[Congenital xerocytosis]. / Xerocitosis congénita.

Hereditary xerocytosis is a genetic disease inherited as an autosomal dominant trait and is a rare cause of hemolytic anemia. It is caused by abnormal erythrocyte membrane permeability: monovalent cation pump activity is increased and the Na/K pump cannot compensate for the K lost. As a consequence, xerocytes dehydrate, becoming rigid and sensitive to metabolic stress and oxidation. Morbility depends on the severity of the hemolytic anemia. Periodic episodes of jaundice are common during mild infections; most patients remain asymptomatic but experience mild-to-moderate hemolytic anemia, which is generally well compensated. The diagnostic clues are a markedly increased flow through the Na/K pump with a decrease in total intracellular cation content and subsequent red cell dehydration. Treatment is based on monitoring for eventual complications and careful observation during infections, which may worsen the anemia. Splenectomy is not useful and for some authors may even be contraindicated. The prognosis is generally very good. We report the case of a patient with episodes of hemolytic anemia during intercurrent infections and positive diagnostic tests for hereditary xerocytosis.

Xerocitosis congénita / Hereditary xerocytosis

La xerocitosis hereditaria es un trastorno genético de herencia autosómica dominante y constituye una causa muy poco frecuente de anemia hemolítica. Se produce por una alteración en la permeabilidad de la membrana eritrocitaria: la actividad de la bomba de cationes monovalentes está aumentada y la bomba sodio-potasio no puede compensar las pérdidas de potasio. Como consecuencia se produce la deshidratación del hematíe, haciéndolo rígido y sensible al estrés metabólico y a los oxidantes. La morbilidad de este cuadro depende del grado de anemia hemolítica que provoque. Con frecuencia existen episodios periódicos de ictericia coincidiendo con infecciones banales, la mayoría de pacientes permanecen asintomáticos con un grado entre leve y moderado de anemia hemolítica, generalmente bien compensada. El marcado incremento del flujo sodio-potasio a través de la membrana del hematíe con descenso en el contenido catiónico total intracelular y la deshidratación del hematíe son las claves diagnósticas. El tratamiento de esta enfermedad se basa en la monitorización de posibles complicaciones y en una observación cuidadosa ante infecciones que pueden dar lugar a exacerbaciones de la anemia. La esplenectomía no es útil, para algunos autores incluso podría estar contraindicada. El pronóstico es, por lo general, bueno. Presentamos el caso de un paciente con episodios de anemia hemolítica coincidiendo con infecciones intercurrentes, con las pruebas diagnósticas de xerocitosis hereditaria (AU)

Receptor sérico de transferrina en niños sanos. Valor diagnóstico en la anemia infecciosa y en la ferropénica / Serum transferrin receptor in healthy children. diagnostic yield in ferropenic and infectious anemia

Antecedentes; El receptor sérico de transferrina (RsTf) ofrece ventajas para evaluar el estado de hierro celular por no alterarse en situaciones de enfermedad aguda o crónica. Objetivo Establecer valores de referencia para nuestro laboratorio del RsTf en niños sanos, conocer la distribución de esta variable en niños con enfermedad aguda y en niños con déficit de hierro, así como evaluar el rendimiento diagnóstico del RsTf para distinguir anemia ferropénica de anemia infecciosa y de sus parámetros relacionados con la ferritina (F): cociente RsTf/F e índice RsTf-F (RsTf/log ferritina).Pacientes y métodos Análisis descriptivo transversal durante un período de 18 meses en 132 niños entre 6 meses y 16 años de edad que fueron divididos en tres grupos: sanos, con enfermedad aguda y con déficit de hierro, estudiando la distribución del RsTf, y evaluando su rendimiento diagnóstico para diferenciar la anemia ferropénica de la anemia que acompaña a enfermedad aguda. Resultados De los 132 pacientes, 30 se excluyeron por no contar con alguno de los parámetros relevantes de este estudio y 19 fueron apartados por ser portadores de rasgo talasémico. En los 30 niños sanos la media del RsTf fue 1,2 mg/l (desviación estándar [DE], 0,36); mediana 1,02 (rango intercuartílico [RIQ], 0,7-1,7). Los 32 niños con enfermedad aguda, con o sin anemia, mostraron valores de RsTf similares a los de niños sanos (p > 0,05). Los valores del RsTf fueron superiores en niños con déficit de hierro (21 niños; RsTf, M 1,67 mg/l; DE, 0,98) que en niños sanos, aunque sin significación estadística (p 0,08). Los valores más altos del RsTf correspondieron a niños con anemia ferropénica (RsTf, M 2,13 mg/l; DE, 1,14), con una diferencia estadísticamente significativa respecto a los niños sanos (p 0,04) y a los niños con ferropenia latente (niños con déficit de hierro pero sin anemia) (p 0,01).El cociente RsTf/F mostró un rendimiento diagnóstico óptimo para distinguir entre anemia ferropénica y anemia por enfermedad aguda. Con valores de este cociente superiores a 80,7 se puede sospechar como causa de la anemia la ferropenia con un valor global de la prueba de 100 por ciento (intervalo de confianza del 95 por ciento [IC 95 por ciento], 75,91-99,42). Conclusiones El RsTf puede ser de utilidad para la evaluación del estado de hierro intracelular en niños. Sus valores no se modifican durante procesos agudos y en combinación con la ferritina ofrece un rendimiento diagnóstico óptimo para distinguir anemia ferropénica de anemia infecciosa (AU)

