Carcinoma medular de tiroides asociado a una mutación del protooncogén RET con presentación y evolución poco frecuente / Medullary thyroid carcinoma associated with a RET protooncogene mutation with an infrequent presentation and evolution

El carcinoma medular de tiroides (CMT) es un tumor derivado de las células parafoliculares de la glándula tiroides productoras de calcitonina. Es una neoplasia muy infrecuente en niños y adolescentes. La calcitonina es un marcador tumoral fundamental en el diagnóstico y el seguimiento de estos tumores. Sin embargo, se han descrito algunos casos de CMT no productores de calcitonina, hecho que dificulta el manejo de estos pacientes. Presentamos el caso de un CMT en una paciente portadora de una mutación en el protooncogén RET de riesgo moderado, según la clasificación de la Asociación Americana de Tiroides de 2015. Se trata de una presentación más precoz y agresiva de lo que cabría esperar, con la peculiaridad añadida de que los marcadores tumorales estaban dentro de los límites de la normalidad. Además, realizamos una revisión del tema y analizamos las posibles causas descritas para este caso, así como formas alternativas para el manejo de estos pacientes

Medullary thyroid carcinoma (MTC) is a malignant tumor of the parafollicular C cells of the thyroid, which produces calcitonin (CT). It's very infrequent in children and adolescents. CT is a well-recognized tool in the diagnosis and the follow up of these tumors. However, few cases of CT-negative MTCs have been reported in literature. This fact makes more difficult to manage these patients. We present a patient with a moderate risk mutation in RET protoncogene, according to the ATA classification of 2015 who develops a MCT. This case is more precocious and aggressive than what we would normally expect, and it has the peculiarity that tumor markers were between normal limits. We review the literature and analyze possible causes for this event. We also show alternative ways to manage these kind of patients

Unidad Multidisciplinar de Fibrosis Quística del Hospital Universitario 12 de Octubre / Cystic Fibrosis Multidisciplinary Unit of Hospital Universitario 12 de Octubre

La fibrosis quística (FQ) es la enfermedad genética letal más frecuente en la raza blanca. Se trata de una enfermedad multisistémica crónica minoritaria grave que altera profundamente la vida del paciente y de su familia y va a requerir una atención permanente y de por vida. Su diagnóstico y manejo son complejos y costosos, requiere la atención de un equipo multidisciplinar. El tratamiento optimizado de los niños con FQ ha provocado una mejoría progresiva de la calidad de vida y de la supervivencia media de estos pacientes. El cribado neonatal llevado a cabo en unidades especializadas puede mejorar el pronóstico de estos niños (AU)

Cystic fibrosis (CF) is the most frequent lethal genetic disorder in white people. It is a multisystemic, chronic disorder that severely interferes with the patient's life and his family's and Will require permanent care throughout life. Its diagnosis and management are complex and costly, and benefit from the work of a multidisciplinary team. Optimized treatment of children with CF has been proven to improve quality of life and mean survival rates for these patients. Newborn screening undertaken in specialized units further ameliorates prognosis (AU)

Síndrome hemolítico-urémico: afectación renal a largo plazo / Hemolytic uremic syndrome: long term renal injury

Introducción: El síndrome hemolítico urémico es la causa más frecuente de insuficiencia renal aguda no prerrenal en edad pediátrica y suele ser secundario a diarrea aguda infecciosa, generalmente por Escherichia coli productor de verotoxina. Se caracteriza por fracaso renal agudo, anemia hemolítica y trombocitopenia. Puede producir secuelas renales a largo plazo y llevar a insuficiencia renal terminal. Material y métodos: El objetivo de este estudio retrospectivo es describir las secuelas renales y analizar los factores pronósticos de las mismas en los pacientes pediátricos atendidos en un hospital terciario español en los últimos 28 años. Resultados: Han sido atendidos 43 niños con esta patología, 38 de ellos con antecedentes de diarrea. Entre los seguidos más de 3 meses, en el momento de la última revisión (media 6,6 años, DE 5 años de seguimiento), un 21,6% (8/37) presentaba deterioro del filtrado glomerular. Incluyendo proteinuria e hipertensión arterial, encontramos hasta un 35,1% (13/37) de enfermedad renal crónica. Un 8,1% (3/37) entró en insuficiencia renal terminal. Encontramos como factores pronósticos de lesión renal a largo plazo en regresión logística univariante: hipertensión durante el ingreso, mayor leucocitosis, mayor duración del ingreso, mayor duración de la anuria y menor filtrado glomerular al alta. El análisis multivariante muestra asociación con la duración de la anuria. Conclusiones: Aproximadamente, una tercera parte de nuestros casos de síndrome hemolítico-urémico desarrollaron a largo plazo afectación renal en grado variable. Una mayor y más prolongada afectación de la función renal inicial se asocia en nuestro estudio con una mayor probabilidad de deterioro renal en su evolución posterior (AU)

