Análisis de los resultados del tratamiento de la enfermedad de Cushing en los hospitales de Castilla-La Mancha / Assessment of the outcomes of the treatment of Cushing's disease in the hospitals of Castilla-La Mancha

OBJETIVO: El tratamiento de la enfermedad de Cushing plantea interesantes dilemas en la práctica clínica. Nuestro objetivo es analizar los resultados y complicaciones de los distintos tratamientos de esta enfermedad. MATERIAL Y MÉTODOS: Se recopilaron datos mediante revisión de las historias clínicas de 22 pacientes (86,4% mujeres), mayores de 18 años, diagnosticados de enfermedad de Cushing entre los años 2000 y 2012, con seguimiento en el Complejo Hospitalario Universitario de Albacete, Hospital Virgen de la Salud (Toledo), Hospital General de Ciudad Real, Hospital Virgen de la Luz (Cuenca), Hospital Nuestra Señora del Prado (Talavera de la Reina) y en el Complejo Hospitalario la Mancha Centro (Alcázar de San Juan). RESULTADOS: En todos los casos el tratamiento de elección fue el quirúrgico. Se consiguió la curación bioquímica en el 72,7%. Nueve pacientes desarrollaron diabetes insípida en el perioperatorio, de las que 2 resultaron permanentes. Tres pacientes desarrollaron diabetes insípida permanente, que no había sido identificada en el perioperatorio. Aparecieron nuevos déficits hormonales adenohipofisarios posquirúrgicos en 7 pacientes. Diecisiete pacientes recibieron tratamiento médico prequirúrgico con ketoconazol (5 también postoperatorio), consiguiéndose la normalización del cortisol libre urinario en el 70%. Tres pacientes se irradiaron por persistencia de hipersecreción y, tras una mediana de seguimiento de 85,8 meses, se ha conseguido la curación en todos; ninguno de ellos ha desarrollado tumores, alteraciones vasculares ni otra complicación. CONCLUSIONES: Nuestro estudio presenta los resultados del manejo de la enfermedad de Cushing en centros que no son de referencia nacional para esta enfermedad, lo que posiblemente refleja la práctica clínica habitual en esta enfermedad

OBJECTIVE: Treatment of Cushing's disease poses interesting dilemmas in clinical practice. The aim of our study was to analyze the outcomes of the different treatments, the control and recurrence rates, and the complications derived from them. MATERIAL AND METHODS: Data were collected from the clinical records of 22 patients over 18 years of age (86.4% women). They had been diagnosed with Cushing's disease between 2000 and 2012, and were monitored at Complejo Hospitalario Universitario-Albacete, Hospital Virgen de la Salud-Toledo Hospital General Universitario de Ciudad Real, Hospital Virgen de la Luz-Cuenca, Hospital Nuestra Señora del Prado-Talavera de la Reina, and Complejo Hospitalario la Mancha Centro-Alcázar de San Juan. RESULTS: Surgery was the treatment of choice in all patients. Biochemical cure was achieved in 72.2% of patients. Nine patients developed in the early postoperative period diabetes insipidus, which became in 2 patients only. Surprisingly, 3 patients with normal postoperative neurohypophyseal function later developed permanent diabetes insipidus. New hormone deficiencies occurred in 7 patients. Seventeen patients received ketoconazole before surgery (5 of them after surgery also), and 70% of them achieved normal urinary free cortisol levels. Three patients also received radiotherapy, and all of them were cured after a median follow-up of 85.5 months; they developed no tumors or other complications. CONCLUSIONS: Our study reports the outcomes of management of Cushing's disease in non-reference centers for this disease, possibly giving a realistic picture of standard clinical practice for the condition in Spain

Assessment of the outcomes of the treatment of Cushing's disease in the hospitals of Castilla-La Mancha.

OBJECTIVE: Treatment of Cushing's disease poses interesting dilemmas in clinical practice. The aim of our study was to analyze the outcomes of the different treatments, the control and recurrence rates, and the complications derived from them. MATERIAL AND METHODS: Data were collected from the clinical records of 22 patients over 18 years of age (86.4% women). They had been diagnosed with Cushing's disease between 2000 and 2012, and were monitored at Complejo Hospitalario Universitario-Albacete, Hospital Virgen de la Salud-Toledo Hospital General Universitario de Ciudad Real, Hospital Virgen de la Luz-Cuenca, Hospital Nuestra Señora del Prado-Talavera de la Reina, and Complejo Hospitalario la Mancha Centro-Alcázar de San Juan. RESULTS: Surgery was the treatment of choice in all patients. Biochemical cure was achieved in 72.2% of patients. Nine patients developed in the early postoperative period diabetes insipidus, which became in 2 patients only. Surprisingly, 3 patients with normal postoperative neurohypophyseal function later developed permanent diabetes insipidus. New hormone deficiencies occurred in 7 patients. Seventeen patients received ketoconazole before surgery (5 of them after surgery also), and 70% of them achieved normal urinary free cortisol levels. Three patients also received radiotherapy, and all of them were cured after a median follow-up of 85.5 months; they developed no tumors or other complications. CONCLUSIONS: Our study reports the outcomes of management of Cushing's disease in non-reference centers for this disease, possibly giving a realistic picture of standard clinical practice for the condition in Spain.