[Serum transferrin receptor in healthy children. Diagnostic yield in ferropenic and infectious anemia]. / Receptor sérico de transferrina en niños sanos. Valor diagnóstico en la anemia infecciosa y en la ferropénica.

BACKGROUND: The serum transferrin receptor (TfR) presents certain advantages over other parameters of cellular iron status because it does not vary in acute or chronic diseases. OBJECTIVE: To establish reference ranges of TfR in healthy children for our laboratory, to define the distribution of this variable in children with acute illness and in those with iron deficiency, and to evaluate the diagnostic yield of TfR, the transferrin-receptor/ferritin ratio (TfR/F) and the transferrin-receptor-ferritin index (TfR-F) in distinguishing ferropenic from infectious anemia. PATIENTS AND METHODS: A descriptive, cross-sectional analysis was conducted in 132 children aged from 6 months to 16 years for a period of 18 months. The subjects were classified in three groups: healthy children, children with acute illness, and children with iron deficiency. The distribution of TfR and its diagnostic yield were evaluated. RESULTS: Of the 132 subjects, 30 were excluded because they lacked one or more of the parameters under analysis and 19 were excluded because they showed a thalassemic trait. In the 30 healthy children, the mean TfR concentration was 1.2 mg/l (SD 0.36) and the median was 1.02 (IQR 0.7-1.7). In the 32 children with acute illness, with or without anemia, TfR values were similar to those found in healthy children (p > 0.05). TfR values were higher in children with iron deficiency (21 patients; mean TfR value: 1.67 mg/l SD 0:98) than in healthy children but this difference was not statistically significant (p 0.08). The highest TfR values were found in the group with ferropenic anemia (mean TfR value: 2.13 mg/l SD 1.14) with a statistically significant difference between healthy children (p 0.04) and those with iron deficiency without anemia (p 0.01). The TfR/F ratio showed an optimal diagnostic yield in distinguishing ferropenic from acute disease anemia. If this ratio is higher than 80.7 ferropenia can be suspected as the cause of the anemia with a global value of the test of 100 % (95 % CI: 75.91-99.42). CONCLUSIONS: TfR could be useful in evaluating intracellular iron status in children. Acute disease does not alter TfR values and, in combination with ferritin, TfR offers an optimal diagnostical yield in distinguishing ferropenic from acute illness anemia.

[Pancreatitis: review of our casuistics in the last 10 years]. / Pancreatitis: revisión de nuestra casuística en los últimos 10 años.

OBJECTIVE: Pancreatitis is a rare cause of abdominal pain in childhood. Advances in imaging techniques for pancreatic disease have enabled earlier clinical and etiological diagnosis, thus improving treatment possibilities. The aim of this study was to analyze the etiology, diagnostic methods, and management in patients with pancreatitis diagnosed in our hospital in the last 10 years. MATERIAL AND METHODS: We reviewed the children aged 0-16 years with a diagnosis of pancreatitis admitted to our hospital between 1990 and 2000. Diagnostic criteria were symptoms suggestive of pancreatitis and hyperamylasemia. RESULTS: There were 8 females and 1 male. The median age was 11.5 years (range: 7-16 years). Laboratory findings were as follows: mean amylase level was 1601 U/l and mean lipase level was 506 U/l. Imaging tests: ultrasonography, abdominal computed tomography (CT), and endoscopic retrograde cholangiopancreatography (ERCP) were performed in 1 patient, and magnetic resonance cholangiopancreatography (MRCP) was performed in 2. Etiology was cholelithiasis (2 patients), secondary to anti-oncological therapy (3 patients), hypercholesterolemia (1 patient), and idiopathic (3 patients). Medical treatment consisted of diet, analgesia, and octreotide in 1 patient, and antioxidants in 1 patient. Surgery was required in 2 patients. Complications consisted of pancreatic pseudocyst in 2 patients. CONCLUSIONS: The incidence of childhood pancreatitis is low. In our series, mainly teenage girls were affected. The main causes were idiopathic and toxic. Diagnosis was given by elevated amylase and lipase levels in blood and by imaging tests (ultrasonography, abdominal CT, ERCP, MRCP, depending on the patient). Basic treatment consisted of support measures (fasting and analgesia) together with octreotide, antioxidants or surgical treatment, depending on etiology.

