Tsc2 mutation induces renal tubular cell nonautonomous disease
نویسندگان
چکیده
منابع مشابه
Renal tubular dysfunction in sickle cell disease.
BACKGROUND/AIMS Kidney abnormalities are one of the main chronic complications of sickle cell disease (SCD). The aim of this study is to investigate the occurrence of renal tubular abnormalities among patients with SCD. METHODS This is a prospective study with 26 SCD adult patients in Brazil. Urinary acidification and concentration tests were performed using calcium chloride (CaCl2), after a ...
متن کاملI-Cell Disease with GNPTAB Gene Mutation
I-cell disease is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical features of this condition mimic that of Hurler disease mutation studies help in the diagnosis. We present a case of I-cell disease in a neonate with GNPTAB gene mutation.
متن کاملRenal Tubular Disease
Type 1 (classic distal) renal tubular acidosis [2] Inability to form an acid urine in the distal tubule [3] . May be inherited as a primary disorder or associated with autoimmune disorders (eg, Sjögren's syndrome, systemic lupus erythematosus (SLE)) [4] , hyperparathyroidism, analgesic nephropathy, renal transplant rejection, obstructive uropathy and chronic urinary tract infections (UTIs). Wit...
متن کاملRenal Tubular Disease
Type 1 (classic distal) renal tubular acidosis [2] Inability to form an acid urine in the distal tubule [3] . May be inherited as a primary disorder or associated with autoimmune disorders (eg, Sjögren's syndrome, systemic lupus erythematosus (SLE)) [4] , hyperparathyroidism, analgesic nephropathy, renal transplant rejection, obstructive uropathy and chronic urinary tract infections (UTIs). Wit...
متن کاملRenal Tubular Disease
Type 1 (classic distal) renal tubular acidosis [2] Inability to form an acid urine in the distal tubule [3] . May be inherited as a primary disorder or associated with autoimmune disorders (eg, Sjögren's syndrome, systemic lupus erythematosus (SLE)) [4] , hyperparathyroidism, analgesic nephropathy, renal transplant rejection, obstructive uropathy and chronic urinary tract infections (UTIs). Wit...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Genes & Diseases
سال: 2021
ISSN: 2352-3042
DOI: 10.1016/j.gendis.2021.03.010