Article
Autopsy Findings of Heterozygous Fabry Disease with the Severe Phenotype: A Case Report.
Nephron - 1 Jan 2022
Hiratsuka Maki, Koyama Katsushi, Ito Makoto, Sato Ryo, Suzuki Kodai, Ito Yuki, Namba-Hamano Tomoko, Hamano Takayuki
Abstract excerpt
Fabry disease (FD) is an inherited X-linked lysosomal storage disorder, with hemizygous males being more severely affected than heterozygous females. Herein, we report a rare case of FD in a heterozygous female with a severe phenotype. The patient had obesity and hyperlipidemia and had her first cerebral infarction at the age of 33 years. She underwent renal biopsy and was diagnosed with FD with morphological...
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