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The Liquid Crystalline in Normal Renal Development Amplifies the Comprehension for Anderson-Fabry Disease

Maltese-cross appearance of birefringent molecule configuration has become a typical diagnostic characteristic used to evaluate the kidney complications of Anderson-Fabry disease, an Xq22.1-linked recessive disorder. Accumulation of glycophospho- or glycosphingolipids in blood vessels seriously damages the glomerular filtration barrier and is responsible for proteinuria. Interestingly, our recent work has demonstrated that birefringent bodies also signify in the mesonephros and metanephros during kidney organogenesis, and characterized as liquid crystal in the configuration of concentric lamellation in the cytoplasm of epithelial cells and the lumen of proximal tubules. Study of this phenomenon provides prospects to understanding the molecular mechanism of Anderson-Fabry disease.