Retraso diagnóstico en la enfermedad inflamatoria intestinal pediátrica. Descripción y estudio de los factores de riesgo / Description and study of risk factors for the diagnostic delay of pediatric inflammatory bowel disease

INTRODUCCIÓN: El retraso diagnóstico (RD) de la enfermedad inflamatoria intestinal pediátrica (EII-P) puede conllevar la aparición de complicaciones y una menor respuesta al tratamiento. Estudiar el RD y los factores que lo condicionan ayudaría a implementar medidas correctoras y mejorar la evolución de la enfermedad. PACIENTES Y MÉTODOS: Un total de 53 casos (31 de enfermedad de Crohn [EC], 19 de colitis ulcerosa [CU] y 3 EII-P no clasificadas) entre 2000 y 2012 se evaluaron de forma retrospectiva a través de la información recogida en las historias clínicas de atención primaria y las de un Servicio de Gastroenterología infantil de un hospital terciario. La variable respuesta principal fue el tiempo entre el primer contacto médico-paciente y el diagnóstico. RESULTADOS: El tiempo mediano de RD fue de 12 semanas (rango intercuartílico 5-24). Sin embargo, un 26,3% de las CU y un 25,8% de las EC presentaron un RD superior a un año. Ninguno de los factores de riesgo estudiados se asoció significativamente a un RD relevante pero los niños de menor edad presentaron una tendencia a un mayor RD. CONCLUSIONES: Aunque el RD mediano de la EII-P parece aceptable, existe una proporción importante de niños con unas características clínicas heterogéneas y unos tiempos diagnósticos considerables. Se debería profundizar en el análisis de las oportunidades perdidas de diagnóstico

INTRODUCTION: Diagnostic delay of inflammatory bowel disease in children might be responsible for complications and a poor response to treatment. The study of diagnostic delay and its determining factors may help implement corrective measures and improve the prognosis of the disease. PATIENTS AND METHODS: A retrospective study of the information collected from primary care medical records and that from the pediatric gastroenterology service at a tertiary hospital between 2000 and 2012 was carried out on 53 patients: 31 with Crohn's disease, 19 with ulcerative colitis, and 3 with unclassified pediatric inflammatory bowel disease. The main response variable was the interval from the first physician-patient contact to diagnosis. RESULTS: The median time to diagnosis was 12 weeks (interquartile range 5-24). However for 26.3% of the ulcerative colitis cases and 25.8% of the Crohn's disease cases, the interval was longer than 1 year. There was a more marked delay trend in Crohn's disease cases, but it was not statistically significant. None of the evaluated risk factors was associated with a relevant diagnostic delay, although it tended to be longer in younger children. CONCLUSIONS: Whereas the median delay for pediatric inflammatory bowel disease seems to be acceptable, the diagnostic time spans are considerable for a large proportion of children with heterogeneous clinical characteristics. Further research into lost diagnostic opportunities needs to be carried out

[Description and study of risk factors for the diagnostic delay of pediatric inflammatory bowel disease]. / Retraso diagnóstico en la enfermedad inflamatoria intestinal pediátrica. Descripción y estudio de los factores de riesgo.

INTRODUCTION: Diagnostic delay of inflammatory bowel disease in children might be responsible for complications and a poor response to treatment. The study of diagnostic delay and its determining factors may help implement corrective measures and improve the prognosis of the disease. PATIENTS AND METHODS: A retrospective study of the information collected from primary care medical records and that from the pediatric gastroenterology service at a tertiary hospital between 2000 and 2012 was carried out on 53 patients: 31 with Crohn's disease, 19 with ulcerative colitis, and 3 with unclassified pediatric inflammatory bowel disease. The main response variable was the interval from the first physician-patient contact to diagnosis. RESULTS: The median time to diagnosis was 12 weeks (interquartile range 5-24). However for 26.3% of the ulcerative colitis cases and 25.8% of the Crohn's disease cases, the interval was longer than 1 year. There was a more marked delay trend in Crohn's disease cases, but it was not statistically significant. None of the evaluated risk factors was associated with a relevant diagnostic delay, although it tended to be longer in younger children. CONCLUSIONS: Whereas the median delay for pediatric inflammatory bowel disease seems to be acceptable, the diagnostic time spans are considerable for a large proportion of children with heterogeneous clinical characteristics. Further research into lost diagnostic opportunities needs to be carried out.

