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Query: UMLS:C0008370 (cholestasis)
 9,378 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hepatobiliary scintigraphy with 99mTc-IDA derivatives was used to evaluate 40 neonates with mixed jaundice. Fourteen patients proved to have biliary atresia. The remaining 26 patients had intrahepatic cholestasis with patent extrahepatic ducts. Sixteen of the 40 patients underwent examinations without phenobarbital stimulation. Sixteen patients had two examinations, one before and one after 3-7 days of phenobarbital therapy. The remaining 8 patients had their initial examinations after phenobarbital therapy. The results of this study show that administration of phenobarbital in a dose of 5 mg/kg/day for at least 5 days prior to the examination enhances and accelerates biliary excretion of IDA compounds and thereby significantly increases the accuracy of 99mTc-IDA scintigraphy in differentiating extrahepatic biliary atresia from neonatal hepatitis. Its routine use in the evaluation of neonatal jaundice is therefore highly recommended.
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PMID:Effect of phenobarbital on 99mTc-IDA scintigraphy in the evaluation of neonatal jaundice. 728 Jul 2

Presently, radionuclide imaging in hepatobiliary disease is mainly used to evaluate the functional aspect in hepatobiliary disease. For the evaluation of hepatic function, three kinds of radiopharmaceuticals are now commercially available: these are the Kupffer-cell oriented radiotracer of 99mTc-colloid, the hepatocyte oriented radiotracer of 99mTc-PMT, and the receptor-binding radiopharmaceutical of 99mTc-GSA. These radiopharmaceuticals must be properly used, according to the purposes. 99mTc-PMT can be used to determine the degree of functional disorder in acute hepatic disease and evaluate the severity of diffuse hepatic disease, whereas 99mTc-colloid can effectively evaluate the potential etiology of the disease process and its chronicity. And 99mTc-GSA may also be used to evaluate the severity of the disease. In particular, the hepatic functional reserve must be evaluated with 99mTc-GSA. The biliary patency from the intrahepatic bile canaliculi to the common bile duct can be effectively evaluated with 99mTc-PMT. The diagnosis of acute cholecystitis is most reliably made by radionuclide imaging. And radionuclide imaging is sometimes to be used for the differentiation of cholestasis. In particular, the discrimination among the disease entities of chronic intermittent intrahepatic cholestasis including primary biliary cirrhosis, primary sclerosing cholangitis and juvenile intrahepatic bile duct hypoplasia can be made. Moreover, it is also be used in evaluating constitutional hyperbilirubinemia, biliary leakage, infantile jaundice and gallbladder or syphinctor Oddi motor dysfunction.
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PMID:[Radionuclide imaging in hepatobiliary disease]. 767 71

Technetium-99m mebrofenin hepatobillary excretory patterns were assessed in 36 infants with hyperbilirubinemia. Phenobarbital was administered to 22 patients before imaging. Final diagnoses included: intrahepatic cholestasis (14 patients), neonatal hepatitis (nine patients), biliary atresia (eight patients), alpha-1-antitrypsin deficiency (two patients), Alagille's syndrome (two patients), and cystic fibrosis (one patient). No patient with biliary atresia showed bowel activity by 24 hours. Of the 28 infants without biliary atresia, 23 (82%) had bowel activity visualized by 6-8 hours and 26 (90%) had bowel activity by 24 hours. Two had no bowel activity at 24 hours: one had cystic fibrosis and one had neonatal hepatitis. Of the 26 patients with bowel visualization, the time to visualize bowel did not differ between patient groups with and without phenobarbital induction. All of the patients with hepatitis, including those with marked dysfunction, showed good hepatic uptake. Mebrofenin scintigraphy is an important imaging technique in the diagnostic evaluation of infants with hyperbilrubinemia. In addition to biliary atresia, intrahepatic cholestasis due to cystic fibrosis and severe neonatal hepatitis may also cause bowel nonvisualization up to 24 hours. The results of this study suggest phenobarbital induction may not be needed when Tc-99m mebrofenin scintigraphy is used for the assessment of infantile jaundice.
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PMID:Utility of Tc-99m mebrofenin scintigraphy in the assessment of infantile jaundice. 772 Mar 8

"Bronze baby" syndrome is a rare complication of phototherapy for neonatal jaundice occurring due to modified liver function, particularly cholestasis, of various origins. We report a case which occurred in a premature infant who developed a grey-brown coloration during phototherapy. The infant had haemolytic jaundice due to Rhesus incompatibility complicated by cholestasis of thick bile fluid. Abnormal accumulation of unexcreted photoproducts due to the cholestasis appeared to be the cause of the bronze coloration. The clinical course was favourable and the skin coloration returned to normal a few weeks after the end of the phototherapy. It is essential to identify the underlying liver disease in order to determine the prognosis of this syndrome.
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PMID:["Bronze baby" syndrome]. 775 16

Technetium Tc-99m disofenin cholescintigraphy (CS) and ultrasonography (US) are two major clinical methods used in differentiating biliary atresia (BA) from neonatal jaundice. To compare the diagnostic utility of these two modalities, 66 patients with neonatal cholestasis (15 BA, 3 choledochal cyst (CC), 32 neonatal hepatitis, 13 prolonged jaundice, 2 total parenteral nutrition, and 1 sepsis) underwent Tc-99m disofenin CS and US. The diagnostic sensitivity, specificity, and accuracy of CS in differentiating BA from other forms of neonatal jaundice was 100%, 87.5%, and 90.5%, respectively, and for US 86.7%, 77.1%, and 79.4%, respectively. Tc-99m disofenin CS after premedication with phenobarbital and cholestyramine is a convenient and reliable method of differentiating BA from neonatal hepatitis, with a diagnostic accuracy superior to that of US. However, US is the initial imaging procedure of choice in patients presenting with jaundice to rule out anatomic anomalies such as CC.
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PMID:Comparison technetium of Tc-99m disofenin cholescintigraphy with ultrasonography in the differentiation of biliary atresia from other forms of neonatal jaundice. 903 6

Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. Also referred to as the Alagille-Watson syndrome, syndromic bile duct paucity, and arteriohepatic dysplasia, it is a significant cause of neonatal jaundice and cholestasis in older children. In the fully expressed syndrome, affected subjects have intrahepatic bile duct paucity and cholestasis, in conjunction with cardiac malformations (most frequently peripheral pulmonary stenosis), ophthalmological abnormalities (typically of the anterior chamber with posterior embryotoxon being the most common), skeletal anomalies (most commonly butterfly vertebrae), and characteristic facial appearance. Inheritance is autosomal dominant, but expressivity is highly variable. Sibs and parents of probands are often found to have mild expression of the presumptive disease gene, with abnormalities of only one or two systems. The frequency of new mutations appears relatively high, estimated at between 15 and 50%. The disease gene has been mapped to chromosome 20 band p12 based on multiple patients described with cytogenetic or molecular rearrangements of this region. However, the frequency of detectable deletions of 20p12 is low (less than 7%). Progress has been made in the molecular definition of an Alagille syndrome critical region within the short arm of chromosome 20. We will review the clinical, genetic, cytogenetic, and molecular findings in this syndrome.
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PMID:Alagille syndrome. 903 94

Cataplexy usually occurs as a part of the tetrad of clinical phenomena of idiopathic narcolepsy. Symptomatic cases are rare. A 4 years old girl from consangineous parents had recurrent loss of muscle tone and fell to the ground, when she laughed. The EEG was normal. Prolonged neonatal jaundice with cholestasis, hepatosplenomegaly, mental regression, supranuclear ophthalmoplegia, and foam cells led to the diagnosis of Niemann-Pick disease type C with symptomatic cataplexy. Symptomatic forms of the narcolepsy-cataplexy complex should be considered, when there is an early onset before puberty, cataplectic attacks predominate the narcoleptic attacks, and when additional neurological symptoms occur. Symptomatic cataplexy occurs in Niemann-Pick disease type C. It is considered to be the result of lesions of the pontine reticular formation.
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PMID:[Cataplexy in type C Niemann-Pick disease]. 919 75

Quantitative analyses were performed on paediatric HIDA scans (EHIDA and DISIDA) to measure the flow rates of HIDA into and out of the liver. Analysis of the tracer outflow rate indicated that HIDA appeared to leave the liver even when there was complete biliary obstruction, implying 'leakage' from hepatocytes back into the blood. This potentially explains why a 'hepatogram' does not provide useful information about hepatic obstruction, whereas a renogram does yield useful information about renal outflow obstruction. In a small group of patients with no evidence of either hepatocellular disease or obstruction, the HIDA inflow rate into the liver was 0.003072 s(-1), which is similar to published colloid uptake rates in normal livers. This implies that although the two radiopharmaceuticals are taken up by different mechanisms, both mechanisms have a very similar extraction fraction. Patients with cirrhosis had a considerably reduced HIDA uptake rate (0.001072 s[-1]), and once again this was similar to colloid uptake from the blood in cirrhosis. Patients investigated for neonatal jaundice all showed reduced HIDA inflow, and this reduction was greatest (mean 0.000477 s[-1]) in those neonates whose jaundice was due to hepatocellular impairment. In biliary atresia, the HIDA rate was reduced to approximately 0.001040 s(-1), which was still considerably higher than the rate from patients with neonatal jaundice due to sufficient hepatocellular impairment to cause complete cholestasis.
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PMID:HIDA kinetics in children. 925 27

Deficiency of 3beta-hydroxy-delta5-C27-steroid dehydrogenase (3beta-HSDH), the enzyme that catalyses the second reaction in the principal pathway for the synthesis of bile acids, has been reported to present with prolonged neonatal jaundice with the biopsy features of neonatal hepatitis. It has also been shown to present between the ages of 4 and 46 months with jaundice, hepatosplenomegaly, and steatorrhoea (a clinical picture resembling progressive familial intrahepatic cholestasis). This paper reports two children with 3beta-HSDH deficiency who developed rickets during infancy and did not develop clinically evident liver disease until the age of 3 years. Bile acid replacement resulted in considerable clinical and biochemical improvement. The importance of thorough investigation of fat soluble vitamin deficiencies in infancy is emphasised.
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PMID:An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets. 1020 55

Neonatal jaundice may indicate cholestasis rather than a benign, physiological condition. Any four-week-old newborn with persistent jaundice should have a fractionated bilirubin screen to determine whether the hyperbilirubinemia is unconjugated. Conjugated hyperbilirubinemia, a hallmark of neonatal cholestasis, is pathological and requires further investigation. These infants need prompt diagnosis, early intervention and careful follow-up to ensure continued growth and development. Recent progress in the physiology of bile flow is reviewed, and the evaluation and management of neonatal cholestasis are summarized. Further advances in delineating the cellular and molecular processes that regulate bile acid metabolism in both health and disease will lead to a greater understanding of the conditions causing neonatal cholestasis. Unravelling the etiopathogenesis of these neonatal cholestatic disorders will allow the development of novel diagnostic and therapeutic interventions that ultimately will effectuate the prognosis for these young patients.
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PMID:Neonatal cholestasis: a red alert for the jaundiced newborn. 1111 Jun 15


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