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Bernhard, W.* ; Shunova, A.* ; Machann, J. ; Grimmel, M.* ; Haack, T.B.* ; Utz, P.* ; Graepler-Mainka, U.*

Resolution of severe hepatosteatosis in a cystic fibrosis patient with multifactorial choline deficiency: A case report.

Nutrition 89:111348 (2021)
Postprint DOI PMC
Open Access Green
In cystic fibrosis (CF), 85% to 90% of patients develop exocrine pancreatic insufficiency. Despite enzyme substitution, low pancreatic phospholipase A2 (sPLaseA2-IB) activity causes fecal loss of bile phosphatidylcholine and choline deficiency. We report on a female patient who has CF and progressive hepatosteatosis from 4.5 y onward. At 22.3 y, the liver comprised 27% fat (2385 mL volume) and transaminases were strongly increased. Plasma choline was 1.9 µmol/L (normal: 8-12 mol/L). Supplementation with 3 ×  1g/d choline chloride decreased liver fat and volume (3 mo: 8.2%; 1912 mL) and normalized transaminases. Plasma choline increased to only 5.6 µmol/L upon supplementation, with high trimethylamine oxide levels (12-35 µmol/L; normal: 3 ± 1 mol/L) proving intestinal microbial choline degradation. The patient was homozygous for rs12325817, a frequent single-nucleotide polymorphism in the PEMT gene, associated with severe hepatosteatosis in response to choline deficiency. Resolution of steatosis required 2 y (4.5% fat). Discontinuation/resumption of choline supplementation resulted in rapid relapse/resolution of steatosis, increased transaminases, and abdominal pain.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Review
Korrespondenzautor
Schlagwörter Bile ; Cf ; Choline ; Enterohepatic Cycle ; Lipoproteins ; Phosphatidylcholine ; Steatosis ; Rs12325817; Liver-disease; Phosphatidylcholine; Requirement; Diagnosis; Children
ISSN (print) / ISBN 0899-9007
e-ISSN 1873-1244
Zeitschrift Nutrition
Quellenangaben Band: 89, Heft: , Seiten: , Artikelnummer: 111348 Supplement: ,
Verlag Elsevier
Verlagsort New York, NY
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Diabetes Research and Metabolic Diseases (IDM)