Aplicación del «score» diagnóstico de hepatitis autoinmune en pediatría: revisión a largo plazo / Implementation of diagnosis of autoimmune hepatitis score in pediatrics: long-term review

Introducción: El pronóstico de la hepatitis autoinmune (HAI) está condicionado por la precocidad diagnóstica y terapéutica. No obstante, se desconocen los marcadores diagnósticos específicos. El grupo internacional para la HAI creó un score diagnóstico, pero no existe certeza sobre su validez en pediatría. Objetivo: Análisis de la capacidad diagnóstica del score entre los 0 y los 23 años. Pacientes y métodos: Estudio retrospectivo (desde febrero de 1994 hasta diciembre de 2010) de pacientes de 0-23 años diagnosticados de HAI conforme a criterios clínicos, analíticos, serológicos y anatomopatológicos. Se aplica el score pre/postratamiento. Resultados: Se incluyen 10 pacientes. El score pretratamiento diagnostica HAI «definitiva» en 3 pacientes, «probable» en 5 y «exclusión» en 2. La sustitución del marcador de colestasis «fosfatasa alcalina» (FA) por la gamma-glutamiltransferasa (GGT) modifica la clasificación de 2 pacientes en sentido «probable» a «definitiva» y «exclusión» a «probable». La eliminación del indicador «alcohol» no induce cambios. El score postratamiento diagnostica HAI «definitiva» en 6 pacientes y «probable» en 4, sin que induzca cambios la eliminación del indicador «alcohol» y sí la sustitución de FA por GGT (1 paciente con variación de «probable» a «definitiva»). Conclusiones: Todos los pacientes respondieron a los inmunosupresores de forma sostenida, sin colestasis de novo, lo que apoya el diagnóstico de HAI independientemente del score. El score debe ser interpretado con precaución, dada su capacidad de orientación en el inicio, pero no de exclusión diagnóstica, y su valor postratamiento es superior. Consideramos adecuada la sustitución del indicador «FA» por «GGT» (AU)

Introduction: The prognosis of autoimmune hepatitis (AIH) depends on the diagnosis and early treatment. However, specific diagnosis markers remain unknown. The international group for the AIH created a diagnostic score, but there is uncertainty about its validity in paediatrics. Purpose: Analysis of the diagnostic ability of the score between 0 and 23 years old. Patients and methods: Retrospective study (February 1994-December 2010) of 0 to 23 year-old patients diagnosed of AIH according to clinical, laboratory, serological and pathological findings. The score is applied pre and post-treatment. Results: 10 patients were included. Pre-treatment AIH score diagnoses "definitive" in 3 patients, "probable" in 5 and "exclusion" in 2. Replacement of cholestasis marker "alkaline phosphatase" (AP) by "gamma-glutamyl-transferase" (GGT) alters the classification of 2 patients with "probable" to "definitive", and "exclusion" to "probable" sense. Removal of the indicator "alcohol" does not induce changes. The post-treatment AIH score diagnoses "definitive" in 6 patients and "probable" in 4, with no changes inducing the elimination of the "alcohol" marker and as do replacing AF by GGT (1 patients with variation from "probable" to "definitive"). Conclusions: All patients responded to immunosuppressive agents steadily and did not develop cholestasis. This supports the diagnosis of AIH regardless of the score. The score should be cautiously interpreted because it does not allow any diagnostic exclusion, with superior value post-treatment. The replacement of "AP" indicator for "GGT" should be considered (AU)

Estudio retrospectivo de factores de riesgo de transmisión vertical de infección por virus hepatitis C / Retrospective study of risk factors of vertical transmission of hepatitis C virus

