Homozygous Resistance to Thyroid Hormone b: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure?
نویسندگان
چکیده
University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke’s Hospital, Cambridge CB2 0QQ, United Kingdom; Department of Paediatrics, PrinceMohammed bin Abdulaziz Hospital for National Guard&TaibahUniversity, Al-Madinah 41511, Kingdom of Saudi Arabia; Department of Medicine I, Johannes Gutenberg University Medical Center, Mainz 55101, Germany; Department of Paediatric Cardiology, Johannes Gutenberg UniversityMedical Center, Mainz 55101, Germany; Department of Cardiology, Great Ormond Street Hospital for Children, London WC1N 3JH, United Kingdom; Department of Neuropsychology, Great Ormond Street Hospital for Children, London WC1N 3JH, United Kingdom; Department of Paediatrics, Sohag University, Egypt; Academic Unit of Child Health, University of Sheffield, Sheffield S10 2TH, United Kingdom; Department of Rheumatology, Addenbrooke’s Hospital, Cambridge CB2 0QQ, United Kingdom; Nutrition and Bone Health, MRC Elsie Widdowson Laboratory, Cambridge CB1 9NL, United Kingdom; Department of Clinical Biochemistry, Addenbrooke’s Hospital, Cambridge CB2 0QQ, United Kingdom; Department of Radiology, Addenbrooke’s Hospital, Cambridge CB2 0QQ, United Kingdom; Department of Audiology, Addenbrooke’s Hospital, Cambridge CB2 0QQ, United Kingdom; Department of Experimental Psychology, University of Cambridge, Cambridge CB2 3EB, United Kingdom; Moorfields Eye Hospital, London EC1V 2PD, United Kingdom; Department of Ophthalmology, Great Ormond Street Hospital for Children, LondonWC1N 3JH, United Kingdom; and Department of Endocrinology and Section of Genetics and Epigenetics in Health and Disease, Great Ormond Street Hospital for Children and University College London Institute of Child Health, London WC1N 3JH, United Kingdom
منابع مشابه
Homozygous Resistance to Thyroid Hormone β: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure?
Resistance to thyroid hormone β (RTHβ) due to homozygous THRB defects is exceptionally rare, with only five kindreds reported worldwide. Cardiac dysfunction, which can be life-threatening, is recognized in the disorder. Here we describe the clinical, metabolic, ophthalmic, and cardiac findings in a 9-year-old boy harboring a biallelic THRB mutation (R243Q), along with biochemical, physiologic, ...
متن کامل[Management of acromegaly in pregnancy: case report and literature review].
date of tachycardia-induced cardiomyopathy secondary to hyperthyroidism due to selective pituitary resistance to thyroid hormone. Our patient experienced left chamber dilation combined with severe pulmonary artery hyperten-sion which was caused by persistent sinus tachycardia and frequent ventricular extrasystoles secondary to hyperthy-roidism. Triiodothyroacetic acid is a T3 analogue with a pr...
متن کاملSuccessful treatment of thyroid storm presenting as recurrent cardiac arrest and subsequent multiorgan failure by continuous renal replacement therapy
SUMMARY Thyroid storm is a rare and potentially life-threatening medical emergency. We experienced a case of thyroid storm associated with sepsis caused by pneumonia, which had a catastrophic course including recurrent cardiac arrest and subsequent multiple organ failure (MOF). A 22-year-old female patient with a 10-year history of Graves' disease was transferred to our emergency department (ED...
متن کاملTherapeutic Outcomes of Hyperthyroidism: A Ten-year Investigation in an Endocrine Clinic in North of Iran
Materials and methods: This descriptive study included all hyperthyroid patients. All therapeutic results were recorded and analyzed. Results: In this study, 329 records were studied and 104 patients met the study inclusion criteria. Graves' disease (GD) and toxic adenoma were reported in 94% and 6%, respectively. Among the patients with GD, 30.5% (21.7-40.3%) did not respond to initial ATD tr...
متن کاملThyroid hormone resistance: a novel mutation in thyroid hormone receptor beta (THRB) gene - case report.
Thyroid hormone resistance (THR) is a dominantly inherited syndrome characterized by reduced sensitivity to thyroid hormones. It is usually caused by mutations in the thyroid hormone receptor beta (THRB) gene. In the present report, we describe the clinical and laboratory characteristics and genetic analysis of patients with a novel THRB gene mutation. The index patient had been misdiagnosed as...
متن کامل