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Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice
Valentina V Miroshnikova1,2, Petr A Vasiluev3, Svetlana V Linkova4
1Scientific Research Center, Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg 197022, Russia.
Insights
Sitosterolemia, a rare genetic disorder, was diagnosed in pediatric patients through Next-Generation Sequencing (NGS). This genetic testing identified specific ABCG8 gene variants, enabling crucial early management of high blood phytosterol levels.
Area of Science:
- Genetics
- Biochemistry
- Pediatrics
Background:
- Sitosterolemia is a rare autosomal-recessive genetic disorder.
- It is characterized by elevated blood concentrations of plant sterols and varied clinical manifestations.
- Pediatric cases are infrequently reported, often initially misdiagnosed as hypercholesterolemia.
Abstract:
Here, we report the pediatric cases of sitosterolemia, a rare autosomal-recessive genetic disorder, characterized by high concentrations of plant sterols in blood and heterogeneity manifestations. All three patients (two girls aged 2 and 6 years old, and one boy aged 14 years old) were initially diagnosed with hypercholesterinemia. Next-generation sequencing (NGS) revealed homozygous (p.Leu572Pro/p.Leu572Pro) and compound (p.Leu572Pro/p.Gly512Arg and p.Leu572Pro/p.Trp361*) variants in the ABCG8 gene that allowed for the diagnosis of sitosterolemia. Two patients whose blood phytosterol levels were estimated before the diet demonstrated high levels of sitosterol/campesterol (69.6/29.2 and 28.3/12.4 μmol/L, respectively). Here, we demonstrate that NGS-testing led to the proper diagnosis that is essential for patients' management. The variant p.Leu572Pro might be prevalent among patients with sitosterolemia in Russia.
