RESUMO
Introducción: La esferocitosis hereditaria (ESH) es una anemia hemolítica de observación frecuente, en la cual existen defectos cualitativos o cuantitativos de algunas proteínas de la membrana eritrocitaria que llevan a la formación de hematíes de forma esférica, osmóticamente frágiles, que son atrapados de formas selectiva y destruidos en el bazo, con incidencia variable y más frecuente en pacientes con descendencia europea. Objetivo: Describir la conducta clínica y anestesiológica de un paciente pediátrico con diagnóstico de micro esferocitosis hereditaria programado de forma electiva para procedimiento quirúrgico. Desarrollo: Se presenta un caso clínico de un paciente escolar con diagnóstico de micro esferocitosis hereditaria al cual se le realizó esplenectomía total electiva convencional. Con principal signo dolor a la palpación en hipocondrio izquierdo. Se condujo con anestesia total intravenosa con buenos resultados clínicos quirúrgicos, utilizando propofol a razón de 3 mcg/mL y ketamina a 0,2 mg/mL. La estrategia estuvo basada en cinco aspectos claves: evitar la hipoxia, la hipotermia, la acidosis, reducir la pérdida de sangre, así como un correcto control del dolor postoperatorio. Asociado a lo anterior es indispensable una estrecha vigilancia ya que estos pacientes pueden manifestar crisis hemolítica y aplásica. Conclusiones: El manejo perioperatorio del paciente con esferocitosis hereditaria depende de la severidad del cuadro clínico, de la anemia y su repercusión y del grado de hemólisis. La anestesia total intravenosa es una técnica segura para el tratamiento de pacientes con esferocitosis hereditaria(AU)
Introduction: Hereditary spherocytosis (HS) is a hemolytic anemia of frequent occurrence, in which there are qualitative or quantitative defects of some erythrocyte membrane proteins that lead to the formation of sphere-shaped red blood cells, which are osmotically fragile, and that are selectively trapped and destroyed in the spleen, with variable and more frequent incidence in patients with European descent. Objective: To describe the clinical and anesthesiological behavior of a pediatric patient with a diagnosis of hereditary microspherocytosis electively programmed for a surgical procedure. Development: A clinical case of a school-age patient with a diagnosis of hereditary microspherocytosis was presented. The patient underwent conventional elective total splenectomy. Pain was as the main sign on palpation to the left hypochondrium. The case was conducted with total intravenous anesthesia, with good surgical clinical results, using propofol at a rate of 3 mcg/mL and ketamine at 0.2 mg/mL. The strategy was based on five key aspects: avoid hypoxia, hypothermia, acidosis, reduce blood loss, as well as proper control of postoperative pain. Associated with the above-mentioned, close monitoring is essential, as these patients may manifest hemolytic and aplastic crisis. Conclusions: The perioperative management of the patient with hereditary spherocytosis depends on the severity of the clinical status, the anemia and its repercussion, and the degree of hemolysis. Total intravenous anesthesia is a safe technique for the treatment of patients with hereditary spherocytosis(AU)
Assuntos
Humanos , Masculino , Criança , Esferocitose Hereditária/cirurgia , Esferocitose Hereditária/diagnóstico , Esplenectomia/métodos , Anestesia Intravenosa/métodosRESUMO
Aquaporin-1 (AQP1) is the membrane water channel responsible for changes in erythrocyte volume in response to the tonicity of the medium. As the aberrant distribution of proteins in hereditary spherocytosis (HS) generates deficiencies of proteins other than those codified by the mutated gene, we postulated that AQP1 expression might be impaired in spherocytes. AQP1 expression was evaluated through flow cytometry in 5 normal controls, 1 autoimmune hemolytic anemia, 10 HS (2 mild, 3 moderate, 2 severe, and 3 splenectomized), and 3 silent carriers. The effect of AQP1 inhibitors was evaluated through water flow-based tests: osmotic fragility and hypertonic cryohemolysis. Serum osmolality was measured in 20 normal controls and 13 HS. The effect of erythropoietin (Epo) on AQP1 expression was determined in cultures of erythroleukemia UT-7 cells, dependent on Epo to survive. Independent of erythrocyte size, HS patients showed a lower content of AQP1 in erythrocyte membranes which correlated with the severity of the disease. Accordingly, red blood cells from HS subjects were less sensitive to cryohemolysis than normal erythrocytes after inhibition of the AQP1 water channel. A lower serum osmolality in HS with respect to normal controls suggests alterations during reticulocyte remodeling. The decreased AQP1 expression could contribute to explain variable degrees of anemia in hereditary spherocytosis. The finding of AQP1 expression induced by Epo in a model of erythroid cells may be interpreted as a mechanism to restore the balance of red cell water fluxes.