Introducción: A pesar de la baja prevalencia infantil de infección por virus hepatitis C (VHC) y su leve clínica inicial, la infección crónica puede evolucionar a cirrosis y/o hepatocarcinoma. Es fundamental controlar su transmisión vertical. Los últimos estudios describen hasta 50% de transmisiones intraútero. Material y métodos: Estudiamos retrospectivamente 17 casos de infección por VHC en 8 años, analizando los factores de riesgo de transmisión vertical, para aplicar prevención primaria. Resultados: Solo la adicción a drogas vía parenteral muestra riesgo significativo, sin ser la coinfección VIH factor de confusión. La carga viral, la coinfección por VIH, la disfunción hepática y el tiempo de evolución de infección no muestran mayor riesgo. La cesárea, la amniocentesis y la monitorización interna pueden ser factores de riesgo (sin significación estadística), pero no las horas de amniorrexis. La lactancia materna muestra protección. Conclusiones: Pese a la importancia frecuentemente atribuida, el efecto de la carga viral sobre el riesgo de transmisión no está claramente establecido: la ausencia de viremia no descarta el riesgo de transmisión, ya que la detección de ARN viral puede ser intermitente, y por tanto, los datos al respecto deben interpretarse con cautela. La inmunosupresión secundaria a la coinfección por VIH supone mayor riesgo de transmisión, pero dicho efecto disminuye al mejorar la capacidad inmune gracias al tratamiento antirretroviral. Respecto a las características del parto, el tiempo transcurrido tras la rotura de membranas no ha mostrado ser factor de riesgo; y se desestima la cesárea como forma óptima y electiva de finalizar la gestación de estas mujeres. La lactancia materna, lejos de suponer mayor riesgo de transmisión, puede ser protectora. La escasa carga viral en la leche, su inactivación por el pH ácido gástrico y sus beneficios inmunológicos justificarían este resultado. Dadas las limitaciones de los estudios retrospectivos, es necesario plantear análisis prospectivos para conocer mejor el papel de los posibles factores de riesgo y establecer pautas claras de prevención; de momento, es fundamental el control evolutivo de todos los hijos de madres con infección por el VHC (AU)

Introduction: Despite the low prevalence of paediatric HCV infection and its initial mild clinical expressiveness, chronic infection could progress into cirrhosis and/or hepatocarcinoma. It is essential to control vertical transmission. Recent studies show that up to 50% of transmissions occur within the uterus. Material y methods: A retrospective study was conducted on 17 cases of (Hepatitis C virus) HCV infection registered over a period of 8 years. Vertical transmission risk factors were analysed, in order to introduce primary prevention. Results: Only parenteral drug addiction significantly increased the rate of HCV transmission; HIV co-infection was not a confounding factor. HCV viremia, HIV co-infection, liver dysfunction and/or duration of the infection did not appear to affect the rate of transmission. Caesarean section, amniocentesis and internal monitoring may be risk factors (not statistically significant), but not prolonged vaginal delivery after amniotic membrane rupture. Breastfeeding showed protection. Conclusions: The effect of viremia on the risk of transmission is not clearly established, despite the importance usually attributed. Lack of viremia does not discount the risk of transmission, due to viral RNA detection can be intermittent, so it should be interpreted cautiously. Immunosuppression secondary to HIV co-infection implies a higher risk of transmission, but this effect decreases by improving immune competence by antiretroviral treatment. With regard to the birth characteristics, time after the rupture of membranes has not shown being a risk factor; being the caesarean not advisable as a good alternative to finish the pregnancy. Breastfeeding does not increase the risk, even it can be protective. This results would be justified by the low viral content of milk, its inactivation by gastric pH and its immunological benefits. Given that retrospective studies results are limited, prospective studies need to be carried out in order to improve the understanding of the role of possible risk factors and to provide a clear preventive guidelines. At the moment it is essential to control all the children born of mothers with HCV infection (AU)

[Retrospective study of risk factors of vertical transmission of hepatitis C virus]. / Estudio retrospectivo de factores de riesgo de transmisión vertical de infección por virus hepatitis C.

