新生儿遗传性球形红细胞增多症：一例报告
Neonatal hereditary spherocytosis: a case report.
作者信息
Coramusi Carolina, Lucangeli Natalia, Vadalà Sarah, Parisi Pasquale, Scapillati Maria Eleonora
机构信息
Faculty of Medicine and Psychology, Sapienza University, Rome, Italy.
Neonatal Intensive Care Unit, San Pietro Fatebenefratelli Hospital, Sapienza University, Rome, Italy.
出版信息
Ital J Pediatr. 2025 Jun 17;51(1):193. doi: 10.1186/s13052-025-02049-w.
BACKGROUND
Hereditary spherocytosis is a genetic disorder affecting red blood cell membranes, leading to increased destruction and haemolysis. In neonates, it ranges from asymptomatic to severe cases with anaemia, jaundice, and spleen issues. Early diagnosis through clinical, laboratory, and genetic tests is vital for prognosis. This clinical case is presented due to the rarity of neonatal-onset spherocytosis, providing an opportunity for a literature review.
CASE PRESENTATION
A full-term baby was born via vaginal delivery with a family history of hereditary spherocytosis. The patient was discharged without complications but was later hospitalized for an unrelated issue, during which haemolytic anemia was detected, leading to the beginning of the diagnostic process and subsequent onset of appropriate therapy with a positive outcome.
CONCLUSIONS
In cases of neonates with jaundice or anemia, it is crucial to consider neonatal spherocytosis among the differential diagnoses, as early diagnosis allows for appropriate therapy and enables the patient to maintain a normal quality of life.
背景
遗传性球形红细胞增多症是一种影响红细胞膜的遗传性疾病，会导致红细胞破坏增加和溶血。在新生儿中，其症状从无症状到出现贫血、黄疸和脾脏问题的严重病例不等。通过临床、实验室和基因检测进行早期诊断对预后至关重要。由于新生儿期起病的球形红细胞增多症较为罕见，故呈现此临床病例，以提供文献综述的机会。
病例介绍
一名足月婴儿经阴道分娩出生，有遗传性球形红细胞增多症家族史。患儿出院时无并发症，但后来因无关问题住院，在此期间检测到溶血性贫血，从而开始了诊断过程并随后开始适当治疗，结果良好。
结论
对于出现黄疸或贫血的新生儿病例，在鉴别诊断中考虑新生儿球形红细胞增多症至关重要，因为早期诊断可进行适当治疗并使患者维持正常生活质量。
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