidney disease (CKD) patients, the ability to excrete a phosphate load is impaired. Compensatory increase in parathyroid hormone (PTH) and fibroblast growth factor 23 (FGF23) promote phosphaturia. Serum FGF23 concentration is considered an early biomarker of excess phosphate load and high levels of FGF23 have been associated with increased mortality. In the present study, we have evaluated the changes in plasma FGF23 after treatment with the phosphate binder lanthanum carbonate in patients with CKD-3 and a normal serum phosphate concentration. METHODS: Eighteen Caucasian CKD Stage 3a/3b patients with serum phosphate <4.5 mg/dL were recruited in a prospective longitudinal open-label study. Patients received a 4-week period of standardized phosphorus-restricted diet containing 0.8 g/Kg/day protein. Thereafter, the same diet was maintained and patients received lanthanum carbonate (750 mg with the three main meals) for 4 weeks. RESULTS: No significant changes were observed in serum phosphate, however, lanthanum carbonate significantly decreased urinary excretion of phosphate and fractional excretion of phosphate (P < 0.004). This was accompanied by a significant decrease in carboxyterminal FGF23 (median percent change from baseline -21.8% (interquartile range -4.5, -30%), P = 0.025). No changes were observed in PTH. CONCLUSIONS: In conclusion, lanthanum carbonate reduced phosphate load, as assessed by urinary phosphate excretion, and also reduced plasma FGF23 in CKD-3 patients. This occurs in the presence of unchanged normal serum phosphate levels.
