Department of Pediatrics, Peking University People's Hospital, Beijing, China.
Medicine (Baltimore). 2021 Mar 26;100(12):e24804. doi: 10.1097/MD.0000000000024804.
The etiology of non-immune hydrops fetalis is complex, and its prognosis is poor. One of its main causes is anemia. There are few reports on hydrops fetalis due to anemia caused by hereditary spherocytosis (HS), especially regarding its occurrence in the neonatal period. Thus, we report on a case of neonatal HS caused by a new SPTB gene mutation that was characterized by hydrops fetalis.
A neonate with intrauterine hydrops fetalis showed severe hyperbilirubinemia and anemia, reticulocytosis, and hepatosplenomegaly. Laboratory examination findings were normal.
Gene sequencing of the patient and his parents showed a de novo frameshift mutation in the patient's SPTB gene. Ultimately, the patient was diagnosed with HS.
Exchange and red blood cell transfusions were performed in the neonatal period.
The child was discharged from the hospital 14 days postnatal because his hemoglobin and bilirubin levels were stable. Red blood cell transfusion was performed once in infancy; however, no further red blood cell transfusions were required within 2 years of age.
Hydrops fetalis can be a manifestation of HS. Genetic detection can help confirm the diagnosis of suspected neonatal HS undocumented by other laboratory examinations.
非免疫性胎儿水肿的病因复杂，预后不良，其主要病因之一是贫血。遗传性球形红细胞增多症（HS）导致的贫血引起胎儿水肿的病例较少，尤其是在新生儿期，因此，我们报告了一例由新 SPTB 基因突变引起的新生儿 HS 病例，其特征为胎儿水肿。
一例宫内胎儿水肿的新生儿出现严重高胆红素血症和贫血、网织红细胞增多症和肝脾肿大。实验室检查结果正常。
对患者及其父母进行基因测序，发现患者 SPTB 基因存在新生错义突变。最终，该患者被诊断为 HS。
新生儿期进行换血和红细胞输注。
患儿出生后 14 天出院，因为其血红蛋白和胆红素水平稳定。婴儿期进行了一次红细胞输注，但在 2 岁内无需再次进行红细胞输注。
胎儿水肿可表现为 HS。遗传检测有助于确诊其他实验室检查未确诊的疑似新生儿 HS。