Pancreatitis: revisión de nuestra casuística en los últimos 10 años / Pancreatitis: review of our casuistics in the last 10 years

Objetivo: La pancreatitis se considera un cuadro de dolor abdominal poco frecuente en la infancia. La utilización de nuevas técnicas de imagen permite un diagnóstico clínico y etiológico más precoz y con ello mejorar las posibilidades de tratamiento. El objetivo de nuestro trabajo ha sido revisar los casos diagnosticados en nuestro hospital en los últimos 10 años, y analizar la etiología, los métodos diagnósticos y el manejo clínico empleados. Material y métodos: Revisión de los casos diagnosticados de pancreatitis en niños entre 0-16 años en nuestro hospital durante el período 1990-2000. Se consideró criterio diagnóstico la sintomatología sugerente junto con hiperamilasemia. Resultados: La distribución por sexos fue de 8 mujeres y 1 varón. Rango de edad: 7-16 años (mediana, 11,5 años). Pruebas de laboratorio: niveles de amilasa (media, 1.601 U/l) y de lipasa (media, 506 U/l) al ingreso. Pruebas de imagen: ecografía, tomografía computarizada (TC) abdominal, colangiopancreatografía retrógrada endoscópica (CPRE) (en un caso), colangiopancreatografía por resonancia magnética (CPRM) (en 2 casos). Etiología: litiasis biliar (2 casos), tóxicos (3 casos), hipercolesterolemia (un caso), idiopática (3 casos). Tratamiento: médico (dieta, analgesia, octreótido en un caso, antioxidantes en un caso); quirúrgico, 2 casos. Complicaciones: seudoquiste pancreático en 2 casos. Conclusiones: La incidencia de pancreatitis en la infancia es baja. En nuestra serie afecta predominantemente a mujeres adolescentes. Las causas principales fueron idiopática y secundaria a tóxicos. El diagnóstico se efectuó por la elevación de los valores de amilasa y lipasa en sangre, acompañado de pruebas de imagen (ecografía, TC abdominal, CPRE, CPRM según los casos). El tratamiento básico ha consistido en medidas de soporte (dieta absoluta y analgesia), acompañadas de octreótido, antioxidantes o tratamiento quirúrgico en función de la etiología (AU)

[The treatment results in children diagnosed with non-Hodgkin's lymphomas and acute B-cell lymphoblastic leukemias treated by the BFM protocols. The report of the POGM (Pediatric Oncology Group of Madrid)]. / Resultados del tratamiento de niños diagnosticados de linfomas no Hodgkin y leucemias linfoblásticas agudas de células B tratados con protocolos BFM. Informe del GOPM (Grupo de Oncología Pediátrica de Madrid).

OBJECTIVE: The purpose of this study was to reproduce the results obtained by the "BFM Group" in children with NHL and B-ALL treated with BFM 86 and 90 protocols. PATIENTS AND METHODS: From April 1987 until January 1997, we have treated a total of 82 children, 22 with non-B NHL, 49 B-NHL and 11 B-ALL. Forty-four of them were treated according to BFM 86 and 38 according to BFM 90 protocols. RESULTS: Ninety-four percent of the patients achieved complete remission (CR) and 15% of these relapsed, 12% of the cases of B NHL/ALL and 23% of the non-B NHL. The 5 year overall survival (Kaplan Meier) was 81% for the B NHL/ALL it was 83% and for non-B NHL 77%. The event-free survival was 75% for B-NHL, stages I and II it was 80% and stages II and IV 78%, for B-ALL 72% and for non-B NHL 68%. The median follow-up time was 50 months (12-106). CONCLUSIONS: Treatment of NHL and B-ALL with BFM protocols is an effective therapeutic choice, with reproduction of the results of the "BFM group" being feasible.

