Soylu Ustkoyuncu Pembe, Mutlu Fatma Türkan, Kiraz Aslihan, Tag Balkis Zuhal, Yel Sibel
Pediatric Nutrition and Metabolism Clinic.
Pediatric Hematology and Oncology Clinic.
J Pediatr Hematol Oncol. 2018 Jan;40(1):e45-e49. doi: 10.1097/MPH.0000000000000811.
Isolated hemolysis or hemolytic anemia and 5-oxoprolinuria are 2 distinct medical conditions in the clinical spectrum associated with glutathione synthetase deficiency.
A 1-day-old female baby presented with anemia and respiratory distress. Her hemoglobin level was 9.5 g/dL and the total serum bilirubin level was 5.6 mg/dL. Metabolic acidosis was detected in her blood gas analysis. Metabolic acidosis recurred despite treatment and further investigation was required. Her 5-oxoproline level was 3815 mmol/mol creatinine in urine organic acid analysis, and a homozygous mutation [p.R125H (c.374G>A)] was found in the glutathione synthetase gene.
GSD has been observed in very few patients and is rarely considered in the differential diagnosis of hemolytic anemia in newborns.
孤立性溶血或溶血性贫血以及5-氧脯氨酸尿症是临床谱系中与谷胱甘肽合成酶缺乏相关的两种不同病症。
一名1日龄女婴出现贫血和呼吸窘迫。她的血红蛋白水平为9.5 g/dL，总血清胆红素水平为5.6 mg/dL。血气分析检测到代谢性酸中毒。尽管进行了治疗，代谢性酸中毒仍反复出现，需要进一步调查。尿液有机酸分析中她的5-氧脯氨酸水平为3815 mmol/mol肌酐，并且在谷胱甘肽合成酶基因中发现了纯合突变[p.R125H (c.374G>A)]。
谷胱甘肽合成酶缺乏症在极少数患者中被观察到，在新生儿溶血性贫血的鉴别诊断中很少被考虑。
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