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一例遗传性球形红细胞增多症合并巨脾和胆结石的病例报告。

A case report of hereditary spherocytosis complicated by massive splenomegaly and cholelithiasis.

作者信息

Sun Qi, Yu Yang, Song Lei, Liang Lu

机构信息

Affiliated Baotou Clinical College of Inner Mongolia Medical University, No. 61 Hucheng Road, Donghe District, Baotou City, Inner Mongolia Autonomous Region 014040, China.

Hepatobiliary and Splenic Surgery, Baotou Central Hospital, The Nei Monggol Autonomous Region, No. 61 Hucheng Road, Donghe District, Baotou City, Inner Mongolia Autonomous Region 014040, China.

出版信息

J Surg Case Rep. 2025 Aug 12;2025(8):rjaf602. doi: 10.1093/jscr/rjaf602. eCollection 2025 Aug.

Abstract

Here, we report the case of a 53-year-old male patient with hereditary spherocytosis (HS) and a 10-year course of disease, presenting with fatigue, jaundice, abdominal discomfort, massive splenomegaly (spleen size: 35 × 20 × 10 cm, weight: 10 kg), and cholelithiasis. The patient had a positive family history, with his father and daughter exhibiting similar symptoms. Combined splenectomy and cholecystectomy significantly alleviated hemolytic jaundice, anemia, and gallstone-related symptoms. HS is an autosomal dominant disorder affecting erythrocyte membranes. Splenectomy effectively improves hemolytic anemia, while concurrent cholecystectomy is necessary to comprehensively manage cholelithiasis. This case highlights the clinical value of combined surgery for HS-related complications, emphasizing that personalized comprehensive treatment optimizes prognosis.

摘要

在此,我们报告一例患有遗传性球形红细胞增多症(HS)且病程长达10年的53岁男性患者,其表现为疲劳、黄疸、腹部不适、巨脾(脾脏大小:35×20×10cm,重量:10kg)和胆结石。该患者有阳性家族史,其父亲和女儿表现出类似症状。脾切除术和胆囊切除术联合显著减轻了溶血性黄疸、贫血以及与胆结石相关的症状。HS是一种影响红细胞膜的常染色体显性疾病。脾切除术可有效改善溶血性贫血,而同时进行胆囊切除术对于全面处理胆结石是必要的。该病例突出了联合手术治疗HS相关并发症的临床价值,强调个性化综合治疗可优化预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/55e5/12343081/9aae35d38cd5/rjaf602f1.jpg

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