Kidney and liver transplantation in patients with autosomal recessive polycystic kidney disease: a multicentric study.

BACKGROUND AND OBJECTIVES: In contrast to the improvement in our understanding of the pathogenesis and presentation of autosomal recessive polycystic kidney disease (ARPKD), data regarding the issue of kidney and liver transplantation in patients with ARPKD remain particularly scarce. Here, we report the results and outcome of renal and/or liver transplantation in a series of patients with ARPKD. METHODS: Fourteen ARPKD patients (age: 3-25 years) who underwent renal transplantation with or without liver transplantation were retrospectively identified in five French nephrology departments. The patients' medical charts were reviewed and relevant data were collected. RESULTS: The clinical and radiological presentation of the 14 patients was highly variable illustrating the heterogeneity of ARPKD. Six patients underwent kidney and/or liver transplantation in adulthood. First renal graft survival was 92, 78 and 14% at 1, 5 and 10 years after renal transplantation, respectively. Mortality rate was relatively high (3/14; 21%) in these young patients and was directly related to infectious complications (recurrent angiocholitis) of severe Caroli's disease (dilatation of intra- and/or extra-hepatic bile ducts), a typical feature of ARPKD. CONCLUSIONS: Our data suggest that ARPKD patients evaluated for renal transplantation should be carefully screened for severe Caroli's disease. Even though the limited number of patients included in our study precludes any definite recommendation, pre-emptive liver transplantation may be a therapeutic option in ARPKD patients with severe Caroli's disease evaluated for renal transplantation.

[Caroli's syndrome].

OBJECTIVE: Caroli's syndrome is a rare autosomal recessive hereditary disease. Here a case of Caroli's syndrome associated with medullary sponge kidney was reported. The patient was a 2-years and 10 months-old boy. He presented with hepatosplenomegaly. Fever, abdominal pain or jaundice was not found. The imaging examination showed intrahepatic bile duct dilation, splenomegaly, medullary sponge kidney and nephrocalcinosis. After introduction of the case, this paper reviewed the clinical characteristics, diagnosis and treatment of Caroli's syndrome.

[Cystic diseases of the liver. From embryology to malformations]. / Maladies kystiques du foie. De l'embryologie aux malformations.

Cystic diseases of the liver which are in most cases hereditary, are related to an embryonic disorder know as ductal plate malformation. These diseases correspond to partial or total arrest of remodeling of the ductal plate, leading to more or less complete persistence of the excess of embryonic biliary structures. The ductal plate malformation may concern different segments of the intrahepatic biliary tree (segmental bile ducts, interlobular bile ducts and the smallest bile duct ramifications) leading to various pathoclinical entities. Caroli's disease is characterized by persistent dilated large intrahepatic bile ducts and appears to be the result of a factor acting during the early period of bile duct embryogenesis. Congenital hepatic fibrosis is characterized by ductal plate malformations of more distal, interlobular, bile ducts, and could be due to a factor that acts later on during bile duct development. This disorder may be isolated or associated with malformations of large, segmental, intrahepatic bile ducts. Von Meyenburg complexes and autosomal dominant polycystic liver disease are related to ductal plate malformation of more peripheral interlobular bile ducts and caused by a factor intervening in the later phase of bile duct embryogenesis. The genetic or non genetic factors leading to these ductal plate malformations are unknown.

Ludwig symposium on biliary disorders--part I. Pathogenesis of ductal plate abnormalities.

Intrahepatic bile ducts (IHBDs) develop from bipotential liver progenitor cells in contact with the mesenchyme of the portal vein and thus form the "ductal plates." The ductal plates are remodeled into mature tubular ducts. Lack of remodeling results in the persistence of periportal epithelial sleeves or "ductal plate malformation" (DPM). A proposal is that virtually all congenital diseases of IHBDs represent examples of DPM. Some early, severe types of extrahepatic bile duct atresia are characterized by DPM, a suggestion of a prenatal beginning of the disease. Several congenital diseases are characterized by dilatation of segments of IHBDs and variable degrees of fibrosis. Such "fibrocystic diseases" represent DPM at different levels of the biliary tree. Autosomal recessive polycystic kidney disease represents DPM of interlobular bile ducts, associated with tubular dilatation of collecting renal tubules. Congenital hepatic fibrosis may derive from the same type of liver lesion, through a superimposed destructive type of cholangiopathy associated with scarring fibrosis. Caroli's disease represents DPM of the larger IHBDs, whereas Caroli's syndrome combines the lesions of Caroli's disease and congenital hepatic fibrosis. von Meyenburg complexes represent DPM of smaller interlobular ducts; their dilatation gives rise to the liver cysts in autosomal dominant polycystic kidney disease. Finally, DPM is a component of the tissue abnormalities in so-called mesenchymal hamartoma.

Caroli's disease.

