[Direct genetic diagnosis in cystic fibrosis]. / Direkte Gendiagnostik bei zystischer Fibrose.

The recent cloning of the cystic fibrosis gene and the simultaneous identification of the predominant mutation enabled direct gene diagnosis in the majority of all CF families. We demonstrate the superiority of now available direct genotyping in five individual cases.

[Plasma exchange in acute abdomen with multiple organ failure--a case report]. / Plasmaaustausch bei akutem Abdomen mit Polyorganversagen--ein Fallbericht.

Following four weeks of conservative treatment of acute pancreatitis a 43 years old female was admitted to our ICU in severe circulatory shock (MAP less than 50 mmHg despite dopamine and dobutamine 5 mcg/kg/min, and norepinephrine 0.4 mcg/kg/min), respiratory failure, incipient renal failure and coma. Laboratory examination revealed thrombopenia (14 G/l) and leucopenia (0.5 G/l), as well as impaired prothrombine time (20%) and partial thromboplastine time (greater than 2 min). As abdominal sepsis was suspected to be the most likely cause of the patients multiple organ failure, a laparotomy was planned. To improve coagulation prior to surgery, plasmapheresis was performed exchanging 4.8 liters of plasma with fresh frozen plasma. In addition 3 units of platelets were transfused. The effects of the plasmapheresis were an improvement of circulatory as well as coagulatory parameters. Laparotomy revealed toxic megacolon, whereas the pancreas seemed to be normal; a coecostomy and a transversostomy were performed. The patient thereafter improved gradually; catecholamine doses were reduced, renal function recovered and five days postoperatively weaning from the ventilator was possible. Platelet substitution (6 more units), fresh frozen plasma administration (76 units à 200 ml) and AT III substitution (total 10,500 U) had to be continued throughout the first week. Five weeks after this operation, which would have been impossible without preoperative plasmapheresis, the patient was discharged in good health.