Department of Pediatrics, Baylor Scott & White Medical Center- Round Rock, Round Rock, TX.
Division of Neonatology, Department of Pediatrics, Baylor Scott & White Medical Center - Temple, Temple, Texas.
Pediatr Rev. 2022 Feb 1;43(2):100-103. doi: 10.1542/pir.2020-003046.
Laboratory results include the following: white blood cell count, 21,600/μL (21.6 × 109/L; reference range, 9,000-30,000/μL [9-30 × 109/L]); hemoglobin, 18.2 g/dL (182 g/L; reference range, 14.0-24.0 g/dL [140-240 g/L]); platelet count, 111 × 103/μL (111 × 109/L; reference range, 150-450 × 103/μL [150-450 × 109/L]); blood type, B+; direct antiglobulin test, negative; and reticulocyte count, 4% (reference range, 3%-7%). Comprehensive metabolic panel is significant for hyponatremia, with a sodium level of 132 mEq/L (132 mmol/L; reference range, 135-145 mEq/L [135-145 mmol/L]). Liver enzyme levels are normal (alanine aminotransferase, 41 U/L [0.68 μkat/L]; aspartate aminotransferase, 86 U/L [1.44 μkat/L]), as are total protein (5.4 g/dL [54 g/L]) and albumin (3.0 g/dL [30 g/L]) levels. Repeated bilirubin level is 12.4 mg/dL (212 µmol/L) at 14 hours after birth, with an elevated direct bilirubin level of 2.9 mg/dL (49.6 µmol/L). Direct or conjugated hyperbilirubinemia is defined as a direct bilirubin level greater than 2 mg/dL (34.2 mmol/L) or more than 20% of total bilirubin. γ-Glutamyl transferase level is normal. Coagulation studies show an elevated prothrombin time of 23.4 seconds (reference range, 11-17 seconds), with an international normalized ratio of 2.1 (reference range, 0.9-1.3); activated partial thromboplastin level is 49.5 seconds (reference range, 30-60 seconds). Fibrinogen level is decreased at 70 mg/dL (0.70 g/L) (reference range, 230-450 mg/dL [230-450 g/L]). Lactate level is 24.3 mg/dL (2.7 mmol/L; reference range, 2.0-26.9 mg/dL [0.22-2.98 mmol/L]). Ammonia level is 96.6 µg/dL (69 μmol/L; reference range, 89.6-149.9 µg/dL [64-107 μmol/L]). Cerebrospinal fluid studies are unremarkable. Magnetic resonance imaging (MRI) of the brain and echocardiography are normal. Ultrasonography of the abdomen shows diffuse hepatic echogenicity. Blood and cerebrospinal fluid cultures are negative. Further testing reveals the diagnosis.
白细胞计数 21600/μL（21.6×109/L；参考范围 9000-30000/μL[9-30×109/L]）；血红蛋白 18.2 g/dL（182 g/L；参考范围 14.0-24.0 g/dL[140-240 g/L]）；血小板计数 111×103/μL（111×109/L；参考范围 150-450×103/μL[150-450×109/L]）；血型 B+；直接抗球蛋白试验阴性；网织红细胞计数 4%（参考范围 3%-7%）。综合代谢小组显著表现为低钠血症，血清钠水平为 132 mEq/L（132 mmol/L；参考范围 135-145 mEq/L[135-145 mmol/L]）。肝酶水平正常（丙氨酸氨基转移酶 41 U/L[0.68 μkat/L]；天门冬氨酸氨基转移酶 86 U/L[1.44 μkat/L]），总蛋白（5.4 g/dL[54 g/L]）和白蛋白（3.0 g/dL[30 g/L]）水平也正常。胆红素水平在出生后 14 小时重复检测为 12.4 mg/dL（212 µmol/L），直接胆红素水平升高至 2.9 mg/dL（49.6 µmol/L）。直接或结合胆红素升高定义为直接胆红素水平大于 2 mg/dL（34.2 mmol/L）或大于总胆红素的 20%。γ-谷氨酰转肽酶水平正常。凝血研究显示凝血酶原时间延长至 23.4 秒（参考范围 11-17 秒），国际标准化比值为 2.1（参考范围 0.9-1.3）；部分凝血活酶时间为 49.5 秒（参考范围 30-60 秒）。纤维蛋白原水平降低至 70 mg/dL（0.70 g/L）（参考范围 230-450 mg/dL[230-450 g/L]）。乳酸水平为 24.3 mg/dL（2.7 mmol/L；参考范围 2.0-26.9 mg/dL[0.22-2.98 mmol/L]）。血氨水平为 96.6 µg/dL（69 μmol/L；参考范围 89.6-149.9 µg/dL[64-107 μmol/L]）。脑脊液研究未见异常。脑磁共振成像（MRI）和超声心动图均正常。腹部超声显示肝脏回声弥漫性增强。血和脑脊液培养均为阴性。进一步检查确定了诊断。
