University College London Medical School, University College London, London, UK.
Lysomal Disorders Unit, Royal Free London NHS Foundation Trust, London, UK.
BMJ Case Rep. 2022 May 10;15(5):e246682. doi: 10.1136/bcr-2021-246682.
Fabry disease is an X-linked lysosomal storage disorder caused by reduced activity or absence of the alpha-galactosidase A enzyme resulting in systemic accumulation of glycosphingolipids. End-stage renal disease (ESRD) is a late-stage manifestation of Fabry disease, typically presenting in the fifth decade of life, but is very rare in childhood. Here we present a case of an 11-year-old boy with classical Fabry disease presenting with ESRD requiring haemodialysis and transplant. Diagnosis was confirmed by renal biopsy, mutation and low alpha-galactosidase A levels. He has an unusual genotype, hemizygous for the c.1000-11T>A intronic variant and positive for the pseudodeficiency allele D313Y. Due to the possibility of very early and accelerated disease progression, Fabry disease should be considered as a possible diagnosis in unexplained renal failure in males from a younger age.
法布瑞氏病是一种 X 连锁溶酶体贮积症，由α-半乳糖苷酶 A 活性降低或缺失引起，导致糖鞘脂在全身积累。终末期肾病（ESRD）是法布瑞氏病的晚期表现，通常在生命的第五个十年出现，但在儿童中非常罕见。本文报道了一例 11 岁男孩，患有典型的法布瑞氏病，表现为需要血液透析和移植的 ESRD。诊断通过肾活检、基因突变和α-半乳糖苷酶 A 水平降低得到确认。他的基因型异常，为 c.1000-11T>A 内含子变异的半合子，且存在 D313Y 假缺陷等位基因。由于疾病进展可能非常早且加速，对于年轻男性不明原因的肾衰竭，应考虑法布瑞氏病作为可能的诊断。