Assuntos
Aquaporina 1/biossíntese , Eritrócitos/metabolismo , Regulação da Expressão Gênica , Esferocitose Hereditária/sangue , Adolescente , Adulto , Anemia Hemolítica Autoimune/sangue , Anemia Hemolítica Autoimune/genética , Aquaporina 1/sangue , Aquaporina 1/genética , Transporte Biológico , Água Corporal , Linhagem Celular , Criança , Pré-Escolar , Membrana Eritrocítica/metabolismo , Eritrócitos/patologia , Eritropoetina/farmacologia , Hemólise , Heterozigoto , Humanos , Leucemia Linfocítica Crônica de Células B/sangue , Pessoa de Meia-Idade , Concentração Osmolar , Fragilidade Osmótica , Esferocitose Hereditária/genética , Esferocitose Hereditária/cirurgia , EsplenectomiaRESUMO
Microespherocitosis is the most common hereditary anemia. Clinically it is characterized for hemolytic anemia, with jaundice and transfusion requirements, symptoms can be more intense in newborn period. With the purpose of review this disease, we studied the patients of the pediatric hematology policlinic in Roberto del Río Hospital, controlled between 1990 to 2005, we check the patient's records and registered the clinic and family background evaluating through the Eber's severity classification the indication of splenectomy in each case. We registered 44 patients. The 68.2 percent) had family background. The 11.3 percent presented symptoms during the newborn period, in which 91.2 percent had jaundice. The 38.6 percent> needed at least one transfusion after the newborn period. The Eber's severity classification was different according to the variable evaluated, which made its application difficult. Only one of the nine splenectomized patient had this indication. From the year 2000, the inquiry of the disease as well as the correct indication of splenectomy has improved. This coincides with the appearance of the Eber's publication about this disease. Conclusion: Microespherocitosis usually appears in the newborn period as jaundice and most patients have familial antecedents. Eber's severity classification and molecular study allows a rational splenectomy indication and predicts the disease evolution.
La microesferocitosis es la anemia hemolítica más frecuente en pediatría. Se caracteriza por asociarse a ictericia y requerir transfusiones, y la sintomatología puede ser más acentuada en período de recién nacido. Objetivo: Caracterizar la Microesferocitosis en una población pediátrica de un Hospital público de Santiago, Chile. Pacientes y Método: Revisión retrospectiva de los casos de Microesferocitosis atendidos en el Policlínico de Hematología Infantil del Hospital Roberto del Río, durante el período 1990-2005. Se registraron los antecedentes clínicos y familiares, la severidad mediante la clasificación de Eber, y la indicación de esplenectomía. Resultados: Se registraron 44 pacientes. El 68,2 por ciento> tenían antecedentes familiares. El 11,3 por ciento presentó síntomas durante el período neonatal de los cuales el 91,2 por ciento correspondió a ictericia. El 38,6 por ciento> requirió de al menos una transfusión después del período neonatal. La clasificación de severidad de Eber fue distinta según la variable a evaluar lo que dificultó su aplicación. Sin embargo, sólo 1 de los 9 esplenectomizados tenían esta indicación. Desde el año 2000 mejoró tanto la pesquisa de esta enfermedad como la correcta indicación de esplenectomía en cada caso lo que coincide con la publicación de Eber sobre este tema. Conclusión: La microesferocitosis se manifiesta habitualmente en el período perinatal y la mayoría tiene antecedentes familiares. La clasificación de severidad y el estudio molecular permiten racionalizar la indicación de esplenectomía y predecir la evolución.
Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Esferocitose Hereditária/cirurgia , Esferocitose Hereditária/patologia , Transfusão de Sangue , Esferocitose Hereditária/terapia , Icterícia/etiologia , Estudos Retrospectivos , Índice de Gravidade de Doença , EsplenectomiaAssuntos
Assistência Odontológica para Doentes Crônicos , Má Oclusão Classe II de Angle/etiologia , Esferocitose Hereditária/complicações , Cefalometria , Criança , Aparelhos de Tração Extrabucal , Ossos Faciais/anormalidades , Humanos , Masculino , Má Oclusão Classe II de Angle/terapia , Esferocitose Hereditária/cirurgia , EsplenectomiaRESUMO
UNLABELLED: Splenectomy is the best available treatment for severe forms of hereditary spherocytosis, idiopathic thrombocytopenic purpura, and other hematologic conditions when these prove refractory to conservative management. It has been employed for many decades with low mortality and favorable remission rates. The use of laparoscopic splenectomy in recent years has been rapidly and even enthusiastically adopted in this field. However, the exact role of laparoscopic versus open surgery for hematologic diseases is still debated. In this study of 58 adult patients, laparoscopic procedures were compared with conventional splenectomies for similar indications. METHODS: All patients were operated on within an 8-year period. Subjects underwent similar procedures under the supervision of the same surgical school and were compared regarding age, gender, body mass index, and diagnosis. Laparoscopically managed cases (Group I, n = 30) were prospectively followed according to a written protocol, whereas the same investigation was retrospectively done with regard to traditional laparotomy (Group II, n = 28). Methods included general and demographic findings, duration and technical steps of operation, blood loss, weight of spleen, need for conversion (in minimally invasive subjects), intraoperative and postoperative complications, time until realimentation, postoperative hospitalization, mortality, and late follow-up including recurrence rate. RESULTS: Idiopathic thrombocytopenic purpura was the surgical indication in over 50% of the patients in both groups, but familial spherocytosis, thalassemia, myelodysplasia, and lymphomas were also represented in this series. Laparoscopic procedures took more time to perform (P = 0.004), and postoperative hospitalization was 2 days shorter, but this difference was not statistically significant. Postoperative hematocrit and volume of blood transfusions was equivalent, although the laparoscopic cases had a somewhat lower preoperative hematocrit (NS) and displayed better recovery for this measurement (P = 0.03). More patients in Group I were able to accept oral food on the first day than subjects undergoing conventional operations (P < 0.05). Relatively few conversions were necessary during the minimally invasive surgeries (13.3%), and postoperative early and late complications as well as recurrences occurred in similar proportions. Also, the mean weight of the spleen was not statistically different between the groups, although there was a marked numerical tendency toward larger masses in conventional procedures. No spleen in Group I exceeded 2.0 kg, whereas in Group II values up to 4.0 kg occurred, and the mean weight was 50% higher in the latter group. CONCLUSIONS: 1) Minimally invasive splenectomy was essentially comparable to open surgery with regard to safety, efficacy, and late results; 2) Advantages concerning shorter postoperative hospitalization could not be shown, despite earlier food intake and a non-significant tendency toward earlier discharge; 3) This new modality should be considered an option in cases of hematologic conditions whenever the spleen is not hugely enlarged.
