Rare Diseases Symptoms Automatic Extraction

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

[benign recurrent intrahepatic cholestasis]

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 P450 3A4, and stimulation of 6α-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 1β-hydroxylated cholic acid, 2β-hydroxylated cholic acid, 4β-hydroxylated cholic acid, 6α-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/2210delA) in the ATP8B1 gene. Rifampicin was effective in treating cholestasis. Results of urinary bile acid analyses during rifampicin treatment in this patient, suggested that rifampicin might stimulate 1β-, 2β-, and 4β-hydroxylation of bile acids in addition to 6α-hydroxylation.

Diseases presenting "recurrent episodes" symptom

  • acute rheumatic fever
  • adrenomyeloneuropathy
  • benign recurrent intrahepatic cholestasis
  • child syndrome
  • cholangiocarcinoma
  • cystinuria
  • familial mediterranean fever
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kabuki syndrome
  • neuralgic amyotrophy
  • pyruvate dehydrogenase deficiency
  • systemic capillary leak syndrome
  • triple a syndrome

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