背景:这项研究报告了中国儿童的首例先天性甲状腺功能减退症(CH)和α地中海贫血,以贫血和肌肉损伤为主要表现。分析和研究该病例对减少CH的漏诊和误诊具有重要意义,并将为此类患者的治疗提供临床策略。
方法:儿童,女性,2岁7个月大,孩子看起来很沮丧,食欲不振,肤色浅,贫血活动减少,肌肉酶升高,高度,和生长迟缓。
方法:患儿被诊断为α-地中海贫血。
方法:患者接受左甲状腺素钠和贫血纠正治疗。
结果:儿童当前的精神,食欲,红脸,肢体活动正常,身体发育,智力明显优于同龄正常儿童。
结论:CH伴α地中海贫血,尤其是以贫血和肌肉损伤为主要表现,尚未报告。给予左甲状腺素钠可有效纠正CH和α地中海贫血患者的贫血。
结论:由于CH和α地中海贫血,没有特定的症状,它们容易漏诊和误诊。因此,贫血和肌肉酶水平升高的患者应常规检测甲状腺功能,以早期诊断,并提供适当的治疗,以避免负面后果。
BACKGROUND: This study reports the first case of congenital hypothyroidism (CH) and alpha thalassemia in a child in
China, with anemia and muscle damage as the main manifestations. Analyzing and studying this case is of great significance in reducing missed and misdiagnosed CH and will provide a clinical strategy for treating these patients.
METHODS: Child, female, 2 years and 7 months old, the child appeared dispirited, had poor appetite, shallow complexion, reduced activities with anemia, elevated muscle enzymes, height, and growth retardation.
METHODS: The child was diagnosed with CH with alpha thalassemia.
METHODS: The patient was treated with levothyroxine sodium and anemia correction.
RESULTS: The children\'s current spirit, appetite, red face, normal limb activity, physical development, and intelligence were significantly better than those of normal children of the same age.
CONCLUSIONS: CH with alpha thalassemia, especially anemia and muscle damage as the main manifestations, has not been reported. Administration of levothyroxine sodium is effective in correcting anemia in patients with CH and alpha thalassemia.
CONCLUSIONS: Due to CH and alpha thalassemia, there are no specific symptoms and they are prone to missed diagnosis and misdiagnosis. Therefore, patients with anemia and elevated muscle enzyme levels should be routinely tested for thyroid function to diagnose them early and provide proper treatment to avoid negative consequences.