Demografía, características clínicas y genéticas de pacientes con carcinoma medular de tiroides en los últimos 16 años en Castilla-La Mancha / Demographic, clinical, and genetic characteristics of patients with medullary thyroid cancer in the past 16 years in Castilla-La Mancha

OBJETIVO: El carcinoma medular de tiroides es un tumor de baja prevalencia cuyo pronóstico es peor que el del cáncer diferenciado de tiroides debido su mayor agresividad. El objetivo de este trabajo es describir las características demográficas, clínicas y genéticas de los pacientes atendidos en el área sanitaria de la Comunidad de Castilla-La Mancha durante 16 años. PACIENTES Y MÉTODOS: Los datos se recogieron mediante revisión de historias clínicas. RESULTADOS: Se revisaron las historias clínicas de 58 pacientes con una edad media al diagnóstico de 51 años (intervalo de 6 a 82 años) y un 63,8% de mujeres. La prevalencia fue de 2,84 casos por 100.000 habitantes, con una gran variabilidad entre áreas (de 0 a 5,4 casos por 100.000 habitantes). Los casos familiares representaron el 34,5% del total, siendo la mutación más frecuente la C634Y. El motivo más frecuente de diagnóstico fue la palpación de un bultoma cervical (70,6%); se solicitó ecografía al diagnóstico en 56 de 58 casos, y la calcitonina en 8 de 58 casos. La multicentricidad del tumor fue descrita en el 59 y 50% de los casos de síndrome de neoplasia endocrina múltiple tipo 2A y 2B, respectivamente, y en ningún caso esporádico. El 52% de los pacientes presentaba un estadio avanzado al diagnóstico (III o IV). La mediana de seguimiento fue de 36 meses (rango intercuartílico 14-210), con la pérdida de 11 pacientes durante el seguimiento. CONCLUSIONES: El diagnóstico de carcinoma medular de tiroides en Castilla-La Mancha se basa en la ecografía cervical, pero no en la calcitonina. Existe una alta prevalencia de este carcinoma, tanto familiar como esporádico, y una importante variabilidad en el tipo de mutación del protooncogén rearranged during transfection comparadas con las del resto de la población española

OBJECTIVE: Medullary thyroid cancer is a rare tumor that is more aggressive and has a worse prognosis than differentiated thyroid cancer. The purpose of this study was to report the demographic, clinical, and genetic characteristics of patients seen in the health care system of the community of Castilla-La Mancha over a 16-year period. PATIENTS AND METHODS: Data were collected through a review of patients' medical records. RESULTS: The medical records of 58 patients (mean age at diagnosis, 51 years; range, 6-82 years; 63.8% women) were reviewed. Prevalence rate was 2.84 cases per 100,000 inhabitants, with a high variability between areas (range, 0-5.4 cases per 100,000 inhabitants). Familial cases accounted for 34.5% of all medullary thyroid cancers, and the most common mutation was C634Y. The condition was most commonly diagnosed following palpation of a cervical lump (70.6%). At diagnosis, 56 of 58 patients underwent ultrasound and 8 of 58 patients were tested for serum calcitonin. Tumor multicentricity was reported in 59 and 50% of patients with multiple endocrine neoplasia syndrome type 2A and 2B, respectively, and in no sporadic cases. Fifty-two percent of patients had an advanced stage (III or IV) at diagnosis. Median follow-up was 36 months (interquartile range, 14-210); 11 patients were lost to follow-up. CONCLUSIONS: In Castilla-La Mancha, medullary thyroid cancer is diagnosed by cervical ultrasound, rather than calcitonin assay. There is a high prevalence of both familial and sporadic medullary thyroid cancer, and a significant variability in the type of proto-oncogen rearranged during transfection mutation as compared to the rest of the Spanish population

Demographic, clinical, and genetic characteristics of patients with medullary thyroid cancer in the past 16 years in Castilla-La Mancha.

