新生儿遗传性球形红细胞增多症1例。

IF 3.2 3区 医学 Q1 PEDIATRICS
Carolina Coramusi, Natalia Lucangeli, Sarah Vadalà, Pasquale Parisi, Maria Eleonora Scapillati
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引用次数: 0

摘要

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,导致破坏和溶血增加。在新生儿中,从无症状到伴有贫血、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。这个临床病例是由于罕见的新生儿起病球形红细胞增多症,提供了一个文献回顾的机会。病例介绍:一个足月婴儿通过阴道分娩出生与遗传性球形红细胞增多症的家族史。患者出院后无并发症,但后来因无关问题住院,在此期间检测到溶血性贫血,导致开始诊断过程并随后开始适当治疗,结果为阳性。结论:对于患有黄疸或贫血的新生儿,在鉴别诊断中考虑新生儿球形细胞增多症是至关重要的,因为早期诊断可以进行适当的治疗,使患者保持正常的生活质量。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Neonatal hereditary spherocytosis: a case report.

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.

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来源期刊
CiteScore
6.10
自引率
13.90%
发文量
192
审稿时长
6-12 weeks
期刊介绍: Italian Journal of Pediatrics is an open access peer-reviewed journal that includes all aspects of pediatric medicine. The journal also covers health service and public health research that addresses primary care issues. The journal provides a high-quality forum for pediatricians and other healthcare professionals to report and discuss up-to-the-minute research and expert reviews in the field of pediatric medicine. The journal will continue to develop the range of articles published to enable this invaluable resource to stay at the forefront of the field. Italian Journal of Pediatrics, which commenced in 1975 as Rivista Italiana di Pediatria, provides a high-quality forum for pediatricians and other healthcare professionals to report and discuss up-to-the-minute research and expert reviews in the field of pediatric medicine. The journal will continue to develop the range of articles published to enable this invaluable resource to stay at the forefront of the field.
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