背景:大疱性表皮松解症是一种罕见的遗传性结缔组织疾病,损害细胞连接。泡膜形成是大疱性表皮松解症的第一表现。由于细胞粘附受到影响,它可以影响许多器官。由于受损的皮肤完整性,这些患者普遍存在水分流失和电解质失衡。然而,高钠血症是通常观察到的钠不平衡,而不是低钠血症。
方法:患者是一名近足月出生的48天大的伊朗男婴。他在1个月大时被诊断为大疱性表皮松解症。病人因呼吸暂停及呼吸窘迫被送往儿科中心,并被插管并送入儿科重症监护室。他在入院前4天开始出现呕吐和喂养不良的症状,病人后来出现了意识丧失。生命体征显示脉搏率为每分钟154次,呼吸频率为每分钟70,时间温度为36.5°C,无法检测到血压,氧饱和度为96%。患者出现无尿症,并进行了复水。体格检查显示,全身有弹丸喷发,但粘膜没有。重要的实验室发现是白细胞计数为41,000/mm3,中性粒细胞占68%,血红蛋白10.8g/dL,血小板计数856,000/mm2,C反应蛋白(CRP)阴性,514mg/dL的血糖,尿素129mg/dL,98mg/dL的钠,校正钠105毫克/分升,钾含量为5.5mg/dL,血清肌酐为1.7mg/dL,血清降钙素原超过75ng/mL。尿液分析显示许多红细胞。脑计算机断层扫描显示灰质和白质之间的差异丧失,皮质沟消失,提示严重的细胞毒性水肿。我们服用了3%的高渗盐水,并校正了血浆钠水平,并为患者提供了多种剂量的甘露醇以及由于白细胞增多引起的抗生素。随后,在儿科重症监护病房3天后,脑水肿的症状消失了,4天后,他从呼吸机上断奶并拔管。后来他从儿科重症监护室出院。
结论:本研究向临床医生说明了大疱性表皮松解症患者严重低钠血症的可能性。虽然不常见,了解这种可能性是至关重要的,因为可能对患者有害的结果。
BACKGROUND: Epidermolysis bullosa is a rare inherited connective tissue disorder compromising cellular junctions. Blister formation is the first manifestation of epidermolysis bullosa. As cellular adhesion is affected, it can affect many organs. Due to compromised skin integrity, water loss and electrolyte imbalances are prevalent in these patients. However, hypernatremia is the usual observed sodium imbalance rather than hyponatremia.
METHODS: The patient was a 48-day-old Iranian male infant born near term. He was diagnosed with epidermolysis bullosa at 1 month of age. The patient was brought to the pediatrics center with apnea and respiratory distress, and was intubated and admitted to the pediatric intensive care unit. His symptoms started 4 days before the admission with vomiting and poor feeding, and the patient later developed loss of consciousness. Vital signs revealed a pulse rate of 154 beats per minute, respiratory rate of 70 per minute, a temporal temperature of 36.5 °C, nondetectable blood pressure, and oxygen saturation of 96%. The patient was anuric at presentation and was rehydrated. Physical examination showed bolus eruptions all over the body but not in mucosal membranes. Important laboratory findings were white blood cell count of 41,000/mm3 with 68% neutrophils, hemoglobin of 10.8 g/dL, platelet count of 856,000/mm2, negative C-reactive protein (CRP), blood sugar of 514 mg/dL, urea of 129 mg/dL, sodium of 98 mg/dL, corrected sodium of 105 mg/dL, potassium of 5.5 mg/dL, serum creatinine of 1.7 mg/dL, and serum procalcitonin of more than 75 ng/mL. Urine analysis revealed many red blood cells. Brain computed tomography demonstrated loss of differentiation between gray and white matter and effacement of cortical sulci suggesting severe cytotoxic edema. We administered 3% hypertonic saline and corrected the plasma sodium levels, and provided the patient with multiple doses of mannitol as well as antibiotics due to the leukocytosis. Subsequently, after 3 days in pediatric intensive care unit, the symptoms of brain edema resolved, and after 4 days, he was weaned from the ventilator and extubated. Later he was discharged from the pediatric intensive care unit.
CONCLUSIONS: This study illustrates the possibility of severe hyponatremia in patients with epidermolysis bullosa to clinicians. Although uncommon, knowledge on such possibilities is vital due to the possible detrimental outcomes for patients.