کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8543930 | 1561471 | 2017 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
SÃndrome de Gitelman en un paciente pediátrico: a propósito de un caso
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
بیوشیمی بالینی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Gitelman syndrome, an autosomal recessive tubulopathy, is caused by inactivating mutations in SLC12A3 gene. This gene codes for the sodium chloride co-transporter (NCC), a membrane protein that belongs to the family of SLC12 chloride-cationic transporters. NCC constitutes the main route of sodium chloride (NaCl) reabsorption, determines blood pressure, and is the site of action of thiazide-type diuretics. Gitelman syndrome usually involves hypokalaemia, hypomagnesaemia, metabolic alkalosis, and hypocalciuria. The differential diagnosis for Gitelman syndrome includes Bartter syndrome type iii and renal hypomagnesaemia. Symptoms reported in the literature range from asymptomatic, to mild symptoms of cramps and fatigue, to severe manifestations such as tetany and seizures. The prognosis is generally good, but a few patients with hypokalaemia and hypomagnesaemia may have a prolonged QT interval and trigger potentially life-threatening arrhythmias. Thus, genetic testing is important to confirm the diagnosis, as well as in the follow-up of patients.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Revista del Laboratorio ClÃnico - Volume 10, Issue 4, OctoberâDecember 2017, Pages 208-211
Journal: Revista del Laboratorio ClÃnico - Volume 10, Issue 4, OctoberâDecember 2017, Pages 208-211
نویسندگان
MarÃa Jesús Andrés-Otero, Miguel Ansón-Manso, Juan José Puente-Lanzarote,