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Biomedical subjects

D Alagille

Publications and source records attributed to D Alagille.

At least 19 recordsLinked to original sources
PubMed1992

Pharmacokinetics and safety of a new solution of vitamin K1(20) in children with cholestasis.

In cholestatic diseases, the absorption of fat-soluble compounds, including vitamin K1(20), is low and periodic administration of vitamin K1(20) is often necessary. Due to the low absorption of vitamin K1(20) from the Konakion formulation, late hemorrhagic disease of the newborn also occurs especially after oral vitamin K1(20) prophylaxis with Konakion. We investigated the pharmacokinetics and the safety of a new formulation of vitamin K1(20) in a mixed micelles (MM) solution. Compared to the old formulation (Konakion) using Cremophor EL as a solubilizer, the higher vitamin K1(20) levels (as measured by HPLC) in serum obtained after oral administration of the MM formulation clearly demonstrate a superiority of this new formulation. Additionally, the elimination of Cremophor EL as well as of propylene glycol from the formulation avoids possible adverse effects associated with intravenous or intramuscular administration. Furthermore, in most cases, the discomfort of parenteral injections can be overcome by simple oral administration even in children with severe cholestasis.

Administration, Oral↗
PubMed1991

Late cholangitis after successful surgical repair of biliary atresia.

Bacterial cholangitis is a frequent complication of successful surgical repair of biliary atresia, occurring in 93% of patients before the age of 1 year, but thought to be rare after 2 years of age. Among 76 children free of jaundice more than 5 years after operation, four presented with late cholangitis (7 to 13.5 years old), consisting of fever, jaundice, and abdominal pain with biochemical features of an inflammatory process and cholestasis. Liver biopsy specimens consistently demonstrated histological features of cholangitis, growth of microorganism, or both. Cholangitis subsided spontaneously in one patient or in response to intravenous administration of antibiotics. Cholangiography consistently demonstrated biliary abnormalities but no definite obstruction to the bilioenteric anastomosis. All the children had good hepatic function 3 weeks to 4 years after the episode of cholangitis. These results suggest that cholangitis may occur several years after surgery but does not seem to alter prognosis.

Acute Disease↗
PubMed1991

Diagnostic value of serum gamma-glutamyl transpeptidase activity in liver diseases in children.

The clinical usefulness of serum gamma-glutamyl transpeptidase (gamma GT) assay for the diagnosis of liver disease in children was assessed retrospectively in 398 children investigated from 1981 to 1986, in whom diagnosis was ascertained according to currently accepted criteria including liver histology in each case. Serum gamma GT activity was within normal limits in 10 controls, in 19 children with portal vein obstruction, and in 10 of 12 children with congenital hepatic fibrosis. Serum gamma GT was raised in all children with biliary atresia, sclerosing cholangitis, paucity of interlobular bile ducts, and alpha 1-antitrypsin deficiency with jaundice. Serum gamma GT was normal in spite of patent clinical signs of cholestasis in 3 patients with benign recurrent intrahepatic cholestasis, 1 infant with post-hemolytic neonatal cholestasis, and in 22 of 28 patients with progressive idiopathic cholestasis akin to Byler disease. In the latter group, children with raised serum gamma GT displayed extensive portal fibrosis and bile duct proliferation on liver histology, while this was not a prominent feature in children with normal serum gamma GT. These results indicate (a) the value and limits of the assay for serum gamma GT activity in children with liver disease, (b) that raised serum gamma GT may be considered a fairly reliable index of bile duct damage, and (c) that serum gamma GT may prove a useful tool in separating two forms of progressive idiopathic cholestasis, with or without bile duct involvement.

Adolescent↗
PubMed1991

Familial cutaneous photosensitivity and colitis with lethal outcome.

Three sibs out of four, born to unrelated parents, developed early cutaneous photosensitivity and severe colitis. All of them died from untreatable diarrhoea. A fourth boy, whose father was different, did not have the same symptoms. The origin of this syndrome remains unclear and, in particular, no metabolic defect could be detected.

Colitis↗
PubMed1990

Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome).

An autosomal dominant transmission of arteriohepatic dysplasia, or Alagille syndrome, with reduced penetrance and variable expressivity has been suggested from familial pedigrees, but the nature of the genetic defect and its chromosomal localization are not firmly established. We report the case of an 8-year-old boy with arteriohepatic dysplasia, in whom high-resolution chromosome study showed a partial deletion of the short arm of chromosome 20, which encompasses subbands p11.23 to p12.3. In situ hybridization and Southern blotting localized four restriction fragment length polymorphism probes within the deletion and another one distal to the deletion. Because one patient has already been reported to have arteriohepatic dysplasia and deletion of the short arm of chromosome 20, and six additional patients with such a deletion had major features of Alagille syndrome, this syndrome should now be assigned to chromosome 20p.

Bile Ducts↗
PubMed1978

Hereditary fructose intolerance in childhood. Diagnosis, management, and course in 55 patients.

