[Co-inheritance of autosomal dominant polycystic kidney disease and sickle cell trait in African Americans]. / Co-herencia de poliquistosis renal autosómica dominante y hemoglobina con rasgo falciforme en afroamericanos.

BACKGROUND: Macroscopic haematuria secondary to renal cyst rupture is a frequent complication in autosomal dominant polycystic kidney disease (ADPKD). Sickle-cell disease is an autosomal recessive haemoglobinopathy that involves a qualitative anomaly of haemoglobin due to substitution of valine for the glutamic acid in the sixth position of 3-globin gene on the short arm of chromosome 11. For the full disease to be manifested, this mutation must be present on both inherited alleles. The severity of the disease is proportional to the quantity of haemoglobin S (Hb S) in the red cells; sickle-cell trait (Hb S <50%) and homozygous sickle-cell disease (Hb S >75%). In sickle-cell disease, the abnormal Hb S loses its rheological characteristics and is responsible of the various systemic manifestations including those of the kidney, such as macroscopic haematuria secondary to papilar necrosis. Despite the generally benign nature of the sickle-cell trait, several potentially serious complications have been described. Metabolic or environmental changes such as hypoxia, acidosis, dehydration, hyperosmolality or hyperthermia may transform silent sickle-cell trait into a syndrome resembling sickle-cell disease with vaso-occlusive crisis due to an accumulation of low deformable red blood cells in the microcirculation originating haematuria from papilar necrosis. On the other hand, it has been demonstrated an earlier onset of end-stage renal disease (ESRD), in blacks with ADPKD and sickle-cell trait when compared with blacks with ADPKD without the trait. PATIENTS AND METHODS: We studied 2 african-american families (4 patients) which presented with both ADPKD and sickle-cell trait (Hb S <50%). The diagnosis of sickle-cell trait was confirmed by haemoglobin electrophoresis. The renal volume was measured by magnetic resonance imaging (MRI). RESULTS: The proband subject in family 1 presented frequent haematuria episodes, associated to increase of renal volume, developed very early ESRD and was dialyzed at the age of 39 years. The other 3 patients in family 2 presented different degree of renal function. CONCLUSIONS: The presence of sickle haemoglobin should be determined in african-american and west-african patients with ADPKD because it is an important prognostic factor. Coherence of sickle-cell trait may have influence on ADPKD evolution to ESRD and other complications, such as cystic haemorrhages. MRI can identify intracystic haemorrhage and permit renal volume measure.

Co–herencia de poliquistosis renal autosómica dominante y hemoglobina con rasgo falciforme en afroamericanos / Co–inheritance of autosomal dominant polycystic kidney disease and sickle cell trait in African Americans

Antecedentes: La hematuria macroscópica derivada de la rotura de quistes renales es una manifestación habitual en la poliquistosis renal autosómica dominante (PQRAD). La enfermedad por células falciformes es una anomalía de la hemoglobina, que se hereda con carácter autosómico recesivo, consistente en la sustitución de la valina por el ácido glutámico en la posición 6 del gen de la 3–globina en el brazo corto del cromosoma 11. La gravedad de la enfermedad es proporcional a la cantidad de hemoglobina S (Hb S) en los hematíes: los heterocigotos con hemoglobina con rasgo falciforme (Hb S <50%) y los homocigotos con enfermedad por células falciformes (Hb S >75%). La presencia de hemoglobina con rasgo falciforme (Hb AS) se acompaña de manifestaciones renales, especialmente hematuria, y la necrosis papilar es la causa más frecuente de hematuria macroscópica en los pacientes heterocigotos portadores de esta hemoglobinopatía. La asociación de estas dos enfermedades hereditarias, PQRAD y hemoglobina con rasgo falciforme, se ha comunicado raramente. Se ha sugerido que los pacientes con PQRAD y hemoglobina con rasgo falciforme podían desarrollar precozmente insuficiencia renal crónica (IRC). Recientemente, se ha comunicado que la hemoglobina con rasgo falciforme es un factor de riesgo predisponente para el desarrollo de enfermedad renal crónica en afroamericanos. Pacientes y métodos: Se estudiaron 2 familias de origen afroamericano (4 pacientes) que co–heredaron la PQRAD y la hemoglobina con rasgo falciforme (heterocigotos). El diagnóstico de hemoglobina falciforme (Hb S) se realizó por electroforesis de la hemoglobina. El volumen renal se midió mediante resonancia magnética (RM). Resultados: La paciente índice, perteneciente a una de las familias, presentó episodios de hematuria macroscópica recidivantes, asociados (..) (AU)