Assuntos
Doenças Hematológicas/cirurgia , Laparoscopia/normas , Esplenectomia/normas , Adolescente , Adulto , Feminino , Humanos , Masculino , Procedimentos Cirúrgicos Minimamente Invasivos , Seleção de Pacientes , Púrpura Trombocitopênica Idiopática/cirurgia , Estudos Retrospectivos , Esferocitose Hereditária/cirurgiaRESUMO
Indolent leg ulcers are a rare complication found in patients with hereditary spherocytosis. We report a 13-year-old girl with hereditary spherocytosis who developed a chronic painful ulcer on the medial malleolus. All other etiologies were ruled out. Nine months after splenectomy the ulcer healed completely and the symptoms disappeared. We discuss and review this unusual entity in children.
Assuntos
Úlcera da Perna/etiologia , Esferocitose Hereditária/complicações , Adolescente , Feminino , Humanos , Esferocitose Hereditária/cirurgia , EsplenectomiaRESUMO
Splenectomy is the best available treatment for severe forms of hereditary spherocytosis, idiopathic thrombocytopenic purpura, and other hematologic conditions when these prove refractory to conservative management. It has been employed for many decades with low mortality and favorable remission rates. The use of laparoscopic splenectomy in recent years has been rapidly and even enthusiastically adopted in this field. However, the exact role of laparoscopic versus open surgery for hematologic diseases is still debated. In this study of 58 adult patients, laparoscopic procedures were compared with conventional splenectomies for similar indications. METHODS: All patients were operated on within an 8-year period. Subjects underwent similar procedures under the supervision of the same surgical school and were compared regarding age, gender, body mass index, and diagnosis. Laparoscopically managed cases (Group I, n = 30) were prospectively followed according to a written protocol, whereas the same investigation was retrospectively done with regard to traditional laparotomy (Group II, n = 28). Methods included general and demographic findings, duration and technical steps of operation, blood loss, weight of spleen, need for conversion (in minimally invasive subjects), intraoperative and postoperative complications, time until realimentation, postoperative hospitalization, mortality, and late follow-up including recurrence rate. RESULTS: Idiopathic thrombocytopenic purpura was the surgical indication in over 50 percent of the patients in both groups, but familial spherocytosis, thalassemia, myelodysplasia, and lymphomas were also represented in this series. Laparoscopic procedures took more time to perform (P = 0.004), and postoperative hospitalization was 2 days shorter, but this difference was not statistically significant. Postoperative hematocrit and volume of blood transfusions was equivalent, although the laparoscopic cases had a somewhat lower preoperative hematocrit (NS) and displayed better recovery for this measurement (P = 0.03). More patients in Group I were able to accept oral food on the first day than subjects undergoing conventional operations (P < 0.05). Relatively few conversions were necessary during the minimally invasive surgeries (13.3 percent), and postoperative early and late complications as well as recurrences occurred in similar proportions. Also, the mean weight of the spleen was not statistically different between the groups,...
Assuntos
Adolescente , Adulto , Humanos , Masculino , Feminino , Doenças Hematológicas/cirurgia , Laparoscopia/normas , Esplenectomia/normas , Procedimentos Cirúrgicos Minimamente Invasivos , Seleção de Pacientes , Púrpura Trombocitopênica Idiopática/cirurgia , Estudos Retrospectivos , Esferocitose Hereditária/cirurgiaRESUMO
OBJECTIVES: To evaluate the hematological and clinical response to partial splenectomy in a group of children with hereditary spherocytosis. MATERIAL AND METHODS: We analyzed the main hematological and clinical features in 13 patients with hereditary spherocytosis submitted to partial splenectomy. The diagnosis of the disease and the hematological studies was made according to standard methods. To establish the inheritance pattern we also studied both parents. During the surgical procedure the upper two thirds of the spleen were removed and the lower pole was preserved. We use prophylactic penicillin (250 mg twice a day) during 3 years. RESULTS: The diagnosis of the disease was made during the first year of life in 11 patients, 76.9% had neonatal hyperbilirrubinemia, 53.8% showed hepatomegaly and in 69.2% we observed splenomegaly. 84.6% received blood transfusion. The hemoglobin level was significantly increased (p = 0.04) and the reticulocytes significantly diminished (p = 0.01) after splenectomy. No hemolytic crises, blood cell transfusion requirement neither infection was observed after surgery. CONCLUSIONS: Although the number of patients and the post-surgical follow-up is reduced, the hematological recovery observed in our cases suggest that partial splenectomy is a beneficial surgical procedure for the treatment of the typical and severe form of hereditary spherocytosis.