INTRODUCTION: Despite the low prevalence of paediatric HCV infection and its initial mild clinical expressiveness, chronic infection could progress into cirrhosis and/or hepatocarcinoma. It is essential to control vertical transmission. Recent studies show that up to 50% of transmissions occur within the uterus. MATERIAL AND METHODS: [corrected] A retrospective study was conducted on 17 cases of (Hepatitis C virus) HCV infection registered over a period of 8 years. Vertical transmission risk factors were analysed, in order to introduce primary prevention. RESULTS: Only parenteral drug addiction significantly increased the rate of HCV transmission; HIV co-infection was not a confounding factor. HCV viremia, HIV co-infection, liver dysfunction and/or duration of the infection did not appear to affect the rate of transmission. Caesarean section, amniocentesis and internal monitoring may be risk factors (not statistically significant), but not prolonged vaginal delivery after amniotic membrane rupture. Breastfeeding showed protection. CONCLUSIONS: The effect of viremia on the risk of transmission is not clearly established, despite the importance usually attributed. Lack of viremia does not discount the risk of transmission, due to viral RNA detection can be intermittent, so it should be interpreted cautiously. Immunosuppression secondary to HIV co-infection implies a higher risk of transmission, but this effect decreases by improving immune competence by antiretroviral treatment. With regard to the birth characteristics, time after the rupture of membranes has not shown being a risk factor; being the caesarean not advisable as a good alternative to finish the pregnancy. Breastfeeding does not increase the risk, even it can be protective. This results would be justified by the low viral content of milk, its inactivation by gastric pH and its immunological benefits. Given that retrospective studies results are limited, prospective studies need to be carried out in order to improve the understanding of the role of possible risk factors and to provide a clear preventive guidelines. At the moment it is essential to control all the children born of mothers with HCV infection.

Hematoma intramural duodenal posbiopsia / Post-biopsy intramural duodenal haematoma

No disponible

Hipertransaminasemia como manifestación del síndrome de Shwachman-Diamond / Hypertransaminasemia as a manifestation of Shwachman-Diamond syndrome

El síndrome de Shwachman-Diamond es la segunda causa más frecuente de insuficiencia pancreática exocrina congénita, después de la fibrosis quística. Se trata de un trastorno multisistémico de herencia autosómica recesiva con una gran heterogeneidad en las manifestaciones clínicas. Los rasgos centrales del síndrome son la disfunción pancreática exocrina y la disfunción de la médula ósea (sobre todo neutropenia). Otros rasgos que apoyan el diagnóstico son las anormalidades esqueléticas, hepatomegalia, elevación de transaminasas en suero, corta estatura e infecciones frecuentes. Presentamos 2 casos clínicos cuyo motivo de remisión a nuestra consulta fue la hipertransaminasemia persistente. Nuestras 2 pacientes evolucionaron hacia la normalidad de la función hepática y mejoría de la función pancreática. Presentaron varios episodios de neutropenia pero no mostraron alteraciones óseas, lo cual no excluye el diagnóstico

Shwachman-Diamond syndrome (SDS) is the second most common cause of congenital exocrine pancreatic insufficiency after cystic fibrosis. SDS is an autosomal recessive multisystemic disorder, with wide heterogenicity in its clinical characteristics. The central features of this syndrome are pancreatic exocrine and bone marrow dysfunction (mainly neutropenia). Other features are skeletal abnormalities, hepatomegaly, elevation of serum aminotransferase levels, short stature and frequent infections. We present two patients who were referred to us because of persistent hypertransaminasemia. In both patients, liver function returned to normal and pancreatic function improved. Both patients showed several neutropenic episodes but no bone disorders, which does not exclude the diagnosis

[Pneumonectomy in cystic fibrosis]. / Neumonectomía en fibrosis quística.

We present the case of a 13-year-old boy with cystic fibrosis (CF) who developed severe right-sided lung infection with formation of abscess and localized bronchiectasis. The boy's lung disease was complicated by nephrotic syndrome and secondary amyloidosis. Unilateral pneumonectomy was performed, producing significant clinical improvement with a remarkable increase in quality of life which has lasted to the present date, 15 years later. Most patients with CF develop lung disease, which is the main cause of adult mortality in this population. Lung transplantation is currently considered the treatment of choice in severe bilateral lung disease in CF. However, in severe unilateral lung disease such as localized bronchiectasis, surgical resection of the affected lobe or lung is still a worthwhile option as a rescue therapy for patients who are at high risk of dying while waiting for lung transplantation.