Caroli's disease is characterized by multifocal segmental dilatation of the intrahepatic bile ducts. It is a rare congenital condition, which appears to be autosomal recessively inherited in most cases. There are two forms of disease, one associated with congenital hepatic fibrosis and a simple form occurring alone. Recent reports suggest that the simple form may be as common as that with congenital hepatic fibrosis. Other conditions, including choledochal cyst and renal cystic disease, are frequently associated. The major clinical feature is recurrent cholangitis, which may be complicated by intrahepatic calculi and hepatic abscess formation. There is good evidence that malignancy complicates Caroli's disease in approximately 7% of cases. The diagnosis rests on demonstrating that the cystic liver lesions are in continuity with the biliary tree. Modern imaging techniques allow the diagnosis to be made more easily and without invasive imaging of the biliary tree. The treatment depends on the clinical features and the location of the biliary abnormality. When the disease is localized to one hepatic lobe, hepatectomy relieves symptoms and appears to remove the risk of malignancy. In diffuse Caroli's disease, treatment options include conservative or endoscopic therapy, internal biliary bypass procedures and liver transplantation in carefully selected cases.

[Echographic aspects of Caroli disease]. / Aspetti ecografici della malattia di Caroli.

We describe a case of congenital non-obstructive dilatation of the hepatic bile ducts (Caroli disease). The accuracy of ultrasound for the diagnosis of this syndrome is pointed out. Ultrasound scan can be carried out easily and with a remarkable imaging precision. The ultrasonographic patterns consist of both evident dilatation of the ducts and characteristic protrusions connecting the ductal walls to intraluminal portal branches (bridging). These sonographic findings confirm the etiopathogenetic hypothesis according to which Caroli disease is a result of the blockage of the bile ducts development. Moreover, we underline the efficacy of ursodeoxycholic acid in the treatment of the chronic cholestasis, always present in this disease.

Trasplante hepático en pacientes con lesiones hepáticas benignas / Liver transplantation in patients with benign hepatic lesions

Las lesiones benignas hepáticas son enfermedades poco frecuentes y el trasplante hepático en ellas es excepcional. Presentamos una revisión del tema, con comentarios sobre las entidades subsidiarias de trasplante hepático, de las que destacan: la adenomatosis, la poliquistosis y el hemangioendotelioma epitelioide hepático (aunque este proceso sea de grados bajo a intermedio de malignidad). Valoramos aspectos específicos de estas lesiones, desde el punto de vista epidemiológico, etiopatogénico, clínico, diagnóstico, terapéutico, indicación del trasplante y experiencia de los diferentes autores en estas afecciones (AU)

Benign hepatic lesions are rare and liver transplantation in these cases is exceptional. We present a review of the subject, commenting on the aspects that have been subsidiary to liver transplantation, of which are highlighted: adenomatosis, polycystosis and hepatic epithelioid haemangioendothelioma (although this process may be a low to intermediate malignant grade). We assessed specific epidemiological, aetiopathogenic, clinical, diagnostic, therapeutic and aspects of the lesions as well as indication for transplantation, and the experiences of different authors on these pathologies (AU)

Enfermedad de Caroli

Se presenta un caso de enfermedad de Caroli, que se ha complicado con colangitis a repetición y bacteremia. Se plantea la posibilidad del drenaje repetido de la via biliar por medio de la endoscopia retrógrada como una alternativa para reducir los episodios de colangitis, y mitigar por ende el daño hepático progresivo. Se revisa la literatura pertinente de una enfermedad poco común, cuyo diagnóstico se hace a veces demasiado tarde y se presta a confusión con otras anomalías estructurales hepáticas y del árbol biliar.

Hepatectomía en 4 pacientes con litiasis intrahepática / Hepatectomy in four patients with intrahepatic lithiasis

Introducción. La litiasis intrahepática, muy frecuente en países del sudeste asiático, es rara en países europeos y se asocia a estenosis y dilataciones de los radicales biliares, lo que puede obligar a realizar resecciones hepáticas para su resolución definitiva.Pacientes y método. Presentamos 4 pacientes con litiasis intrahepática que requirieron una hepatectomía para su resolución. En un caso se asoció a enfermedad de Caroli del lóbulo hepático derecho que precisó hepatectomía derecha, y los 3 casos restantes presentaron estenosis de radicales segmentarios del lóbulo hepático derecho y precisaron segmentectomías para su resolución. La litiasis intrahepática se manifestó clínicamente por un cólico hepático en un caso y una colangitis aguda en 3 casos. La exploración preoperatoria e intraoperatoria fundamental para el diagnóstico fue la ecografía. Las exploraciones radiológicas (tomografía computarizada, resonancia magnética y técnicas con contraste, preoperatorias e intraoperatorias) fueron importantes para el diagnóstico definitivo.Resultados. No existió mortalidad intraoperatoria ni postoperatoria. Dos pacientes presentaron un absceso subfrénico resuelto con drenaje radiológico. No ha recurrido la litiasis intrahepática tras un seguimiento medio de 29 meses (rango, 17-38).Conclusiones. La hepatectomía resuelve definitivamente aquellos pacientes con litiasis intrahepática cuando existen estenosis y/o dilataciones lobares o segmentarias. Si preoperatoriamente no se sospecha la litiasis intrahepática, los pacientes pueden requerir varias intervenciones para su resolución definitiva. (AU)