The early manifestations of hereditary fructose intolerance are described in a series of 55 patients. Management of this metabolic disorder depends on the severity of liver impairment. When the patients are given a fructose-free diet, the improvement is a dramatic but liver enlargement and fatty vacuolization of liver cells often persist. These hepatic findings were also observed in the five homozygous infants who were given a fructose-free diet from birth; this outcome may support the hypothesis that minimal amounts of fructose are esential for human beings.

Carbohydrate Metabolism, Inborn Errors↗
PubMed1978

Hepatitis B in children. I. Analysis of 80 cases of acute and chronic hepatitis B.

From 1971 to 1975, HBV-induced hepatitis was observed in 80 children. The diagnosis was based upon the detection in serum of HBsAg and/or the secondary occurrence of anti-HBs. Thirty-one patients presented with acute viral hepatitis, 16 with severe or fulminant hepatitis, 17 with chronic persistent hepatitis, 12 with chronic active hepatitis, and 4 were asymptomatic chronic carriers of HBsAg. Twenty-nine of 80 children were under one year of age (36%), the peak of frequency occurring from 2 to 5 months. The source of infection, determined in 27 of 29 infants, was administration of blood derivatives in 15 cases and contact with an HBsAg carrier mother in nine instances. In the latter type, the incubation time (103 days) was compartible with an oral route of infection, Persistent antigenemia occurred in only 3 of 29 patients. The overt type of disease developed by most infants, as well as the small number of patients who became HBsAg carriers, suggest that the carrier state, often encountered in neonatally infected infants in other countries, may be related to environmental or genetic factors rather than to immaturity of theimmune system.

Acute Disease↗
PubMed1978

Case of congenital nonobstructive, nonhaemolytic jaundice. Successful long-term phototherapy at home.

Use of cholestyramine made it possible to shorten the daily duration of phototherapy in a case of congenital nonobstructive, nonhaemolytic jaundice. Treatment at home was therefore possible, allowing normal parental care. Development and neurological examinations were normal at the age of 27 months. Frequent determinations of reserve bilirubin binding capacity may be useful in controlling such management.

Bilirubin↗
PubMed1978

[Severe viral hepatitis in childhood: course and prognosis].

In 22 children with severe acute viral hepatitis, the course of the disease followed 3 patterns: 8 children completely yielded (regenerative hepatitis); 8 died during the first three weeks of evolution (aregenerative hepatitis); 8 had a prolonged evolution (hyporegenerative hepatitis). In the latter group, 6 patients died after an average survival time of 55 days and 2 patients rapidly developped a cirrhosis. This type of evolution was characterized by persistence of liver failure manifestations, in spite of liver regeneration, as indicated by increased levels of alpha-foetoprotein and presence of pseudo-acini, giantcells and nodules at histological examination. During the second week of evolution, the size of liver, levels of clotting factors VII +X and alpha-foetoprotein concentrations seem to constitute important prognostic factors.

Child↗
PubMed1977

Congenital abnormalities associated with extrahepatic portal hypertension.

Congenital abnormalities were present in 12 out of 30 (40%) children with extrahepatic portal hypertension of unknown cause, but in only 2 out of 17 (12%) children with extnahepatic portal hypertension secondary to umbilical vein catheterization or omphalitis. The most frequent abnormalities in this series and in published reports were atrial septal defect, malformation of the biliary tract, and anomalous inferior vena cava. These findings are consistent with the view that some cases with extrahepatic portal hypertension are congenital in origin.

Adolescent↗
PubMed1976

Hepatic porto-enterostomy or cholecystostomy in the treatment of extrahepatic biliary atresia. A study of 49 cases.

Hepatic porto-enterostomy or cholecystostomy (Kasai's procedure) was successful in restoring bile flow in 31 of 49 patients with "noncorrectable" extrahepatic biliary atresia. However, all but one of the 31 developed acute or chronic complications such as cholangitis, bile peritonitis, or portal hypertension. During a five-year follow-up period, 26 (53%) died while 9 of the 23 survivors continue to manifest chronic or recurrent cholangitis. Thirteen of the 19 survivors who are more than one year of age have developed portal hypertension. These complications limit the prognosis of infants with "noncorrectable" biliary malformations.

Bile Ducts↗
PubMed1976

Alpha1-antitrypsin deficiency and liver disease in children: phenotypes, manifestations, and prognosis.

Among 424 children with liver disease, 20 had alpha1-antitrypsin deficiency associated with protease inhibitor ZZ phenotype. This disorder manifested itself as cholestasis in early infancy in 19 children. Jaundice and pruritus cleared in 16 of these by 7 months of age, but hepatomegaly and laboratory evidence of mild hepatic dysfunction persisted in all. Biliary cirrhosis and portal hypertension eventually developed or was suspected in eight, and hypoplasia of intraheptic bile ducts was demonstrated in another four. Routine screening revealed intermediate alpha1-antitrypsin deficiency in 16 other children with various types of liver disease. The phenotype in these patients was MZ, MS, or SZ. PAS-positive granules were present in liver of all patients with the ZZ phenotype and in none with other phenotypes. The findings indicate that manifestations and prognosis of this inherited liver disease are extremely variable.

Adolescent↗