Assuntos
Esferocitose Hereditária/cirurgia , Esplenectomia/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , MasculinoRESUMO
Objetivos. Evaluar la respuesta hematológica y clínica a la esplenectomía parcial en un grupo de niños con esferocitosis hereditaria. Material y métodos. Se analizaron los principales hallazgos hematológicos y clínicos de 13 pacientes con esferocitosis hereditaria a los cuales se les realizó esplenectomía parcial. El diagnóstico de la enfermedad y los estudios hematológicos se efectuaron por las técnicas habituales. Para precisar el patrón de herencia se hizo también el estudio a los padres. La resección del bazo se realizó extirpando los dos tercios superiores del órgano, dejando el polo inferior intacto. A todos los pacientes se le administró fenoximetilpenicilina profiláctica a dosis de 250 mg dos veces al día por tres años. Resultados. El diagnóstico de la enfermedad se realizó en el primer año de vida en 11 casos. El 76.9 por ciento de los niños comenzó con ictericia neonatal. El 53.8 por ciento presentaron hepatomegalia y el 69.2 por ciento esplenomegalia. El 84.6 por ciento tuvieron requerimientos transfusionales. Las cifras de hemoglobina aumentaron significativamente y los reticulocitos disminuyeron después de la esplenectomía. Ningún paciente ha tenido crisis hemolíticas, requerimientos transfusionales ni infecciones después de la intervención quirúrgica. Conclusión. Aunque el número de pacientes es pequeño y el tiempo de evolución es corto, la recuperación hematológica observada en nuestros casos sugiere que la esplenectomía parcial es un proceder quirúrgico beneficioso para el tratamiento de la esferocitosis hereditaria típica o severa.
Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Esferocitose Hereditária/cirurgia , Esplenectomia , Anemia Hemolítica Congênita/terapia , Icterícia Neonatal/etiologiaRESUMO
We present a case report of laparoscopic splenectomy in two patients with congenital spherocytosis. A 23-year-old man and a 25-year-old woman with splenomegaly due to congenital spherocytosis underwent laparoscopic splenectomy. Their postoperative course was uncomplicated and they were discharged on the second and fourth postoperative day, respectively.
Assuntos
Laparoscopia/métodos , Esferocitose Hereditária/cirurgia , Esplenectomia/métodos , Esplenomegalia/cirurgia , Adulto , Feminino , Humanos , Masculino , Esferocitose Hereditária/complicações , Esplenomegalia/etiologia , Gravação em Vídeo/métodosRESUMO
Se hace una breve reseña sobre los alcances de la cirugía laparoscópica y se comenta la observación de una paciente portadora de una esferocitosis a la cual se le practicó una colecistectomía y esplenectomía simultáneas con ese procedimiento y que presentó una seria complicación postoperatoria por la que debió ser reoperada pero que finalmente evolucionó bien
Assuntos
Humanos , Feminino , Adulto , Colecistectomia , Laparoscopia , Esferocitose Hereditária/cirurgia , Colecistectomia/efeitos adversos , Laparoscopia/efeitos adversos , Esferocitose Hereditária/complicações , Esplenectomia , Esplenectomia/instrumentaçãoRESUMO
Se hace una breve reseña sobre los alcances de la cirugía laparoscópica y se comenta la observación de una paciente portadora de una esferocitosis a la cual se le practicó una colecistectomía y esplenectomía simultáneas con ese procedimiento y que presentó una seria complicación postoperatoria por la que debió ser reoperada pero que finalmente evolucionó bien
Assuntos
Humanos , Feminino , Adulto , Esferocitose Hereditária/cirurgia , Colecistectomia/métodos , Laparoscopia/métodos , Esplenectomia/instrumentação , Esplenectomia/métodos , Laparoscopia/efeitos adversos , Colecistectomia/efeitos adversos , Esferocitose Hereditária/complicaçõesRESUMO
