RESUMO
We report the case of a 31-year old woman with recurrent cholangitis secondary to hepatolithiasis. The stones were composed of calcium bilirubinate. The patient also had a supernumerary hepatic lobe connected to the inferior aspect of the segment III of the liver. The role of the supernumerary hepatic lobe in the development of hepatolithiasis is unclear and may be coincidental.
Assuntos
Cálculos/complicações , Colangite/etiologia , Coledocolitíase/complicações , Colelitíase/complicações , Fígado/anormalidades , Adulto , Bilirrubina/análise , Biópsia , Cálculos/diagnóstico , Cálculos/metabolismo , Cálculos/cirurgia , Colangiopancreatografia Retrógrada Endoscópica , Colangite/diagnóstico , Colangite/cirurgia , Colecistectomia Laparoscópica , Coledocolitíase/diagnóstico , Coledocolitíase/metabolismo , Coledocolitíase/cirurgia , Colelitíase/diagnóstico , Colelitíase/metabolismo , Colelitíase/cirurgia , Feminino , Hepatectomia , Humanos , Fígado/cirurgia , Imageamento por Ressonância Magnética , Recidiva , Resultado do TratamentoRESUMO
BACKGROUND: The recurrent microlithiasis represents one of the most frequent clinical forms of lithiasis of the bile ducts. This affection is characterized by the presence of cholesterolic microgallstones on hepatic canaliculars, and belongs to a heterogeneous group of autosomal recessive liver disorders. Radiological diagnosis can be confirmed by analysis of MDR3 gene, coding a protein involved in physiologic translocation of phospholipids in bile. Discovery of MDR3 mutations is of particular interest, since normally associated with good effectiveness of medication by ursodesoxycholic acid. AIM: To review MDR3 mutations in humans associated with recurrent cholesterol microlithiasis and to suggest a practical approach for MDR3 gene analysis. RESULTS: 48 mutations of MDR3 gene have been reported in humans to date, from which 43 (89.5%) in the coding region, and 5 splice site mutations have been associated to cholesterol cholelithiasis. 21 (43.8%) of the 43 precited mutations are located in only 8 exons on 28, near transmembrane or nucleotide binding domains of the protein. From the 22 remaining described mutations, 9 (18.8%) are restricted to exon 14. We suggest therefore to start analysis of MDR3 gene by screening exons 6, 7, 9, 10, 12, 14, 17, 23 and 24 with an appropriate protocol in this diagnosis associated with effective treatment. In conclusion such therapeutic orientation is valuable, since recurrent cholesterolic microlithiasis occurs relatively early in life, and by the fact that recurrence of symptoms may occur despite cholecystectomy, or shock-wave therapy.