INBORN defects of the renal tubule.
نویسنده
چکیده
منابع مشابه
A mouse model for cystinuria type I.
Cystinuria, one of the most common inborn errors of metabolism in humans, accounts for 1-2% of all cases of renal lithiasis. It is caused by defects in the heterodimeric transporter system rBAT/b0,+AT, which lead to reduced reabsorption of cystine and dibasic amino acids through the epithelial cells of the renal tubules and the intestine. In an N-ethyl-N-nitrosourea mutagenesis screen for reces...
متن کاملReview: Genetics of Urolithiasis
Urolithiasis constitutes a worldwide health problem with a frequency of up to 15% in the general population. The causes are diverse; exogenous influences and genetic factors act in complex interaction and thereby impede research on stone formation. In recent years, important advances on the elucidation of molecular and genetic bases have been made. Numerous genes for urolithiasis and syndromes ...
متن کاملFull Review Inherited disorders of renal hypomagnesaemia
The kidney plays a key role in the maintenance of normal magnesium balance. The distal tubule of the kidney, namely the thick ascending limb of the loop of Henle and the distal convoluted tubule, is crucial for the regulation of serum magnesium levels and body magnesium content. The identification of molecular defects related to rare inherited magnesium losing disorders has contributed greatly ...
متن کاملIncreased ammoniagenesis and the renal tubular effects of potassium depletion.
The cause of the morphological changes and functional defects in the renal tubule seen in patients with severe potassium depletion is unknown. In man and animals potassium status is a major factor regulating ammonia synthesis in the kidney and urinary ammonium excretion. A primary effect of potassium depletion is to cause an increase in ammoniagenesis by the renal tubular cells. It is proposed ...
متن کاملThe fanconi syndrome in Basenji dogs: a new model for renal transport defects.
The renal defects resulting in a Fanconi syndrome were seen in eight Basenji dogs by measuring renal clearance and in vitro amino acid and sugar uptake and performing histopathologic evaluations. Renal tubular handling of glucose, phosphate, sodium, potassium, uric acid, and amino acids was abnormal, and in vitro uptake of labeled lysine, glycine, and alpha-methyl-D-glucoside by renal cortical ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- British medical journal
دوره 1 4924 شماره
صفحات -
تاریخ انتشار 1954