1/67. Fibropolycystic disease of the hepatobiliary system and kidneys.This complicated case of fibropolycystic disease of the hepatobiliary system and kidneys was ably and incisively analyzed by Professor Sheila Sherlock. Her clinical acumen was revealed by her ability to differentiate congenital hepatic fibrosis, Caroli's disease, and adult polycystic disease of the liver and kidney. Interesting histologic features of this case included hepatic fibrosis with intact limiting plates anc central veins and the presence of bile plugs in the ducts, but the absence of bile statsis in the parenchyma. A percutaneous transhepatic cholangiogram demonstrated the dilated intrahepatic and extrahepatic ducts. Washing out the "gunk" from the biliary tract by T-tube drainage has great limitations in this type of case. Therefore, Dr. Adson suggested irrigation of the biliary ductal system using tubed placed transhepatically, plus a wide choledojejunostomy. Dr. Sherlock questioned this surgical approach. The use of chenodeoxycholic acid for this "gunk" was suggested. In spite of the dilated ducts and pathologic changes in the liver, the patient was not jandiced and did not have stones in her biliary tract. The genetics of this patient's problems was discussed.- - - - - - - - - - ranking = 1keywords = polycystic, kidney (Clic here for more details about this article) |
2/67. Disappearance of hepatitis b virus core deletion mutants and successful combined kidney/liver transplantation in a patient treated with lamivudine.hepatitis b virus (HBV) core deletion variants with enhanced viral replication are associated with rapid deterioration of liver function in renal allograft recipients. antiviral agents such as famciclovir and lamivudine offer new treatment strategies for these patients. Appearance, accumulation and persistence of HBV core deletion mutants were closely monitored in a kidney transplant recipient with liver cirrhosis before and after initiation of antiviral treatment. Under treatment with famciclovir HBV dna concentration decreased by 50 %, HBV mutants persisted. After replacement of famciclovir by lamivudine HBV replication was reduced below the detection limit. lamivudine was well tolerated and liver function improved. After successful combined kidney/liver transplantation the patient became HBsAg and HBV dna (detected by PCR) negative under continuous hyperimmune globulin and lamivudine treatment. Antiviral therapy with lamivudine may be useful in treatment of progressive liver disease associated with HBV core deletion mutants in renal allograft recipients and may enable successful liver transplantation.- - - - - - - - - - ranking = 0.030374927579783keywords = kidney (Clic here for more details about this article) |
3/67. Pulmonary hypertension in a child with juvenile-type autosomal recessive polycystic kidney disease.An 11 year-old girl, whose condition was diagnosed as juvenile-type autosomal recessive polycystic kidney disease (ARPKD) at five years of age, presented with chest pain and dyspnea that had developed suddenly two months previously. Two-dimensional echocardiography, doppler study and cardiac catheterization confirmed pulmonary hypertension. The underlying mechanism of the diagnosis was not defined. Two and a half months after the onset of symptoms, the patient died of pulmonary hypertensive crisis. Careful regular checks of cardiopulmonary status using two-dimensional echocardiography and Doppler should be considered for the early detection of pulmonary hypertension even in an asymptomatic patient with juvenile-type ARPKD.- - - - - - - - - - ranking = 22.598133404335keywords = polycystic kidney disease, polycystic kidney, kidney disease, polycystic, kidney (Clic here for more details about this article) |
4/67. Recurrent bacteremia with enteric pathogens in recessive polycystic kidney disease.Eight children with autosomal recessive polycystic kidney disease (ARPKD) and recurrent bacteremia with enteric pathogens are described. Typical clinical features of bacterial cholangitis were absent, although in five patients histological and/or microbiological data indicated that the bacteremic episodes originated in the biliary tree. bacteremia with enteric pathogens or recurrent culture-negative febrile illness in a child with ARPKD should raise suspicion of cholangitis, even in the absence of typical clinical findings.- - - - - - - - - - ranking = 22.598133404335keywords = polycystic kidney disease, polycystic kidney, kidney disease, polycystic, kidney (Clic here for more details about this article) |
5/67. liver transplantation in alpha(1)-antitrypsin deficiency.Only a minority of infants born with alpha(1)-antitrypsin deficiency will develop serious liver disease during childhood, mostly but not always after neonatal cholestasis. Early prognosis is difficult and all children have to be followed up carefully. The liver disease progresses with varying speed and it lacks specific features. At the time of liver transplantation the young patients have no pulmonary disease induced by the deficiency and in those with renal involvement, the kidney problems can mostly be dealt with by conservative therapy. The peri- and postoperative care of the patients who undergo liver transplantation does not differ from the usual routines.- - - - - - - - - - ranking = 0.0050624879299638keywords = kidney (Clic here for more details about this article) |
