Thalassemia & Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
J Med Case Rep. 2024 Nov 21;18(1):563. doi: 10.1186/s13256-024-04902-8.
Gaucher is an autosomal recessive inherited lysosomal storage disorder. The incidence of this disease is rare with a global estimate of around 1 in 57,000 to 1 in 75,000. Gaucher's disease is caused by a mutation in the glucocerebrosidase gene. Common symptoms of this disease include hepatosplenomegaly, moderate neurological symptoms, and late‑onset skeletal alterations. However, Gaucher can sometimes have rare presentations that lead to a delayed diagnosis in patients. This report discusses two adult cases of Gaucher's disease (type 1) with the same mutation but with unusual symptoms.
One patient was a 44-year-old man who had been experiencing chronic cough since he was 10 years old, and the other patient was a 27-year-old woman with itching, both atypical symptoms of Gaucher. Bronchodilators and prednisolone were administered for chronic cough and antihistamines and prednisolone were given for the itching, but little to no improvement was seen. Sonography tests revealed that both cases had splenomegaly, hepatomegaly, and liver malfunction, characteristic of Gaucher's disease. Bone marrow aspiration tests confirmed the presence of Gaucher's cells in their bones. The level of glucocerebrosidase enzyme in both cases was less than 1.5 nmol/mL/hour. Whole exon sequencing confirmed a mutation on exon 8 of the GBA1 gene in a homozygous form in both cases, resulting in a transversion mutation (C > G) at position c.798, leading to the substitution of phenylalanine 266 with leucine. Both patients were of Bakhtiyari ethnicity and had parents who were in a consanguineous marriage. After receiving Cerezyme treatment, both cases experienced a disappearance of their cough and itching symptoms.
This report highlights the importance of recognizing the unusual presentation of Gaucher's disease especially in regions with high rates of consanguineous marriage and thalassemia. This knowledge can aid physicians in making accurate diagnoses and providing appropriate treatment.
戈谢病是一种常染色体隐性遗传性溶酶体贮积症。该病的全球发病率约为每 57000 至每 75000 人中 1 例，较为罕见。戈谢病是由葡萄糖脑苷脂酶基因突变引起的。该病的常见症状包括肝脾肿大、中度神经系统症状和迟发性骨骼改变。然而，戈谢病有时也会表现出罕见的症状，导致患者的诊断延迟。本报告讨论了两例具有相同突变但症状不同的戈谢病（1 型）成年病例。
一名患者为 44 岁男性，从 10 岁开始出现慢性咳嗽，另一名患者为 27 岁女性，出现瘙痒，均为戈谢病的非典型症状。给予慢性咳嗽患者支气管扩张剂和泼尼松龙，给予瘙痒患者抗组胺药和泼尼松龙，但疗效甚微。超声检查显示两例患者均有脾肿大、肝肿大和肝功能异常，符合戈谢病的特征。骨髓抽吸检查证实两例患者的骨骼中均存在戈谢细胞。两例患者的葡萄糖脑苷脂酶酶水平均低于 1.5 nmol/mL/h。全外显子组测序证实两例患者均为 GBA1 基因第 8 外显子纯合突变，导致 c.798 位发生 C>G 颠换突变，导致苯丙氨酸 266 突变为亮氨酸。两例患者均为巴赫蒂亚里族裔，父母为近亲结婚。接受 Cerezyme 治疗后，两例患者的咳嗽和瘙痒症状均消失。
本报告强调了认识戈谢病不典型表现的重要性，尤其是在近亲结婚和地中海贫血高发地区。这一知识有助于医生做出准确诊断并提供适当的治疗。
