RESUMO
Ornithine transcarbamylase (OTC) deficiency (OTCD) is an X-linked urea cycle disorder. Being an X-linked disease, the onset and severity of the disease may vary among female carriers. Some of them start to develop the disease early in life, whereas others remain asymptomatic throughout their lives. Our patient was a 42-year-old man who developed severe hyperammonemia and fatal brain edema after receiving a right lobe graft from an asymptomatic female living donor with unrecognized OTCD. The donor developed hyperammonemia and disturbed level of consciousness that was managed successfully by hemodialysis. Molecular testing of the OTC gene in the donor revealed a heterozygous nonsense mutation (c.429T>A) in exon 5.
Assuntos
Hiperamonemia/genética , Falência Hepática/terapia , Transplante de Fígado/efeitos adversos , Mutação , Doença da Deficiência de Ornitina Carbomoiltransferase/genética , Ornitina Carbamoiltransferase/genética , Adulto , Edema Encefálico/diagnóstico , Códon sem Sentido , Evolução Fatal , Feminino , Heterozigoto , Humanos , Hiperamonemia/terapia , Fígado/patologia , Masculino , Doença da Deficiência de Ornitina Carbomoiltransferase/diagnóstico , Diálise Renal , IrmãosRESUMO
We describe a patient with structurally normal heart who developed hemodynamic instability during orthotropic liver transplantation caused by severe dynamic left ventricular outflow tract obstruction. Successful management of this adverse event was facilitated by the use of intravenous terlipressin. The case highlights a role for terlipressin as a selective vasopressin receptor agonist with subsequent effects on systemic vascular resistance.
