RESUMO
Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive disorders, and liver transplant is the only curative treatment. A biliary diversion operation for disruption of enterohepatic circulation in patients with progressive familial intrahepatic cholestasis type 1 without cirrhosis is another option. We present a pediatric patient with progressive familial intrahepatic cholestasis type 1 who underwent liver transplant due to end-stage liver disease. After transplant, diarrhea and growth retardation complications resolved after partial external biliary diversion surgery.
Assuntos
Colestase Intra-Hepática , Transplante de Fígado , Criança , Colestase Intra-Hepática/diagnóstico , Colestase Intra-Hepática/etiologia , Colestase Intra-Hepática/cirurgia , Diarreia/diagnóstico , Diarreia/etiologia , Diarreia/cirurgia , Humanos , Transplante de Fígado/efeitos adversos , Resultado do TratamentoRESUMO
Ciliopathies are a heterogeneous group of diseases that are observed after deterioration of the ciliary structures on the cell surface that facilitate communication with the environment. Both liver and kidney involvement are frequently observed in this disease. Recently, a doublecortin domain containing protein 2 (DCDC2) mutation in a ciliopathy disease group was identified. Here, we present 2 patients with this mutation and with neonatal cholestasis and renal involvement.
