Urinary Megalin Deficiency Implicates Abnormal Tubular Endocytic Function in Fanconi Syndrome
نویسندگان
چکیده
منابع مشابه
Ectopic germinal center and megalin defect in primary Sjogren syndrome with renal Fanconi syndrome
BACKGROUND This study reports the clinical and pathological features of 12 cases of primary Sjogren syndrome (pSS) with renal involvement presenting with proximal tubular dysfunction in a single center, and investigates the possible correlation of ectopic germinal center formation and megalin/cubilin down-expression. METHOD Clinical and pathological records were reviewed. Immunohistochemistry...
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The study of the proximal tubular function in inherited renal Fanconi syndrome offers a unique opportunity to augment insights in proximal tubular transport and signalling pathways and allows a better interpretation of tests applied for the evaluation of proximal tubular function in acquired disorders. The causes of inherited and acquired renal Fanconi syndrome are listed in Table 1. It is a co...
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BACKGROUND The reabsorption of filtered plasma proteins, hormones and vitamins by the renal proximal tubules is vital for body homeostasis. Studies of megalin-deficient mice suggest that the large multi-ligand endocytic receptor megalin plays an essential role in this process. In humans, dysfunctional megalin causes the extremely rare Donnai-Barrow/Facio-Oculo-Acustico-Renal (DB/FOAR) syndrome ...
متن کاملUrinary L-lactate excretion is increased in renal Fanconi syndrome.
BACKGROUND Measurement of l-lactate in body fluids is an established clinical tool to identify disorders of cellular respiration. However, there is very little known about the clinical value of urinary lactate measurements. We investigated urinary lactate excretion in children with renal Fanconi syndrome. METHODS Freshly voided urine samples were obtained from children with Fanconi syndrome a...
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BACKGROUND The renal Fanconi syndrome (FS) is characterized by renal glucosuria, loss of electrolytes, bicarbonate and lactate, generalized hyperaminoaciduria and low-molecular-weight proteinuria. We studied the urinary low-molecular-weight proteome to identify excreted peptides indicative of a pathogenetic mechanism leading to tubular dysfunction. METHODS We established a urinary proteome pa...
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ژورنال
عنوان ژورنال: Journal of the American Society of Nephrology
سال: 2002
ISSN: 1046-6673,1533-3450
DOI: 10.1681/asn.v131125