Johar Leepakshi, Lee Grace, Martin-Rios Angela, Hall Kathy, Cheng Cheng, Lombardo Dawn, Pahl Madeleine, Kimonis Virginia
Department of Pediatrics, Division of Genetics and Metabolism, University of California, Irvine, CA, USA.
College of Osteopathic Medicine of the Pacific, Western University of Health Sciences, Pomona, CA, USA.
Mol Genet Metab Rep. 2022 Nov 14;33:100934. doi: 10.1016/j.ymgmr.2022.100934. eCollection 2022 Dec.
Fabry disease is a rare lysosomal storage disorder that primarily affects the heart and kidneys, often presenting with reduced renal function. Polycystic kidney disease is a renal condition in which cysts are found, which have a different presentation than the cysts associated with Fabry disease. We report a 60-year-old male patient who was diagnosed with Fabry disease with the classic c.730G > A (p.Asp244Asn) variant of the gene at 34 years of age. Fabry symptoms in this patient include hypohidrosis, hearing loss, corneal whorling, and edema. He also presented with polycystic kidney disease with multiple simple and mildly complex cysts on abdominal ultrasound. Family history of note included Fabry disease in his mother and maternal uncle as well as polycystic kidneys in his mother. Molecular analysis for polycystic kidney disease revealed a variant of uncertain significance (VUS) in the gene. Although the in silico studies of this VUS have inconclusive results, the patient fills clinical criteria of autosomal dominant polycystic kidney disease, therefore, Fabry disease and polycystic kidney disease are considered two co-existing manifestations in this family. This case demonstrates the possibility of two renal comorbidities in the same individual and the risk of one diagnosis being overlooked by the other.
法布里病是一种罕见的溶酶体贮积症，主要影响心脏和肾脏，常表现为肾功能减退。多囊肾病是一种肾脏疾病，可发现囊肿，其表现与法布里病相关的囊肿不同。我们报告一名60岁男性患者，他在34岁时被诊断为法布里病，携带该基因典型的c.730G>A（p.Asp244Asn）变异。该患者的法布里病症状包括少汗、听力丧失、角膜涡状浑浊和水肿。腹部超声检查还发现他患有多囊肾病，有多个单纯性和轻度复杂性囊肿。值得注意的家族史包括他的母亲和舅舅患有法布里病，以及他的母亲有多囊肾。对多囊肾病的分子分析显示该基因存在一个意义未明的变异（VUS）。尽管对这个VUS的计算机模拟研究结果尚无定论，但该患者符合常染色体显性多囊肾病的临床标准，因此，法布里病和多囊肾病被认为是该家族中两种并存的表现。该病例证明了同一个体可能存在两种肾脏合并症，以及一种诊断被另一种诊断忽视的风险。
