Renal Tubular Dysfunction Fully Accounts for Plasma Biochemical Abnormalities in Type 1A Pseudohypoparathyroidism
نویسندگان
چکیده
منابع مشابه
GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders
Pseudohypoparathyroidism type 1a (PHP1a) is characterized by hypocalcaemia and hyperphosphatemia due to parathyroid hormone resistance, in association with the features of Albright's hereditary osteodystrophy (AHO). PHP1a is caused by maternally inherited inactivating mutations of Gs-alpha, which is encoded by a complex imprinted locus termed GNAS. Paternally inherited mutations can lead either...
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Background & objective: β-Thalassemia minor is an asymptomatic hereditary disease. The first study on the relation of renal tubular dysfunction and β-thalassemia minor was performed in 2002 but those studies seem inadequate.The main goal of this study is through evaluation of renal tubular function in 100 patients with thalassemia minor. Materials & Methods: 100 patients with β- thalassemia...
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*Corresponding author: Dr. Dejan Spasovski, Department of Rheumatology, University Clinical Centre, Skopje, Republic of Macedonia. Email: [email protected] There are approximately 40 different enzymes in the urine with different origin. They originate from the kidneys, urinary tract epithelium and urinary tract glands, plasma and blood cells (1). Subcellular locations of these enzymes are...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2018
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2018-01193