[The results of treatment by the Madrid Pediatric Oncology Group according to the BFM protocols in non-Hodgkin's B-cell lymphoma and acute B-cell lymphoblastic leukemia in pediatric patients]. / Resultados del tratamiento según protocolos BFM del linfoma no Hodgkin B y de la leucemia linfoblástica aguda de células B en pacientes pediátricos por el GOPM.

The objective of this report is to present the results of the BFM group in the treatment of 41 children with non-Hodgkin's B cell lymphoma and acute B cell lymphoblastic leukemia according to the BFM 86 and 90 protocols. Forty-one children, between 2 and 16 years of age, were treated from November 1987 to October 1993. Of these, 25 were treated with the BFM 86 protocol (18 non-Hodgkin's B cell lymphomas and 7 acute B cell lymphoblastic leukemias) and the rest with the BFM 90 protocol (15 non-Hodgkin's B cell lymphomas and 1 acute B cell lymphoblastic leukemia). Complete remission was achieved in 97.5% of the patients. A relapse occurred in 12.5% of the cases. Currently, 80.4% remain in continuous complete remission and 17% have died. The 5 year actuarial survival rate of those treated with the BFM 86 and 90 protocols was 79% and 87%, respectively, and event free survival in the same period was 76% and 87%, respectively. There was no statistically significant difference in the results obtained with the two treatment protocols.

[Treatment of infantile acute lymphoblastic leukemia with protocol ALL-BFM 83]. / Tratamiento de la leucemia aguda linfoblástica infantil con el protocolo ALL-BFM 83.

The outcome of 63 children with non-B acute lymphoblastic leukemia treated with ALL-BFM 83 protocol is analyzed. 95% achieved complete remission with the initial treatment. For the entire group the event free survival (EFS) was 66% (+/- 9%) at 48 months. These results were close to those obtained by the BFM group. Haematological toxicity was the main adverse effect, but there where no therapy related deaths. Persistence of more than 1,000 blast cells per microl in peripheral blood after 7th days of prednisone monotherapy, and spleen size greater than or equal to 5 cm under the costal margin, were identified as independent risk factors of high significance. The EFS in patients with poor clinical response to steroids (greater than or equal to 1,000 blast/microl at day 8) was 22% (+/- 18%), instead of 69% (+/- 12%) in those with adequate response.

[Hemocytometric and morphologic studies of red cells in cord blood]. / Estudio hemocitométrico y morfológico de la serie roja en la sangre del cordón umbilical.

Authors present red cell indexes of 120 newborns with normal haemoglobin pattern. In the newborn there is an increase of the red cell mass with regard to the infancy and adult life. The lower limit of normality in our environment for MCV is 99.69 fl. The Hb F concentration is 74.70 +/- 10.69%. The differential aspects of the red blood cells in the umbilical cord blood are commented. The influence of several biological variables on the newborn's red cell indexes are described.

[Gaucher's disease of the 3d type (juvenile form)]. / Enfermedad de Gaucher tipo III (forma juvenil).

A case of Gaucher's disease, juvenile type is presented. Disease manifested with signs of hepatosplenomegaly, and thrombocytopenia. The typical Gaucher's cells were found in bone marrow aspiration. Acid phosphatase levels were 1.74 U. Bessey-Lowry/ml, 80.45% corresponding to the non-prostatic fraction. The enzymatic activity of glucosyl ceramide-beta-glucosidase was determined in a fibroblast culture, being its value of 0.42 mU/mg of protein (control: 3.2 mU/mg of protein). We comment on the existing relationship between the clinical types, as well as the therapeutic possibilities.

[Treatment of juvenile rheumatoid arthritis (author's transl)]. / Tratamiento de la artritis reumatoide juvenil.

A revision of the treatment of the juvenile chronic arthritis (JCA) is made, Salicylates, still in use, require control of the salicylate level in order to obtain a higher efficiency and to prevent toxicity. New drugs appeared in the last years (by-products of propionic acid, tolmetin acid, fenclofenic...), are useful as an alternative for salicylates and with very little toxicity. Steroid therapy has to be reserved for serious systemic illness only, and slow acting drugs as antimalarials, gold and pencillamine, were only used in those cases with severe persistant activity and in cases of corticosteroid dependents. Use of the immunosuppressive therapy, is justified only in exceptional cases. Immunostimulants (transfer factor, Levamisol) are still in experimental phase. Presentation of the last five years' experience of the Pediatric Department is given. It concerns 25 cases of JCA, 5 systemic forms, 9 polyarticular and 11 forms of pauci-articular. Therapy is based on the predominant use of aspirin and on steroid therapy for the system forms. The efficiency of the treatment is not easy to evaluate regarding consideration of the unpredictable evaluation of the illness.