Byler Disease

Clayton, Robert J.

doi:10.1001/archpedi.1969.02100030114014

Cited by 253 publications

(15 citation statements)

References 14 publications

(5 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The appearance of the other components of the hepatocyte-that is, the sinusoidal pole, the Golgi apparatus, the cytosomes, and the endoplasmic reticulum-was analogous to the data reported by Clayton et al, 1969;Williams et al, 1972;Linarelli etal., 1972.…”

Section: Optical Microscopysupporting

confidence: 83%

“…As with previously reported data (Clayton et al, 1969;Linarelli et al, 1972;Williams et al, 1972), Ultra-thin sections were cut and stained for morphological study (Watson, 1958;Reynolds, 1963).…”

Section: Electron Microscopymentioning

confidence: 98%

“…Although eight out of 18 reported cases belong to the Amish kindred (Clayton et al, 1969;Linarelli et al, 1972) the affection seems not limited to one race or family (Gray and Saunders, 1966;Juberg et al, 1966;Hirooka and Ohno, 1968;Williams et al, 1972). The purpose of this paper is to report the clinical and morphological findings in a patient of Moroccan origin.…”

mentioning

confidence: 89%

See 2 more Smart Citations

Progressive intrahepatic cholestasis (Byler's disease): case report.

Vos¹,

Wolf‐Peeters²,

Desmet³

et al. 1975

Gut

View full text Add to dashboard Cite

943and craniotabts were present (Fig. 1). The liver was hard and palpable 2 cm below the costal margin. The spleen could not be felt. Over the two years of observation scratching and unexplained fever up to 38-39 'C were continuously noticed (Fig. 2). Subcutaneous haemorrhages with hypoprothrombinaemia occurred at the age of 5 and 25 months respectively. Up to the age of 1 year total serum bilirubin remained below 1 mg % (Fig. 3). The stools were intermittently gray or white and the urine contained urobilinogen and on some occasions bilirubin. Thin layer chromatography of ethyl anthranilate azopigment extracts of the duodenal fluid showed presence of the fl-compound and increase of the 'y-fraction which is suggestive for cholestasis: oto 13.1, oci P0, 0x2 09, 0t 333, ,B 6 1, y 27.9 and 8 47*7 % (Fevery et al., 1972). At the end of the first year, transaminases were moderately raised. Serum nucleotidase remained as low as 1*7-13 IU/l. At the age of 71 months, bile salts in the serum and duodenal content were 82 ,ug (normal value 1 gg) and 150 ,ug (normal value 3-5 mg) per ml respectively. On two more occasions, no bile salts were detectable in yellow stained duodenal fluid samples. The daily urinary excretion of bile salts was 24.7 mg of which chenodeoxycholic acid and cholic acid made up 12-6 % and 87-4 % respectively. No lithocholic acid could be detected. After the age of 1 year serum bile acids were studied only once and were 107 ,ug/ml. The percentage of sulfobromo-

show abstract

Section: Optical Microscopysupporting

confidence: 83%

Section: Electron Microscopymentioning

confidence: 98%

mentioning

confidence: 89%

See 1 more Smart Citation

Progressive intrahepatic cholestasis (Byler's disease): case report.

Vos¹,

Wolf‐Peeters²,

Desmet³

et al. 1975

Gut

View full text Add to dashboard Cite

show abstract

“…In some circumstances, however, a disease gene can be mapped by observing marker-haplotype sharing among affected individuals. In this paper, we describe the way in which such haplotype evaluation has been used to localize precisely the benign recurrent intrahepatic cholestasis (BRIC)/progressive familial intrahepatic cholestasis type 1 (PFIC1) gene (Clayton et al 1969;Summerskill 1965).…”

Section: Introductionmentioning

confidence: 99%

“…PFIC was first described in an Amish kindred (Clayton et al 1969). The Amish community was founded a few hundred years ago by a small number of individuals and, for religious and cultural reasons, has remained genetically isolated.…”

Section: Introductionmentioning

confidence: 99%

Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC

et al. 1999

View full text Add to dashboard Cite

Loci for two inherited liver diseases, benign recurrent intrahepatic cholestasis (BRIC) and progressive familial intrahepatic cholestasis type 1 (PFIC1), have previously been mapped to 18q21 by a search for shared haplotypes in patients in two isolated populations. This paper describes the use of further haplotype evaluation with a larger sample of patients for both disorders, drawn from several different populations. Our assessment places both loci in the same interval of less than 1 cM and has led to the discovery of the PFIC1/BRIC gene, FIC1; this discovery permits retrospective examination of the general utility of haplotype evaluation and highlights possible caveats regarding this method of genetic mapping.

show abstract

Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24

et al. 2000

View full text Add to dashboard Cite

Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive liver disease characterized by multiple episodes of cholestasis without progression to chronic liver disease. On the basis of recent evidence of locus heterogeneity, we studied 19 subjects (7 affected members) of a BRIC family. Male-to-male transmission and the presence of affected females suggested autosomal dominant inheritance. Blood samples were collected after informed consent. Subjects were genotyped by using markers mapping to 18q and 2q24 region, respectively, where the genes FIC1 and FIC2 have been mapped. Segregation of haplotypes excluded the two regions in our family. These findings suggest further genetic heterogeneity of the origin of BRIC.

show abstract

Byler Disease

Cited by 253 publications

References 14 publications

Progressive intrahepatic cholestasis (Byler's disease): case report.

Progressive intrahepatic cholestasis (Byler's disease): case report.

Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC

Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24

Contact Info

Product

Resources

About