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Characterization of urinary bile acids in a pediatric BRIC-1 patient: effect of rifampicin treatment


, : Characterization of urinary bile acids in a pediatric BRIC-1 patient: effect of rifampicin treatment. Clinica Chimica Acta; International Journal of Clinical Chemistry 413(15-16): 1301-1304

Benign recurrent intrahepatic cholestasis type 1 (BRIC-1), a rare autosomal recessive disorder characterized by recurrent episodes of jaundice and pruritus, is caused by mutations in the ATP8B1 gene. Rifampicin has been reported to be an effective treatment of jaundice and pruritus in patients with BRIC. Proposed mechanisms of effect for rifampicin include enhancement of multidrug-resistance protein 2 expression, activation of the enzymes of uridine diphosphate glucuronosyltransferase 1A1 and cytochrome P45 3A4, and stimulation of 6?-hydroxylation of bile acids. To confirm the diagnosis of BRIC-1 and demonstrate the effect of rifampicin treatment on bile acid metabolism, we analyzed the patient's ATP8B1 gene and bile acids in urine. We detected 2 heterozygous mutations in the ATP8B1 gene, and increasing amounts of unusual bile acids such as 1?-hydroxylated cholic acid, 2?-hydroxylated cholic acid, 4?-hydroxylated cholic acid, 6?-hydroxylated cholic acid, and hyocholic acid in urine during rifampicin treatment. We diagnosed a jaundiced pediatric patient with BRIC-1 caused by 2 novel mutations (1226delA/221delA) in the ATP8B1 gene. Rifampicin was effective in treating cholestasis. of urinary bile acid analyses during rifampicin treatment in this patient, suggested that rifampicin might stimulate 1?-, 2?-, and 4?-hydroxylation of bile acids in addition to 6?-hydroxylation.

US$19.90

PMID: 22525741

DOI: 10.1016/j.cca.2012.04.011


Other references

Denno, R.F.; Peterson, M.A., 1995: Density-dependent dispersal and its consequences for population dynamics. Unknown

Macieira-Coelho, E.; Madeira, H.; Coelho, P.; Garcia-Alves, M.; Sobrinho, L.; Pádua, F., 1996: Hypertrophic subaortic stenosis and hyperparathyroidism. European Heart Journal 17(11): 1763-1764

Debling, D.; Amelang, M.; Hasselbach, P.; Stürmer, T., 2005: Assessment of cognitive status in the elderly using telephone interviews. Being in touch with severely demented patients requires a fundamental transformation in communication habits in medicine and in nursing. There is a need of reorientation away from an interpreting and often deficit-oriented aspect of communication...

Baker, L.H.; Arvidson, R.B., 1963: Diallel crosses of inbred lines of egg-type poultry repeated over locations and years. I. The relative importance of different kinds of genetic effects. Because genotype and environment have interacting effects on the phenotypic expression of quantitative characteristics, the data from a specific experiment pertain only to the genetic variance of the population with reference to the environment (s...

Elliott, F.C., 1982: Nursing interventions to improve adjustment to aging. Rehabilitation Nursing 7(2): 14-19

Tsai, H.C.; Hwu, Y-Juen.; Yu, P-Jui.; Chen, M-Tse.; Shih, W-Pin., 2011: Development and implementation of a professional wound care training program for nurses in Taiwan. Advances in Skin & Wound Care 23(10): 464-470

Cogan, D.; Birjandtalab, J.; Nourani, M.; Harvey, J.; Nagaraddi, V., 2016: Multi-Biosignal Analysis for Epileptic Seizure Monitoring. NlmCategory="UNASSIGNED">Persons who suffer from intractable seizures are safer if attended when seizures strike. Consequently, there is a need for wearable devices capable of detecting both convulsive and nonconvulsive seizures in ev...

Kukura, J.; Renker, K., 1977: Foundations for the further development of socialist health protection. Zeitschrift für die Gesamte Hygiene und Ihre Grenzgebiete 23(11): 797-804

Semina, S.N.; Babkina, V.M., 1981: Resistance of Chrysanthemum to powdery mildew. Varieties highly resistant to Oidium chrysanthemi are listed.

Klymnyuk, S.I.; Smirnov, V.V., 1997: Action of Bacterial-Antagonists on Aerobic Microflora of Human skin. The authors have investigated antagonistic action of museum strains-antagonists Bacillus subtilis 28%, B. licheniformis 254 and Escherichia coli M-17 against 698 strains of staphylococci 518 micrococci, 315 corynebacteria, 74 aerobic bacilli and 2...