Background: Macroscopic haematuria secondary to renal cyst rupture is a frequent complication in autosomal dominant polycystic kidney disease (ADPKD). Sickle–cell disease is an autosomal recessive haemoglobinopathy that involves a qualitative anomaly of haemoglobin due to substitution of valine for the glutamic acid in the sixth position of 3–globin gene on the short arm of chromosome 11. For the full disease to be manifested, this mutation must be present on both inherited alleles. The severity of the disease is proportional to the quantity of haemoglobin S (Hb S) in the red cells; sickle–cell trait (Hb S <50%) and homozygous sickle–cell disease (Hb S >75%). In sickle–cell disease, the abnormal Hb S loses its rheological characteristics and is responsible of the various systemic manifestations including those of the kidney, such as macroscopic haematuria secondary to papilar necrosis. Despite the generally benign nature of the sickle–cell trait, several potentially serious complications have been described. Metabolic or environmental changes such as hypoxia, acidosis, dehydration, hyperosmolality or hyperthermia may transform silent sickle–cell trait into a syndrome resembling sickle–cell disease with vaso–occlusive crisis due to an accumulation of low deformable red blood cells in the microcirculation originating haematuria from papilar necrosis. On the other hand, it has been demonstrated an earlier onset of end–stage renal disease (ESRD), in blacks with ADPKD and sickle–cell trait when compared with blacks with ADPKD without the trait. Patients and methods: We studied 2 african–american families (4 patients) which presented with both ADPKD and sickle–cell trait (Hb S <50%). The diagnosis of sickle–cell trait was confirmed by haemoglobin electrophoresis. The renal volume was measured by magnetic resonance imaging (..) (AU)

Tratamiento con hemoperfusión prolongada en la intoxicación aguda por carbamazepina / Extended hemoperfusion in the treatment of acute carbamazepine intoxication

La intoxicación aguda por carbamazepina en los intentosautolíticos es un problema clínico bastante común que puede dar lugar a coma, depresión respiratoria, arritmias, inestabilidad hemodinámica y muerte. El fármaco tiene un peso molecular relativamente elevado, un volumen de distribución moderadamente grande y una intensa fijación a las proteínas. En caso de sobredosis, estas características farmacocinéticas hacen su eliminación extracorpórea difícil, por lo que la experiencia publicada con hemoperfusión o hemodiálisis presenta resultados variables. Se presenta un caso de intoxicación aguda por carbamazepina que fue tratado exitosamente con medidas de soporte general y una sesión de hemoperfusión con carbón activado. Esta técnica produjo una extracción considerable del fármaco, mejorando rápidamente los signos clínicos de intoxicación. Basados en la experiencia con esta paciente y en la revisión de otros casos publicados, concluimos que en la intoxicación aguda por carbamazepina el tratamiento precoz con hemoperfusión prolongada debe considerarse de elección (AU)

Carbamazepine is used in the treatment of epilepsy, and also prescribed in neuralgic pain syndromes, and certain affective disorders. Carbamazepine intoxication with suicide attempt is a relatively common clinical problem that can result in coma, respiratory depression, arrhythmia, hemodynamic instability and death. The drug's relatively high molecular weight, elevated volume of distribution and intense protein-binding render it difficult to extracorporeal removal, but published experience with hemoperfusion or hemodialysis present variable results. We describe a case report involving carbamazepine intoxication who was successfully treated with charcoal hemoperfusion. With this treatment the half-life of carbamazepine was reduced with rapid lowering of carbamazepine levels and clinical improvement. Based on our experience in this patient and a review of previously reported cases, extended charcoal hemoperfusion should be considered for serious carbamazepine intoxication because free as well as bound drug fractions are eliminated via this technique (AU)

[Extended hemoperfusion in the treatment of acute carbamazepine intoxication]. / Tratamiento con hemoperfusión prolongada en la intoxicación aguda por carbamazepina.

Carbamazepine is used in the treatment of epilepsy, and also prescribed in neuralgic pain syndromes, and certain affective disorders. Carbamazepine intoxication with suicide attempt is a relatively common clinical problem that can result in coma, respiratory depression, arrhythmia, hemodynamic instability and death. The drug's relatively high molecular weight, elevated volume of distribution and intense protein-binding render it difficult to extracorporeal removal, but published experience with hemoperfusion or hemodialysis present variable results. We describe a case report involving carbamazepine intoxication who was successfully treated with charcoal hemoperfusion. With this treatment the half-life of carbamazepine was reduced with rapid lowering of carbamazepine levels and clinical improvement. Based on our experience in this patient and a review of previously reported cases, extended charcoal hemoperfusion should be considered for serious carbamazepine intoxication because free as well as bound drug fractions are eliminated via this technique.