Liver disease in infancy caused by oxysterol 7α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2014-09

AUTHORS

Dongling Dai, Philippa B. Mills, Emma Footitt, Paul Gissen, Patricia McClean, Jens Stahlschmidt, Isabelle Coupry, Julie Lavie, Fanny Mochel, Cyril Goizet, Tatsuki Mizuochi, Akihiko Kimura, Hiroshi Nittono, Karin Schwarz, Peter J. Crick, Yuqin Wang, William J. Griffiths, Peter T. Clayton

ABSTRACT

A child of consanguineous parents of Pakistani origin developed jaundice at 5 weeks and then, at 3 months, irritability, a prolonged prothrombin time, a low albumin, and episodes of hypoglycaemia. Investigation showed an elevated alanine aminotransferase with a normal γ-glutamyl-transpeptidase. Analysis of urine by electrospray ionisation tandem mass spectrometry (ESI-MS/MS) showed that the major peaks were m/z 480 (taurine-conjugated 3β-hydroxy-5-cholenoic acid) and m/z 453 (sulphated 3β-hydroxy-5-cholenoic acid). Analysis of plasma by gas chromatography-mass spectrometry (GC-MS) showed increased concentrations of 3β-hydroxy-5-cholenoic acid, 3β-hydroxy-5-cholestenoic acid and 27-hydroxycholesterol, indicating oxysterol 7 α-hydroxylase deficiency. The patient was homozygous for a mutation (c.1249C>T) in CYP7B1 that alters a highly conserved residue in oxysterol 7 α-hydroxylase (p.R417C) - previously reported in a family with hereditary spastic paraplegia type 5. On treatment with ursodeoxycholic acid (UDCA), his condition was worsening, but on chenodeoxycholic acid (CDCA), 15 mg/kg/d, he improved rapidly. A biopsy (after 2 weeks on CDCA), showed a giant cell hepatitis, an evolving micronodular cirrhosis, and steatosis. The improvement in liver function on CDCA was associated with a drop in the plasma concentrations and urinary excretions of the 3β-hydroxy-Δ5 bile acids which are considered hepatotoxic. At age 5 years (on CDCA, 6 mg/kg/d), he was thriving with normal liver function. Neurological development was normal apart from a tendency to trip. Examination revealed pes cavus but no upper motor neuron signs. The findings in this case suggest that CDCA can reduce the activity of cholesterol 27-hydroxylase - the first step in the acidic pathway for bile acid synthesis. More... »

PAGES

851-861

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10545-014-9695-6

DOI

http://dx.doi.org/10.1007/s10545-014-9695-6

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1048876648

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24658845


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