Liting Li1, Maesha Deheragoda2, Yi Lu1, Jingyu Gong3, Jianshe Wang4. 1. Department of Pediatrics, Shanghai Medical College, Fudan University, Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China. 2. Institute of Liver Studies, King's College Hospital, London, United Kingdom. 3. Department of Pediatrics, Jinshan Hospital, Fudan University, Shanghai, China. 4. Department of Pediatrics, Shanghai Medical College, Fudan University, Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China; Department of Pediatrics, Jinshan Hospital, Fudan University, Shanghai, China. Electronic address: jshwang@shmu.edu.cn.
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.
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 ATP8B1deficiency, 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 ATP8B1deficiency 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 ATP8B1deficiency, thyroid function should be monitored in these patients.
Authors: Hanieh Motahari-Rad; Alba Subiri; Rocio Soler; Luis Ocaña; Juan Alcaide; Jorge Rodríguez-Capitan; Veronica Buil; Hamid El Azzouzi; Almudena Ortega-Gomez; Rosa Bernal-Lopez; Maria Insenser; Francisco J Tinahones; Mora Murri Journal: J Clin Med Date: 2022-07-04 Impact factor: 4.964
Authors: Daan B E van Wessel; Richard J Thompson; Emmanuel Gonzales; Irena Jankowska; Benjamin L Shneider; Etienne Sokal; Tassos Grammatikopoulos; Agustina Kadaristiana; Emmanuel Jacquemin; Anne Spraul; Patryk Lipiński; Piotr Czubkowski; Nathalie Rock; Mohammad Shagrani; Dieter Broering; Talal Algoufi; Nejat Mazhar; Emanuele Nicastro; Deirdre Kelly; Gabriella Nebbia; Henrik Arnell; Björn Fischler; Jan B F Hulscher; Daniele Serranti; Cigdem Arikan; Dominique Debray; Florence Lacaille; Cristina Goncalves; Loreto Hierro; Gema Muñoz Bartolo; Yael Mozer-Glassberg; Amer Azaz; Jernej Brecelj; Antal Dezsőfi; Pier Luigi Calvo; Dorothee Krebs-Schmitt; Steffen Hartleif; Wendy L van der Woerd; Jian-She Wang; Li-Ting Li; Özlem Durmaz; Nanda Kerkar; Marianne Hørby Jørgensen; Ryan Fischer; Carolina Jimenez-Rivera; Seema Alam; Mara Cananzi; Noémie Laverdure; Cristina Targa Ferreira; Felipe Ordonez; Heng Wang; Valerie Sency; Kyung Mo Kim; Huey-Ling Chen; Elisa Carvalho; Alexandre Fabre; Jesus Quintero Bernabeu; Estella M Alonso; Ronald J Sokol; Frederick J Suchy; Kathleen M Loomes; Patrick J McKiernan; Philip Rosenthal; Yumirle Turmelle; Girish S Rao; Simon Horslen; Binita M Kamath; Maria Rogalidou; Wikrom W Karnsakul; Bettina Hansen; Henkjan J Verkade Journal: Hepatology Date: 2021-07-13 Impact factor: 17.425