Hypothyroidism Associated with ATP8B1 Deficiency

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 casset...

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Bibliographic Details
Published in:The Journal of pediatrics 2015-12, Vol.167 (6), p.1334-1339.e1
Main Authors: Li, Liting, PhD, Deheragoda, Maesha, MD, PhD, Lu, Yi, MD, Gong, Jingyu, MD, Wang, Jianshe, MD, PhD
Format: Article
Language:English
Subjects:
Adenosine Triphosphatases - genetics
Adenosine Triphosphatases - metabolism
Child
Child, Preschool
DNA - genetics
DNA Mutational Analysis
Female
Humans
Hypothyroidism - blood
Hypothyroidism - genetics
Male
Mutation
Pediatrics
Polymerase Chain Reaction
Retrospective Studies
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Summary: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.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2015.08.037