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1.
Z Gastroenterol ; 51(3): 287-9, 2013 Mar.
Artigo em Alemão | MEDLINE | ID: mdl-23487357

RESUMO

BACKGROUND: Due to the lack of symptoms an enterothorax frequently remains undetected in adults. Most symptomatic patients complain about bowel obstruction and a surgical repair of the diaphragmatic defect, particularly with a mesh, is mandatory. METHODS: This report presents the case of a 72-year-old female patient with a history of an upside-down stomach presenting with a painless jaundice and signs of liver cirrhosis. CLINICAL COURSE: The preoperative work-up revealed an enterothorax with compression of the main bile duct. Explorative laparotomy showed a liver cirrhosis with distinct intrahepatic cholestasis, a hydropic gallbladder and confirmed a right-sided diaphragmatic defect with an enterothorax. After reposition of the intestine, a cholecystectomy, bile duct revision and the closure of the diaphragmatic defect using a mesh were performed. CONCLUSION: Diaphragmatic defects are the basis for the formation of an enterothorax which may be associated with a complicated clinical course. Therefore, in cases of coincidental diagnosis, even in asymptomatic patients, surgical repair should be performed in order to prevent serious complications as presented in this case.


Assuntos
Colestase Intra-Hepática/diagnóstico , Colestase Intra-Hepática/cirurgia , Hérnia Diafragmática/diagnóstico , Hérnia Diafragmática/cirurgia , Idoso , Colestase Intra-Hepática/etiologia , Diagnóstico Diferencial , Feminino , Hérnia Diafragmática/complicações , Humanos , Resultado do Tratamento
2.
Z Gastroenterol ; 49(12): 1535-42, 2011 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-22139877

RESUMO

Urea cycle defects belong to the most common metabolic disorders with a cumulative incidence of 1:8000. A common trait of urea cycle defects is a disturbed detoxification of ammonia leading to hyperammonemia in the event of a high nitrogen load. Most patients develop symptoms in the neonatal period or in infancy, e. g. vomiting, seizures and disturbed consciousness. Depending on the affected enzyme and its residual activity, patients differ in the age at first presentation, the character and severity of symptoms and in the susceptibility to metabolic derangement. The presence of hyperammonemia and an altered plasma amino acid profile give the essential diagnostic clues. Since modern therapeutic measures have prolonged the life expectancy of these patients and provided the possibility of a first presentation in adulthood, patients with urea cycle defects have become an increasing challenge in internal medicine. The reported case series illustrates the heterogeneous clinical course of these disorders from childhood to adulthood.


Assuntos
Distúrbios Congênitos do Ciclo da Ureia/diagnóstico , Distúrbios Congênitos do Ciclo da Ureia/terapia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
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