Neumonectomía en fibrosis quística / Pneumonectomy in cystic fibrosis

Se presenta un niño de 13 años diagnosticado de fibrosis quística que desarrolló una infección grave del pulmón derecho con formación de abscesos y bronquiectasias localizadas. La evolución de su enfermedad se complicó con un síndrome nefrótico y amiloidosis secundaria. Se practicó neumonectomía derecha con lo que se consiguió una gran mejoría clínica y un aumento significativo en su calidad de vida hasta el momento actual, 15 años más tarde. Muchos pacientes con fibrosis quística desarrollan enfermedad pulmonar. Esta es la principal causa de mortalidad en la edad adulta. Hoy día, el trasplante pulmonar se considera el tratamiento de elección en la enfermedad pulmonar grave bilateral. Sin embargo, en los casos de lesiones graves unilaterales, como bronquiectasias localizadas, la resección quirúrgica del lóbulo o pulmón afectado es todavía una opción terapéutica para pacientes con alto riesgo de fallecimiento en la lista de espera para trasplante pulmonar (AU)

Trastornos intestinales funcionales (equivalentes del colon irritable) / Functional bowel disorders (equivalent to irritable bowel syndrome)

No disponible

Hemangioma cavernoso intestinal con anemia recurrente como único síntoma / Cavernous hemangioma of the small intestine with recurrent anemia as the only symptom

Los hemangiomas del intestino delgado son extremadamente raros en niños y el diagnóstico preoperatorio es difícil. Presentamos una niña de 11 años con un hemangioma cavernoso solitario de intestino delgado como causa de una anemia recurrente que comenzó a los 21 meses de vida. Después de múltiples pruebas diagnósticas a lo largo de 6 años, el hemangioma fue detectado mediante una gammagrafía con hematíes marcados con tecnecio-99m y fue resecado mediante laparoscopia (AU)

[An alpha 1-antitrypsin aerosol in the treatment of cystic fibrosis]. / Aerosol de alfa-1-antitripsina en el tratamiento de la fibrosis quística.

Alpha-1-antitrypsin (a-1AT) is a natural inhibitor of the elastase that is released physiologically by neutrophils in the lung. As a result of the increased neutrophil degranulation secondary to chronic epithelial inflammation in cystic fibrosis patients with chronic infections by Pseudomonas aeruginosa, there are larger amounts of elastase in airway secretions. This results in the a-1AT concentration being insufficient to inhibit the destructive proteolytic degradation, culminating in a chronic epithelial burden and a worsening of the cystic fibrosis pulmonary disease. In this preliminary study, we have evaluated the results obtained from the sputum of 4 cystic fibrosis patients treated with a-1AT (Prolastina, Bayer) in aerosol. The levels of a-1AT, neutrophil elastase, antineutrophil elastase activity, IgG, albumin and clinical parameters were measured. The concentration of sputum a-1AT was increased when compared to the same patient after 8 days with treatment (we compared means with Student's t-test and p < 0.05 was considered significant). We did the same with the impairment of neutrophil elastase, although we found no significant results. Nevertheless, antineutrophil elastase activity increased (p < 0.05). These results encourage us to continue the same treatment for a longer period of time to prevent pulmonary disease in CF subjects.

[Febrile convulsions and meningitis]. / Convulsiones febriles y meningitis.

A hundred clinical records of children between the ages of 6 and 18 months were examined. These previously healthy children, were hospitalized after having their first febrile seizure. Lumbar puncture were performed on 42 of them, showing the existence of meningitis in 4 cases, 2 of which were bacterial meningitis. Previously, clinical criteria for meningitis diagnosis were: alteration of general condition, irritability, vomiting, bulging fontanelle and meningeal signs; in these 4 cases, the clinical criteria were noticed. In 17 puncture patients who did not fulfil clinical criteria, the cerebrospinal fluid was normal. The sensitivity and negative predictive value of these clinical criteria were 100% and their application in this series would have avoided the lumbar puncture in 40% of cases. The utility of peripheral white blood cell counts following TOOD's patterns for the bacterial meningitis diagnosis was low, with a sensibility of 50%. We conclude that the lumbar puncture in these children should not be performed as a routine measure.