A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis
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Aynur Küçükçongar Yavaş
,
Büşra Çavdarlı
Abstract
Background
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an uncommon cholestatic liver disease caused by mutations in the ATP binding cassette subfamily B member 4 (ABCB4) gene. Although PFIC3 is frequently identified in childhood, ABCB4 disease-causing alleles have been described in adults affected by intrahepatic cholestasis of pregnancy, hormone-induced cholestasis, low-phospholipid-associated cholelithiasis syndrome or juvenile cholelithiasis, cholangiocarcinoma and in sporadic forms of primary biliary cirrhosis. Cholestanol is a biomarker which is elevated especially in cerebrotendinous xanthomatosis and rarely in primary biliary cirrhosis (PBC) and Niemann Pick type C.
Case presentation
Here we report a Turkish patient with compound heterozygous mutations in the ABCB4 gene, who has hepatosplenomegaly, low level of high-density lipoprotein, cholestasis and high level of cholestanol.
Conclusion
This is the first PFIC3 case with a high cholestanol level described in the literature. There are very few diseases linked to increased cholestanol levels, two of which are CTX and PBC. From this case, we can conclude that a high cholestanol level might be another indicator of PFIC type 3.
Author contributions: Aynur Küçükçongar Yavaş wrote the paper, Aynur Küçükçongar Yavaş, Özlem Ünal Uzun and Mehmet Gündüz collected the data of the case, Ayşen Uncuoğlu evaluated the case and organized the molecular test for PFIC type3, and Büşranur Çavdarlı analyzed the genetic test. All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
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Artikel in diesem Heft
- Frontmatter
- Reviews
- Occurrence and clinical management of nonalcoholic fatty liver disease in obesity patients: a literature review
- Does obesity have an effect on the ECG in children?
- Original Articles
- Factors associated with oxidative stress status in pediatric patients with type 1 diabetes mellitus
- The effect of concurrent resistance-aerobic training on serum cortisol level, anxiety, and quality of life in pediatric type 1 diabetes
- Psychiatric view for disorders of sex development: a 12-year experience of a multidisciplinary team in a university hospital
- Effect of high-dose vitamin D supplementation on antibody titers to heat shock protein 27 in adolescent girls
- Effects of whole-body vibration training on bone density and turnover markers in adolescent swimmers
- Estimations of total serum testosterone levels in Nigerian term neonates at birth using anogenital distance measurements
- Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing
- Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family
- Predictive value of thyroxine for prognosis in pediatric septic shock: a prospective observational study
- Case Reports
- First Scandinavian case of successful pregnancy during nitisinone treatment for type 1 tyrosinemia
- A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis
- Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy
- Hyperinsulinism hyperammonaemia (HI/HA) syndrome due to GLUD1 mutation: phenotypic variations ranging from late presentation to spontaneous resolution
- Corrigendum
- Corrigendum to: The effects of a 12-week jump rope exercise program on body composition, insulin sensitivity, and academic self-efficacy in obese adolescent girls
