ReviewMedicine2019
Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review.
Review in Medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 20 citations in OpenAlex.
- A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.Journal of atherosclerosis and thrombosis · 2026Article
- Genome sequencing identifies uniparental isodisomy of chromosome 2p and a homozygousBiomedical reports · 2025Article
- Psychiatric Manifestations in Children and Adolescents with Inherited Metabolic Diseases.Journal of clinical medicine · 2024Review
- Gene variants and clinical characteristics of children with sitosterolemia.Lipids in health and disease · 2024Article
- An infant with a heterozygous variant ofClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023Article
- Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.Journal of atherosclerosis and thrombosis · 2022Article
- Features of chinese patients with sitosterolemia.Lipids in health and disease · 2022Review
- [Clinical characteristics analysis of a case of sitosterolemia due to mutation of ABCG5 gene in a child with thrombocytopenia and abnormal liver function].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2021Article
- Seventeen years of misdiagnosis in rare dyslipidaemia: a case report of sitosterolaemia in a young female.European heart journal. Case reports · 2021Article
- Sitosterolemia With Atherosclerosis in a Child: A Case Report.Frontiers in pediatrics · 2021Article
- Risk of Non-Alcoholic Fatty Liver Disease in Xanthelasma Palpebrarum.Journal of inflammation research · 2021Article
- Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia.JIMD reports · 2020Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
rationaleSitosterolemia is a rare autosomal recessive disorder of dyslipidemia due to mutations of genes ABCG5 and ABCG8, leading to highly elevated plasma levels of plant sterols and expanded body pools of cholesterol. PATIENT CONCERNS: We present a 9-year-old and a 7-year-old Chinese boy with hypercholesterolemia and xanthomas of sitosterolemia due to ABCG5 gene mutations. We also make a literature review of another 30 sitosterolemic children cases that have been reported with virulence ABCG5 gene mutations. DIAGNOSIS: We took peripheral blood samples from 2 patients and their parents to conduct genetic analysis by next-generation sequencing (NGS) technologies.
interventionsThe 2 patients received dietary modifications without pharmaceuticals treatment. OUTCOMES: A c.1166G>A (Arg389His) homozygosis mutation in exon 9 was observed in case 1, whereas a c.751C>T (Gln251*) homozygosis mutation in exon 6 was found in case 2. Literature review found another 30 pediatric cases with sitosterolemia due to ABCG5 gene mutation. The lipid profile was normalized and xanthomas got smaller with combined therapy of a combined low-cholesterol and low-phytosterols diet. LESSONS: These suggested that in patients (especially Asian patients) with multiple xanthomas, severe hypercholesterolemia, or elevated low-density lipoprotein-cholesterol, sitosterolemia should be considered in the differential diagnosis. Early diagnosis is important, and restriction of both cholesterol and phytosterols diet should suggested for these patients.
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