6/67. syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.We report on two sibs, both males, one born at 37 the other at 24 weeks of gestation, both with a syndrome similar to that seen in three sets of sibs by Gillessen-Kaesbach et al. [1993: Am J Med Genet 45:511-518]. Both propositi had polycystic kidneys and hepatic fibrosis indistinguishable from that seen in autosomal recessive polycystic kidney disease (ARPKD), and skeletal and facial anomalies. Skeletal abnormalities included "butterfly" vertebrae, square shape of pelvis, and brachymelia. The facial anomalies included hypertelorism, epicanthic folds, and anteverted nares. Additional external findings were apparently low-set ears and a short neck. Histopathological examination of the kidneys showed radial orientation and cystic dilatation of the cortical and medullar tubules. The liver showed "congenital hepatic fibrosis." The hepatic findings in the second infant were less severe. Renal abnormalities were limited to focal tubular cystic changes. Linkage analysis with polymorphic markers of the region 6p21.1-p12, flanking the gene locus of ARPKD, showed different haplotypes in the sibs, thus excluding the ARPKD gene locus in this family and indicating genetic heterogeneity.- - - - - - - - - - ranking = 11.279643965916keywords = polycystic kidney disease, polycystic kidney, kidney disease, polycystic, kidney (Clic here for more details about this article) |
7/67. Membranoproliferative glomerulonephritis in childhood cirrhosis associated with alpha1-antitrypsin deficiency.Three alpha1-antitrypsin (alpha1AT) deficient, protease inhibitor type ZZ children who died from cirrhosis and its complications had membranoproliferative glomerulonephritis at postmortem examination. During life, all three had clinical and laboratory evidence of renal disease which became apparent when hepatic decompensation developed. Immunofluorescence studies and electron microscopy performed in one patient revealed subendothelial deposits of alpha1AT, complement, and immune globulins along the glomerular basement membrane. The pathogenesis of these renal lesions is speculative. Glomerular lesions were not observed in kidney sections of 16 children who died from cirrhosis but who were not alpha1AT-deficient. The present study suggests that renal involvement may be yet another manifestation of disease associated with alpha1AT deficiency.- - - - - - - - - - ranking = 0.0050624879299638keywords = kidney (Clic here for more details about this article) |
8/67. Non-syndromic association of congenital hepatic fibrosis and bilateral cystic renal dysplasia.Congenital hepatic fibrosis (CHF) is associated with autosomal recessive polycystic kidney disease (ARPKD). Although cystic renal dysplasia (CRD) is the most common form of newborn cystic renal disease, this disorder of anomalous metanephric differentiation is only rarely found concurrent with CHF. Our literature review found only 13 sporadic and 12 familial non-syndromic cases of combined bilateral CRD and CHF reported outside taiwan. We report the first domestic case, occurring in a fetus of 18 weeks' gestational age, which was the second pregnancy of a 24-year-old mother with a previous history of spontaneous abortion at 10 weeks' gestational age. Postmortem autopsy confirmed the concurrence of bilateral CRD and CHF without associated anomalies of other visceral organs and external appearance. This particular association must be differentiated from ARPKD and liver disease, in regard to ultrasonographic examination and genetic counseling.- - - - - - - - - - ranking = 4.5196266808669keywords = polycystic kidney disease, polycystic kidney, kidney disease, polycystic, kidney (Clic here for more details about this article) |
9/67. Joubert syndrome: an affected female with bilateral colobomata.Joubert syndrome is an autosomal recessive disease characterised by hypoplasia or agenesis of the cerebellar vermis, a syndrome of episodic apnoea-hyperpnoea, rhythmic protrusion of the tongue, abnormal eye movements, hypotonia, ataxia, and psychomotor retardation. Extracerebral malformations include multicystic kidney disease, congenital hepatic fibrosis, sacral dermoid cyst and polydactyly. We report the clinical and pathological findings of a 15-year-old girl with Joubert syndrome diagnosed at autopsy. This patient had bilateral colobomata, which has not been previously described in females with Joubert syndrome.- - - - - - - - - - ranking = 0.30495617505035keywords = kidney disease, kidney (Clic here for more details about this article) |
10/67. LKM3 autoantibodies in hepatitis c cirrhosis: a further phenomenon of the HCV-induced autoimmunity.Chronic hepatitis c is frequently associated with laboratory markers-including LKM1 autoantibodies--of autoimmunity. A 62-yr-old woman with hepatitis c cirrhosis presented autoantibodies against liver and kidney microsomal proteins. By further evaluation of autoantibodies using ELISA and immunoblotting LKM1 and LKM3 autoantibodies could be revealed. The target antigen of LKM3 autoantibodies proved to be UGT-1.1 isoenzyme. In the absence of chronic hepatitis d infection or autoimmune hepatitis type 2, this is the first case that reports the occurrence of LKM3 autoantibodies in HCV-induced chronic liver disease.- - - - - - - - - - ranking = 0.0050624879299638keywords = kidney (Clic here for more details about this article) |
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