فراوانی اختلالات آناتومیک کلیوی، تیروئیدی، کبدی و قلبی در بیماران مبتلا به سندرم ترنر

نوع مقاله : مقاله های پژوهشی

نویسندگان

1 استادیار، گروه رادیولوژی و تصویربرداری، دانشکده‌ی پزشکی، دانشگاه علوم پزشکی اصفهان، اصفهان، ایران

2 استاد، مرکز تحقیقات بیماری‌های متابولیک کبدی، دانشگاه علوم پزشکی اصفهان، اصفهان، ایران

3 دستیار، گروه رادیولوژی و تصویربرداری، دانشکده‌ی پزشکی، دانشگاه علوم پزشکی اصفهان، اصفهان، ایران

چکیده

مقدمه: سندرم ترنر (Turner syndrome)، شایع‌ترین نوع اختلالات کروموزومی وابسته به جنس در سراسر دنیا می‌باشد. این سندرم خود را با انواع مختلفی از ژنوتیپ بروز می‌دهد و ممکن است با اختلالات آناتومیک مختلفی همراه باشد. هدف از انجام پژوهش حاضر، ارزیابی جامع اولتراسونوگرافیک و اکوکاردیوگرافیک در بیماران مبتلا به سندرم ترنر بود.روش‌ها: این مطالعه بر روی 75 بیمار مبتلا به سندرم ترنر که تحت آزمایش کاریوتایپ قرار گرفته بودند، انجام شد. بیماران از نظر آنومالی‌های کلیوی، کبدی و تیروئیدی، تحت ارزیابی اولتراسونوگرافیک قرار گرفتند. همچنین، اکوکاردیوگرافی به ‌منظور بررسی آنومالی‌های قلبی انجام شد.یافته‌ها: بیماران مورد بررسی دارای میانگین سنی 01/5 ± 29/15 سال بودند که از میان آن‌ها، 55 نفر (3/73 درصد) 45X، 14 نفر (6/18 درصد) 45,X/46,XX و 6 نفر (8 درصد) ساختار غیر طبیعی در کروموزوم X داشتند. در مجموع، 20 بیمار (6/26 درصد) مبتلا به پاتولوژی آناتومیک در سیستم کلیوی- ادراری شامل کلیه‌ی نعل اسبی در 9 نفر (0/12 درصد)، سیستم جمع‌کننده‌ی ادراری دوگانه در 8 نفر (7/10 درصد) و مالروتاسیون کلیوی در 7 نفر (3/9 درصد) بودند. اکوی غیر نرمال تیروئیدی در 19 نفر (3/25 درصد)، ندول تیروئیدی در 21 نفر (0/28 درصد) و سودوندول تیروئیدی در 15 نفر (0/20 درصد) مشاهده گردید. 14 بیمار (6/18 درصد) کبد چرب داشتند. مطالعات اکوکاردیوگرافیک حاکی از آنومالی‌های ساختاری در 42 بیمار (0/6 درصد) بود که شایع‌ترین موارد شامل دریچه‌ی آئورت دو شانه در 17 نفر (6/22 درصد) و کوآرکتاسیون آئورت در 10 نفر (3/13 درصد) بود.نتیجه‌گیری: جمعیت قابل توجهی از بیماران مبتلا به سندرم ترنر از اختلالات آناتومیک کلیوی، تیروئیدی، کبدی و قلبی رنج می‌برند.

کلیدواژه‌ها

عنوان مقاله [English]

The Frequency of Anatomical Renal, Thyroid, Hepatic, and Cardiac Abnormalities in Patients with Turner Syndrome

نویسندگان [English]

  • Maryam Riahinezhad 1
  • Mahin Hashemipour 2
  • Fahimeh Jaafari 3
1 Assistant Professor, Department of Imaging and Radiology, School of Medicine, Isfahan University of Medical Sciences; Isfahan; Iran
2 Professor, Metabolic Liver Disease Research Center, Isfahan University of Medical Sciences; Isfahan, Iran
3 Resident, Department of Imaging and Radiology, School of Medicine, Isfahan University of Medical Sciences; Isfahan; Iran
چکیده [English]

Background: Turner syndrome is the most common chromosomal X-linked disorder worldwide. This syndrome can be presented with diverse genotypes, and may be accompanied by various anatomical abnormalities. This study aimed to make a view to patients with Turner syndrome thorough ultrasound and echocardiographic evaluations.Methods: The current study was conducted on 75 patients with Turner syndrome undergone karyotyping. Ultrasound study was performed to assess renal, hepatic, and thyroid anomalies. Echocardiography was done to evaluate cardiac anomalies.Findings: The patients with Turner syndrome had the mean age of 15.29 ± 5.01 years, among which, 55 (73.3%) were 45X, 14 (18.6%) 45X/46XX, and 6 (8.0%) had structural X chromosome abnormality. Generally, 20 patients (26.6%) had anatomical urogenitory pathology, including horse-shoe kidney in 9 (12.0%), duplicated urinary collected syndrome in 8 (10.7%), and renal malrotation in 7 (9.3%) patients. Abnormal thyroid echo was found in 19 (25.3%), thyroid nodule in 21 (28.0%), and thyroid pseudonodule in 15 (20%) patients. 14 patients (18.6%) had hepatosteatitis. Echocardiographic studies revealed structural anomalies in 42 patients (56%) among which aortic bicuspid valve in 17 (22.6%) and coarectation of aorta in 10 patients (13.3%) were the most common ones, respectively.Conclusion: A remarkable population of patients with Turner syndrome suffer from anatomical renal, thyroid, hepatic, and cardiac abnormalities.

کلیدواژه‌ها [English]

  • Turner syndrome
  • Genotype
  • Congenital Heart Defects
  • Kidney
  • Thyroid
  • Congenital Abnormalities

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  • تاریخ دریافت: 11 بهمن 1399
  • تاریخ بازنگری: 12 آبان 1403
  • تاریخ پذیرش: 17 فروردین 1401

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