与ATP8B1缺乏相关的甲状腺功能减退症。

Hypothyroidism Associated with ATP8B1 Deficiency.

作者信息

Li Liting, Deheragoda Maesha, Lu Yi, Gong Jingyu, Wang Jianshe

机构信息

Department of Pediatrics, Shanghai Medical College, Fudan University, Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.

Institute of Liver Studies, King's College Hospital, London, United Kingdom.

出版信息

J Pediatr. 2015 Dec;167(6):1334-9.e1. doi: 10.1016/j.jpeds.2015.08.037. Epub 2015 Sep 15.

DOI:10.1016/j.jpeds.2015.08.037

PMID:26382629

Abstract

OBJECTIVE

To examine whether hypothyroidism is an extrahepatic feature of ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1) deficiency.

STUDY DESIGN

Children with normal γ-glutamyltransferase cholestasis (n = 47; 13 patients with ATP8B1 deficiency, 19 with ATP-binding cassette, subfamily B (MDR/TAP), member 11 (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 2 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 = .006) and in patients without ATP8B1 or ABCB11 mutations (5/13 vs 0/15, P = .013). Thyroid function test results normalized after hormone replacement in all 5 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.

摘要

目的

研究甲状腺功能减退是否为ATP酶、氨基磷脂转运体1类8B型成员1（ATP8B1）缺乏的肝外表现。

研究设计

纳入γ-谷氨酰转移酶正常的胆汁淤积患儿（n = 47；13例ATP8B1缺乏患者，19例ATP结合盒转运体B亚家族（MDR/TAP）成员11（ABCB11）缺乏患者，15例既无ATP8B1突变也无ABCB11突变的患者）。回顾性收集临床记录中的临床信息和甲状腺功能检查结果并进行比较。根据临床生化标准（甲状腺功能检查结果）诊断甲状腺功能减退。

结果

13例ATP8B1缺乏患者中有3例被诊断为甲状腺功能减退，2例为亚临床甲状腺功能减退。甲状腺功能减退和亚临床甲状腺功能减退的发生率显著高于ABCB11缺乏患者（5/13 vs 0/19，P = .006）和既无ATP8B1突变也无ABCB11突变的患者（5/13 vs 0/15，P = .013）。所有5例患者激素替代治疗后甲状腺功能检查结果恢复正常，但胆汁淤积无缓解。