CASO CLINICO CON CORRELACION BIOQUIMICA

A 29-year-old male presents to the emergency department with complaints of dark-colored urine, generalized fatigue, myalgias, and weakness after completing a marathon. The patient states that this was his first marathon. He has no significant medical history and denies any medications or drug use. On examination, he appears moderately ill and is afebrile with normal vital signs. Physical exam reveals diffuse musculoskeletal tenderness. Urinalysis revealed large amounts of blood (hemoglobin and myoglobin), and serum creatine phosphokinase (CPK) was significantly elevated, as well as the potassium level on his electrolytes. The serum lactate level was markedly elevated.
◆ What is the most likely diagnosis?
◆ What is the most appropriate treatment?
◆ What is the biochemical basis for the markedly elevated serum
lactate level?

APREDIZAJE BASADO EN UN CASO

CASE 1
A 15-year-old African-American female presents to the emergency room with complaints of bilateral thigh and hip pain. The pain has been present for 1 day and is steadily increasing in severity. Acetaminophen and ibuprofen have not relieved her symptoms. She denies any recent trauma or excessive exercise. She does report feeling fatigued and has been having burning with urination along with urinating frequently. She reports having similar pain episodes in the past, sometimes requiring hospitalization. On examination, she is afebrile (without fever) and in no acute distress. No one in her family has similar episodes. Her conjunctiva and mucosal membranes are slightly pale in coloration. She has nonspecific bilateral anterior thigh pain with no abnormalities appreciated. The remainder of her examination is completely normal. Her white blood cell count is elevated at 17,000/mm3, and her hemoglobin (Hb) level is decreased at 7.1 g/dL. The urinalysis demonstrated an abnormal number of numerous bacteria.
◆ What is the most likely diagnosis?
◆ What is the molecular genetics behind this disorder?
◆ What is the pathophysiologic mechanism of her symptoms?

APRENDIZAJE BASADO EN PROBLEMAS AGOSTO 2009

EN UNA CUARTILLA COMO MAXIMO DEJE SU COMENTARIO AL CASO
-DIAGNOSTICO Y ESTUDIOS DE LABORATORIO PARA CONFIRMAR

Paciente varón de 50 años de edad previamente sano que consulta por ictericia y dolor en hipocondrio derecho.
Desde hace 5 semanas comienza con ese dolor en hipocondrio derecho, anorexia , astenia, prurito, ictericia y orina oscura . Sin otros síntomas. No historia de abuso de alcohol, tabaco o drogas. No viajes en los últimos 10 años. No historia de otros síntomas por aparatos, no enfermedades cardiológicas, articulares, endocrinas, ni digesivas. No toma fármacos. No cirugias previas ni transfusiones.
La exploración fisica demostró obesidad moderada, ictericia y dolor en hipocondrio derecho. Existía eritema palmar y algunos puntos rubí en el tórax. No signos de ascitis ni datos de encefalopatia. No edema, ni acropaquias. Auscultación cardiaca y pulmonar normal. No adenopatias. Hepatomegalia de tres traveses de dedo por debajo del limite costal, con dolor a la palpación. No esplenomegalia.
Las pruebas de laboratorio realizadas
Hemoglobina: 12.6 g/dL ; Leucocitos: 6200/ mm3; plaquetas: 170000/mm3; creatinina: 0,8 mg/dl; tiempo de protombina: 19 seg; tiempo parcila de tromboplastina: 55 seg; bilirrubina total: 25 mg/dl; bilirrubina directa: 14 mg/dl; albumina: 2,5 g/dl; fosfatasa alcalina: 130 U/L; TGO: 3023 U/L;TGP: 2270 U/L.
Se realizó una ecografía abdominal que demostró hepatomegalia regular sin masas. No ascitis. No signos de ascitis.No colelitiasis ni colecistis. El estudio de doppler venoso portal y hepático fue normal también.
Todas las serologías para virus de la hepatitis fueron negativas. Ceruloplasmina plasmática, alfa1-antitripsina, TSH y estudios del metabolismo férrico fueron normales.