Tres anos apos esplenectomia total indicada para tratamento de uma paciente portadora de anemia esferocitica se instalou quadro compativel com recidiva intensa de anemia. A investigacao clinica revelou presenca de dois bacos acessorios com 3,5 e 4 cm de diametro localizados ao ultra-som e ao mapeamento com tecnecio. Com estes achados indicou-se laparotomia que confirmou presenca dos bacos acessorios e a remocao destes normalizou quadro hematologico. O desenvolvimento esplenico, a partir da quinta semana de vida intra-uterina ao nivel do mesogastrio dorsal, com a formacao do baco embrionario multilobulado justifica a possibilidade da presenca de bacos acessorios, se nao ocorrer processo de coalescencia total dos lobulos esplenicos primitivos. Estes fatos alertam e orientam a conduta intra-operatoria que o cirurgiao deve buscar quando da realizacao de esplenectomia para o tratamento da doenca hemolitica, se recidivas decorrentes do funcionamento de bacos acessorios queiram ser evitadas.
Assuntos
Adulto , Humanos , Feminino , Esferocitose Hereditária/complicações , Recidiva , Esplenectomia/efeitos adversos , Baço/patologia , Transfusão de Sangue , Esferocitose Hereditária/cirurgiaRESUMO
A young female patient had a recurrence of severe spherocytic anemia there years after having been submitted to splenectomy. The presence of two accessory spleens with a size of 3.5 cm and 4.0 cm, was demonstrated by technetium scanning and ultrasound images. Surgical removal of these noduli resulted again in prompt recovery. The development of the spleen beings in the fifth week of intrauterine life at the dorsal mesogastrium. The lack of fusion of splenic lobuli is responsible for the occurrence of accessory spleens. A surgeon performing splenectomy for the treatment of hemolytic anemia should always search for possible existences of accessory spleens.
Assuntos
Esferocitose Hereditária/cirurgia , Baço/anormalidades , Esplenectomia , Adulto , Feminino , Humanos , Cintilografia , Recidiva , Esferocitose Hereditária/diagnóstico , Baço/diagnóstico por imagem , Baço/cirurgia , UltrassonografiaRESUMO
To determine whether stratifying hereditary spherocytosis by degree of severity could provide guidelines regarding which patients would benefit from splenectomy, we evaluated the clinical characteristics of 80 patients (63 children) and 27 healthy relatives. In addition to routine hematologic determinations, osmotic fragility, autohemolysis, erythrocyte spectrin content, and erythrocyte membrane lipid phosphorus were measured and correlated with the disease severity. Four categories were identified: (1) spherocytosis as a trait in symptom-free relatives of patients with recessively inherited disease; (2) mild and (3) moderate spherocytosis, largely observed in patients with dominantly inherited disease; and (4) severe spherocytosis, observed in only two patients, who were characterized by recessive inheritance and transfusion dependence. By the identification of carriers, a recessive mode of inheritance could be demonstrated in 20% of the families with spherocytosis. The erythrocyte spectrin concentration was normal in carriers and patients with mild spherocytosis, and was significantly reduced in the moderate and severe states of the disease. This difference was not accounted for by reduced membrane area of the cells, as measured by the phospholipid concentration per cell. We conclude that patients with mild spherocytosis usually do not require splenectomy during childhood and adolescence; patients with moderate or severe disease should have splenectomy. Patients with severe spherocytosis have a partial response to splenectomy but a considerable degree of increased hemolysis persists. Most patients with less than 80% of normal spectrin content require splenectomy.