کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4168212 1607507 2010 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Misdiagnosis in Fabry Disease
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
پیش نمایش صفحه اول مقاله
Misdiagnosis in Fabry Disease
چکیده انگلیسی

ObjectiveTo evaluate the most frequent diagnostic errors in patients with Fabry disease and the types of specialists most often consulted before diagnosis.Study designWe evaluated 45 consecutive symptomatic patients with Fabry disease confirmed by enzymatic tests in males and genetic studies in females. We interviewed the patients, their mothers, or both regarding symptoms, age at onset, medical consultations, and recommended treatments.ResultsNeuropathic pain was the most frequent initial complaint, and rheumatic fever was the most common diagnosis. Seven patients were treated with penicillin for many years. Ten patients sought medical consultation because of abdominal pain and were diagnosed with food intoxication or nonspecific pain. Six patients sought consultation because of anhidrosis, considered of unclear cause, and angiokeratomas diagnosed as petechiae. Internists and pediatricians were the most frequently consulted specialists. The correct diagnosis was obtained after a mean of 19.7 years.ConclusionsPediatricians as well as internists commonly misdiagnose Fabry disease. Neuropathic pain, hypohidrosis, and recurrent abdominal pain in childhood or adolescence should include Fabry disease in the differential diagnosis to facilitate earlier diagnosis and treatment of these patients.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: The Journal of Pediatrics - Volume 156, Issue 5, May 2010, Pages 828–831
نویسندگان
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