کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4141436 1272328 2015 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Osteopetrosis autosómica dominante: a propósito de 3 casos y una mutación
کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
پیش نمایش صفحه اول مقاله
Osteopetrosis autosómica dominante: a propósito de 3 casos y una mutación
چکیده انگلیسی
Osteopetrosis (OP) is a congenital bone disease which is caused by a functional disorder in osteoclasts with inability for normal bone resorption, leading to increased bone mineral density and bone sclerosis. It can be classified into different groups according to their clinical and their genetic characteristics: autosomal recessive with several subtypes (OPTB) or autosomal dominant type 1 or 2 (OPTA1-2). There is a wide clinical variability of the disease, from asymptomatic to lethal in the first months of life, with variable expressivity in the family members. Diagnosis is mainly clinical with genetic confirmation of the OP, and treatment is symptomatic. Three cases of OP are presented, with the discovery of a new gene mutation in LRP5 which caused OPTA1 in one of them.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Anales de Pediatría - Volume 82, Issue 1, January 2015, Pages e35-e38
نویسندگان
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