Introduction: Hemolytic uremic syndrome (HUS) is the most frequent cause of non-pre-renal acute renal failure in pediatrics and it is usually secondary to acute infectious diarrhea, generally due to Shiga-toxin producing E. coli. It is characterized by acute renal failure, hemolytic anemia and thrombocytopenia. It can lead to renal sequels in the long term and to end-stage renal disease. Methods: The aim of this retrospective study is to describe and analyze renal sequels and their prognostic factors in pediatric patients suffering from HUS in a Spanish tertiary hospital during the last 28 years. Results: 43 children with this condition were admitted, with 38 of them having presented with diarrhea previously. Among those with a follow-up longer than 3 months, 21.6% (8/37) had a reduction in glomerular filtration rate (GFR) in the last visit. Including proteinuria and hypertension, we found up to 35.1% (13/37) prevalence of chronic kidney disease, with 8.1% (3/37) of the patients with end-stage renal disease. We found the following to be prognostic factors for renal injury in the long term in a univariate logistic regression: hypertension, a longer stay in the hospital, more prolonged anuria, more severe leukocytosis and lower GFR at discharge. Multivariate logistic regression showed an association with time in anuria. Conclusions: Approximately one third of our cases of hemolytic uremic syndrome developed some degree of chronic kidney disease in the long term. A deeper and longer initial renal disfunction is associated with a higher probability of subsequent renal problems (AU)

[Hemolytic uremic syndrome: long term renal injury]. / Síndrome hemolítico-urémico: afectación renal a largo plazo.

INTRODUCTION: Hemolytic uremic syndrome (HUS) is the most frequent cause of non-pre-renal acute renal failure in pediatrics and it is usually secondary to acute infectious diarrhea, generally due to Shiga-toxin producing E. coli. It is characterized by acute renal failure, hemolytic anemia and thrombocytopenia. It can lead to renal sequels in the long term and to end-stage renal disease. METHODS: The aim of this retrospective study is to describe and analyze renal sequels and their prognostic factors in pediatric patients suffering from HUS in a Spanish tertiary hospital during the last 28 years. RESULTS: 43 children with this condition were admitted, with 38 of them having presented with diarrhea previously. Among those with a follow-up longer than 3 months, 21.6% (8/37) had a reduction in glomerular filtration rate (GFR) in the last visit. Including proteinuria and hypertension, we found up to 35.1% (13/37) prevalence of chronic kidney disease, with 8.1% (3/37) of the patients with end-stage renal disease. We found the following to be prognostic factors for renal injury in the long term in a univariate logistic regression: hypertension, a longer stay in the hospital, more prolonged anuria, more severe leukocytosis and lower GFR at discharge. Multivariate logistic regression showed an association with time in anuria. CONCLUSIONS: Approximately one third of our cases of hemolytic uremic syndrome developed some degree of chronic kidney disease in the long term. A deeper and longer initial renal disfunction is associated with a higher probability of subsequent renal problems.

Dermatitis perianal, fisuras y balanopositis por estreptococo betahemolítico del grupo A / Group A Beta-hemolytic Streptococcus as a cause of perinatal dermatitis, fissures and balanoposthitis

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Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients.

Erythrocyte uroporphyrinogen decarboxylase (UROD) activity was measured to classify 118 Spanish patients with porphyria cutanea tarda (PCT) into three subtypes: sporadic-, familial- and type III-PCT. Seventy-four patients (63%) had eythrocyte UROD activity within the normal range (74% to 126% of the mean activity of 43 healthy controls) and were classified as sporadic-PCT (47%) or as type III-PCT (16%) whenever a family history of PCT was documented. Forty-four patients (37%) had decreased UROD activity and were classified as familial-PCT. The frequency of both familial-PCT and type III-PCT was higher than reported in other countries. The clinical expression of PCT was associated with the coexistence of two or more risk factors in 80% of the sporadic-PCT patients and in 89% of the familial-PCT patients. Hepatitis C virus and alcohol abuse were risk factors frequently found in these patients, being unrelated to age of onset of skin lesions. A heavy alcohol intake was the main risk factor for type III-PCT. Estrogens appeared as a precipitating factor for women with familial-PCT. The H63D mutation in the hemochromatosis type 1 gene was more frequently found than the C282Y mutation. Both mutations appeared to play a role as precipitating factors in sporadic-PCT when associated with hepatitis C virus infection and alcohol abuse.