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15.465  Articles
1 of 1.547 pages  |  10  records  |  more records»
Peritoneal dialysis (PD) initiation can be difficult in patients developing end stage renal disease (ESRD) due to autosomal dominant polycystic kidney disease (ADPKD) when these patients need nephrectomy to prepare kidney transplantation. Here we describe... see more

Tumor en la enfermedad renal poliquística. Presentación de un caso / Tumors in polycystic kidney disease. A case reportTumor en la enfermedad renal poliquística. Presentación de un caso / Tumors in polycystic kidney disease. A case reportEl carcinoma de la célula renal es encontrado en muy poca probabilidad en la enfermedad renal poliquística autosómica dominante. El objetivo de este trabajo es presentar un caso tratado por insuficiencia renal crónica progresiva en el curso de una enfermedad renal poliquística autosómica dominante, el cual sufre graves complicaciones y es intervenido quirúrgicamente, encontrándose en el acto quirúrgico la asociación de un tumor con una enfermedad renal poliquística autosómica dominante. La intervención quirúrgica se realizó en el servicio de Urología del Hospital General Docente "Abel Santamaría Cuadrado" en junio de 2009. La paciente acude a consulta por un cuadro hemorrágico urinario y dolor lumbar gravativo, se constata las mucosas: hipocoloreadas y húmedas, y en el aparato cardiovascular: ruidos cardiacos y taquicardicos, frecuencia cardiaca: 110 x minuto y TA: 190/110 mmHg, se ingresa al paciente e indica tratamiento sintomático además de estudios hematológicos y radiológicos: Hematocrito ( 0,40 L/L), Glicemia (4,5 mmol-L), Conteo de plaquetas ( 18 / 109 /L), Creatinina (110 mmol/L), Electrocardiograma (Taquicardia sinusal) y orina (Hematuria Macroscópica). Ecografía abdominal: Riñón izquierdo aumentado de tamaño con múltiples imágenes eco lúcidas, el riñón derecho muy aumentado de tamaño con imágenes eco lúcidas hacia polo superior, deformidad de la parte media y polo inferior del mismo, por tumor ecogénico de 140 x 100 mm., Tomografía axial computarizada: Masas hipodensas regulares en riñón izquierdo, masas hipodensas en riñón derecho, masa tumoral a nivel del mismo. Se realiza nefrectomía derecha confirmando el diagnóstico. La evolución fue satisfactoria con egreso a los 7 días de la intervención.Palabras clave: Enfermedad renal poliquística, autosómico dominante.ABSTRACTRenal cell carcinoma is rarely found in the autosomal dominant polycystic kidney disease (ADPKD). The objective of this work is to present a case treated by progressive chronic renal failure in the course of ADPKD, whose patient suffers from severe complications, finding a tumor associated to ADPKD during the surgery. The surgery was performed in the service of urology at "Abel Santamaria Cuadrado" University Hospital in June 2009. The patient attended to the hospital presenting a hemorrhagic urinary and lumbar gravitational pain picture. The mucosae were hypocolored and wet. Cardiovascular system presented: cardiac sounds and tachycardia, cardiac rate: 110 x minute and BP: 190/110 mmHg. The patient was hospitalized and the treatment was indicated, the hematologic and radiographic studies showed: hematocrit (0, 40 L/L), blood glucose (4, 5 mmol-L), platelet counts (18 / 109 /L), creatinine (110 mmol/L). The electrocardiogram showed a sinus tachycardia and in the urinalysis a macroscopic hematuria was observed. Detecting in the abdominal echography an enlargement in the left kidney with multiple echolucid images and the right kidney was enlarged with echolucid images towards the superior pole with a deformity in the middle part and in the inferior pole due to an echogenic tumor of 140x100mm. The CAT scan showed: regular hypodense masses in left kidney as well as hypodense masses in the right kidney and a tumoral mass in its level. The right nephrectomy was performed confirming the diagnosis. The evolution was satisfactory and the patient was discharged from the hospital at 7 days after the surgical intervention.Key words: Polycystic kidney disease; autosomal dominant

ABSTRACTRenal cell carcinoma is rarely found in the autosomal dominant polycystic kidney disease (ADPKD). The objective of this work is to present a case treated by progressive chronic renal failure in the course of ADPKD, whose patient suffers from sever... see more

Thanatophoric dysplasia (TD) is a congenital, sporadic, and the most lethal skeletal dysplasia caused by new mutation in the fibroblast growth factor receptor 3 gene. At birth, it is characterized by shortening of the limbs (micromelia), small conical tho... see more

Dentinogenesis imperfecta (DI) is a hereditary dentin defect caused by an autosomal dominant mutation in dentin sialophosphoprotein gene. Defective dentin development results in discolored teeth that are prone to wear and fracture. Early diagnosis and pro... see more

A 78-year-old man who had been diagnosed with autosomal dominant polycystic kidney disease (ADPKD) and hypertension presented with chest pain. His family history was positive for ADPKD. Chest computed tomography (CT) revealed a type A aortic dissection wi... see more

AbstractA 65-year-old man was referred to the Gastroenterology Department with complaints of longstanding upper abdominal discomfort and hepatomegaly. Ultrasound of the liver revealed a massively enlarged liver with multiple cystic areas. Aspiration of th... see more

Background: Dermatopathia pigmentosa reticularis (DPR) is a very rare autosomal dominant disorder with the diagnostic triad of generalized reticulate hyperpigmentation, noncicatricial alopecia and onychodystrophy. Objective: To describe the occurrence of ... see more

RÉSUMÉIntroduction. La polykystose rénale autosomique dominante (PKRAD) est la néphropathie héréditaire la plus fréquente au monde. Le but de notre étude était d’étudier les caractéristiques épidémiologiques, cliniques, paracliniques, thérapeutiques et év... see more

We report here neuroimaging findings of a  41 years-old female with molecular diagnosis of CADASIL (Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy). CADASIL, the most common form of hereditary stroke, is ch... see more

1 of 1.547 pages  |  10  records  |  more records»