Hypothyroidism associated with ATP8B1 deficiency

• 作 者: Liting Li Maesha Deheragoda Yi Lu Jingyu Gong Jianshe Wang
• 机 构: Department of Pediatrics,Shanghai Medical College,Fudan University;Center for Pediatric Liver Diseas
• 出 处: 中华医学会感染病学分会产科、儿科肝脏疾病和感染性疾病联合学术会议暨第十三届全国儿科肝脏疾病和感染性疾病学术会议、全国产科
• 发表日期: 2015年9期
• 关键词: ATP8B1 extrahepatic features hypothyroidism cholestasis children

　　Objective: To examine whether hypothyroidism is an extrahepatic feature of ATP8B1 deficiency.Study design: 47 children with normal γ-glutamyltransferase cholestasis, including 13 patients with ATP8B1 deficiency, 19 with ABCB11 deficiency, and 15 without either ATP8B1 or ABCB11 mutations,were enrolled.Clinical information and thyroid function test results were retrospectively retrieved from clinical records and compared.Hypothyroidism was diagnosed by clinical-biochemistry criteria (thyroid function test results).Results: Three out of 13 patients with ATP8B1 deficiency were diagnosed as hypothyroid and two as subclinically hypothyroid.The frequency of hypothyroidism and subclinical hypothyroidism was significantly higher than in patients with ABCB11 deficiency (5/13 vs 0/19, P=0.006) and in patients without ATP8B1 or ABCB11 mutations (5/13 vs.0/15, P=0.013).Thyroid function test results normalized after hormone replacement in all five patients, with no relief of cholestasis.Conclusions: As hypothyroidism can be another extrahepatic feature of ATP8B1 deficiency, thyroid function should be monitored in these patients.