OBJECTIVE: Medullary thyroid cancer is a rare tumor that is more aggressive and has a worse prognosis than differentiated thyroid cancer. The purpose of this study was to report the demographic, clinical, and genetic characteristics of patients seen in the health care system of the community of Castilla-La Mancha over a 16-year period. PATIENTS AND METHODS: Data were collected through a review of patients' medical records. RESULTS: The medical records of 58 patients (mean age at diagnosis, 51 years; range, 6-82 years; 63.8% women) were reviewed. Prevalence rate was 2.84 cases per 100,000 inhabitants, with a high variability between areas (range, 0-5.4 cases per 100,000 inhabitants). Familial cases accounted for 34.5% of all medullary thyroid cancers, and the most common mutation was C634Y. The condition was most commonly diagnosed following palpation of a cervical lump (70.6%). At diagnosis, 56 of 58 patients underwent ultrasound and 8 of 58 patients were tested for serum calcitonin. Tumor multicentricity was reported in 59 and 50% of patients with multiple endocrine neoplasia syndrome type 2A and 2B, respectively, and in no sporadic cases. Fifty-two percent of patients had an advanced stage (iii or iv) at diagnosis. Median follow-up was 36 months (interquartile range, 14-210); 11 patients were lost to follow-up. CONCLUSIONS: In Castilla-La Mancha, medullary thyroid cancer is diagnosed by cervical ultrasound, rather than calcitonin assay. There is a high prevalence of both familial and sporadic medullary thyroid cancer, and a significant variability in the type of proto-oncogen rearranged during transfection mutation as compared to the rest of the Spanish population.

Síndrome de intestino corto / Short bowel syndrome

El síndrome de intestino corto es un cuadro clínico caracterizado por una importante disminución de la superficie intestinal efectiva por una pérdida anatómica o funcional del intestino delgado. Aparece sobre todo tras resecciones intestinales extensas por isquemia mesentérica. Sus principales complicaciones son diarrea, deshidratación, pérdida de peso, desnutrición, déficit de electrolitos, vitaminas y oligoelementos. Un soporte nutricional adecuado e individualizado constituye la base del tratamiento. Presentamos el caso de un varón joven con estado de hipercoagulabilidad y síndrome de intestino corto que presentó un síndrome confusional por abandono en la dieta y tratamiento, expresándose como una encefalopatía de Wernicke(AU)

Short bowel syndrome is characterized by a significant reduction in the effective intestinal surface by an anatomical or functional loss of the small intestine. It mainly occurs after extensive bowel resection due to mesenteric ischemia. The main complications are diarrhoea, dehydration, weight loss, malnutrition, and electrolyte, vitamin and trace element deficiency. Treatment is based on appropriate, individualized nutritional support. We report the case of a young man with a hypercoagulable state and short bowel syndrome who presented with a confusional state due to non-compliance to diet and treatment, expressed as a Wernicke encephalopathy(AU)

Cáncer medular de tiroides familiar: importancia del estudio molecular en el diagnóstico / Familial medullary thyroid carcinoma: Importance of the molecular analysis in the diagnosis

El cáncer medular de tiroides familiar, neoplasia del tejido tiroideo poco prevalente, tiene su origen en una mutación del protoncogén RET. A continuación describimos un caso de presentación atípica y mutación poco frecuente (V804L), en el que la punción aspiración aguja fina y las técnicas de imagen no resultaron concluyentes y fueron las pruebas bioquímicas y el análisis molecular del gen RET las que permitieron llegar al diagnóstico y establecer el pronóstico del caso índice y sus familiares (AU)

Familial medullary thyroid cancer (FMTC) is a non-predominant thyroid neoplasia originating from a proto-oncogene RET mutation. The case presented is atypical in its form of presentation, a fairly uncommon mutation (V804L) and does not have conclusive fine-needle aspiration biopsy (FNAB) and image studies. Biochemical and RET molecular analysis has a high diagnostic and predictive value in the index and familial cases (AU)

Diabetes como manifestación inicial de Hemocromatosis Hereditaria / Diabetes as an initial manifestation of Hereditary Hemochromatosis

La Hemocromatosis hereditaria (HH) es un desorden genético común del metabolismo del hierrode carácter recesivo. Los pacientes con HH presentan una mayor absorción intestinal de hierro y éste puede acumularse en grandes cantidades provocando disfunción orgánica. La frecuencia de diabetes está aumentada en la HH. El diagnóstico clínico se establece frecuentemente en base a parámetros de sobrecarga de hierro (índice de saturación de transferrina y ferritina sérica), sin embargo, con frecuencia es necesario realizar una biopsia hepática y determinar la cantidad de hierroen hígado para confi rmar la presencia de depósitos de hierro. El diagnóstico de HH antes de que seproduzcan depósitos de hierro es difícil y es necesario aumentar el grado de sospecha por parte delmédico. Con un diagnóstico precoz y un tratamiento adecuado, la supervivencia de los pacienteses normal

Hereditary hemochromatosis (HH) is an inherited disorder of iron metabolism. It is one of the mostcommon autosomal recessive conditions. In patients with HH the amount of iron absorbed by the intestines is increased, which may lead to excess iron being deposited in different organs of the body, causing organ dysfunction. The frequency of diabetes is increased in HH. A clinical diagnosis of HH can often be established on the basis of blood tests (transferrin saturation index and serum ferritin level), however, a liver biopsy to determine the amount of iron in the liver is often required to confirm tissue iron overload. The diagnosis of hereditary hemochromatosis before iron overload hasdeveloped is diffi cult. However, doctors need to have a higher awareness of HH because with early diagnosis and appropriate treatment, survival of patients is normal