Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis.

Abstract excerpt

BACKGROUND: Sitosterolemia (STSL) is a rare autosomal recessive disorder caused by mutations in ABCG5 or ABCG8, characterized by hemolytic anemia, xanthomas, and atherosclerosis. Nephronophthisis (NPHP), another autosomal recessive disorder, is characterized by its devastating progression toward renal failure. METHODS: We analyzed the clinical, laboratory, and genetic data of a Chinese boy with concurrent STSL...

Topics

• Humans
• Lipid Metabolism, Inborn Errors
• Male
• ATP Binding Cassette Transporter, Subfamily G, Member 8
• Phenotype
• ATP Binding Cassette Transporter, Subfamily G, Member 5