Abstract | BACKGROUND: CASE PRESENTATION: A 5-month-7-day-old Chinese baby from non-consanguineous parents was referred for progressive cholestasis and prolonged prothrombin time from one month of age. Genetic testing revealed compound heterozygous mutations c.187C > T(p.R63X)/c.334C > T(p.R112X) in CYP7B1, and fast atom bombardment mass spectrometry analysis of the urinary bile acid confirmed the presence of atypical hepatotoxic 3β-hydroxy-Δ5-bile acids. While awaiting liver transplantation she was orally administered chenodeoxycholic acid. Her liver function rapidly improved, urine atypical bile acids normalized, and she thrived well until the last follow-up at 23 months of age. Her 15-year-old brother, with no history of infantile cholestasis but harboring the same mutations in CYP7B1, had gait abnormality from 13 years of age. Neurological examination revealed hyper-reflexia and spasticity of the lower limbs. Brain MRI revealed enlarged perivascular space in the bilateral basal ganglia and white matter of frontal parietal. CONCLUSIONS: In summary, these findings highlight that the phenotype of CYP7B1 deficiency varies widely, even in siblings and that early administration of chenodeoxycholic acid may improve prognosis.
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Authors | Yun-Ping Tang, Jing-Yu Gong, Kenneth D R Setchell, Wujuan Zhang, Jing Zhao, Jian-She Wang |
Journal | BMC gastroenterology
(BMC Gastroenterol)
Vol. 21
Issue 1
Pg. 163
(Apr 13 2021)
ISSN: 1471-230X [Electronic] England |
PMID | 33849447
(Publication Type: Journal Article)
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Chemical References |
- Bile Acids and Salts
- Oxysterols
- Chenodeoxycholic Acid
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Topics |
- Adolescent
- Bile Acids and Salts
- Chenodeoxycholic Acid
(therapeutic use)
- Female
- Humans
- Infant
- Liver Diseases
- Liver Transplantation
- Male
- Oxysterols
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