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Results for “AMINOACIDURIA, RENAL”

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At least 19 recordsLinked to original sources
PubMed1988

Lack of D-amino-acid oxidase activity causes a specific renal aminoaciduria in the mouse.

Thin-layer chromatography and amino acid analysis showed that urine of mutant ddY/DAO- mice lacking D-amino-acid oxidase activity contained more serine, proline, alanine and methionine than that of normal ddY/DAO+ mice. Among these four, an increase in alanine was conspicuous. However, the urinary levels of 11 other amino acids and glucose were not different between the ddY/DAO- and ddY/DAO+ mice. Amino acid analysis showed that the plasma levels of serine, proline and methionine were not elevated in the ddY/DAO- mice, though a slight increase in alanine was observed. Genetic crosses showed that aminoaciduria and lack of D-amino-acid oxidase activity were concomitantly transmitted as a set through generations. These results indicated that the lack of enzyme activity caused a specific renal aminoaciduria. Whether this enzyme merely diminishes the D-amino acid load presented for reabsorption, or actually participates catalytically in the reabsorption process, remains undetermined.

Amino Acids↗
PubMed1982

Disorders of proximal nephron function.

The proximal nephron is responsible for reabsorbing 80 to 99 percent of several filtered solutes, including amino acids, glucose and bicarbonate. Separate, high-affinity sodium co-transport mechanisms are used. Increasing luminal concentration of each of these solutes stimulates its active transcellular reabsorption until there is saturation. Slightly less than half of the filtered chloride is reabsorbed, partly by passive mechanisms that are linked to the reabsorption of organic solutes and bicarbonate, as well as by less well defined independent cellular and/or paracellular mechanisms that appear to be sensitive to transepithelial osmotic pressure gradients. Proximal tubule reabsorption is isosmotic and isonatric, and about 50 to 60 percent of the filtered sodium and water in reabsorbed. Disorders or proximal nephron function include conditions in which luminal, cellular and/or peritubular factors affecting reabsorption are altered. Clinical disorders caused by modification of the luminal reabsorptive determinants include conditions in which tubular flow rate is increased or luminal composition is altered, as when non-reabsorbable solutes (mannitol) are filtered or when reabsorbable solutes (glucose) are filtered in concentrations exceeding their tubular transport capacity. Other disorders occur due to loss of affinity or capacity of the cellular active transport systems for specific solutes, such as amino acids (renal aminoacidurias), glucose (renal glycosurias) and bicarbonate (proximal renal tubular acidosis), or for all solutes (Fanconi syndrome). Finally, disorders due to changes in the peritubular factors affecting reabsorption include states of altered peritubular Starling forces or pH, which modify sodium chloride or sodium bicarbonate reabsorption, respectively.

Absorption↗
PubMed1980

Hypercalciuric rickets: a rare cause of nephrolithiasis.

An unusual case of rickets associated with hypercalciuria is described. In addition to proteinuria, the patient had phosphaturia, aminoaciduria, renal glucosuria and impaired renal concentration but no renal tubular acidosis. Studies did not support the diagnosis of primary hyperparathyroidism. The findings in the patient were very similar to those in 4 previously reported cases and are suggestive of a new combination of multiple renal tubular defects.

Acidosis, Renal Tubular↗
PubMed2005

A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria.

BACKGROUND: Familial renal glucosuria (FRG) is an isolated disorder of proximal tubular glucose transport, characterized by abnormal urinary glucose excretion in the presence of normal blood glucose levels. Generalized aminoaciduria has not generally been considered a feature of this disorder. FRG has recently been shown to result from mutations in SLC5A2, encoding the kidney-specific low-affinity/high-capacity Na+/glucose cotransporter, SGLT2. The purpose of this study was to examine the phenotypic and genetic characteristics of three unrelated consanguineous families with FRG accompanied by aminoaciduria. METHODS: Six children with autosomal-recessive FRG and 12 unaffected family members were evaluated at the clinical and molecular levels. DNA sequence analysis of the entire coding sequence of SLC5A2 was performed in all affected individuals. Haplotype analysis using four polymorphic markers flanking SLC5A2 was performed in all study participants. RESULTS: All affected children were asymptomatic, but displayed massive glucosuria (83 to 169 g/1.73 m(2)/day) accompanied by generalized aminoaciduria. Sequence analysis in all patients revealed a novel homozygous missense mutation in exon 8 of SLC5A2, resulting in a lysine to arginine substitution at position 321 of SGLT2 amino acid sequence (K321R). The mutation was confirmed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis and was found to completely cosegregate with the FRG phenotype. Haplotype analysis is consistent with identity by descent for the mutation. The K321 residue, presumed to be located in the eighth transmembrane domain of SGLT2, is highly conserved across SGLT homologues. CONCLUSION: Our findings confirm that mutations in SLC5A2 result in autosomal-recessive FRG. The severe glucosuria in homozygotes for the K321R mutation highlights the importance of the eighth SGLT2 transmembrane domain for normal glucose transport. We suggest that the generalized aminoaciduria accompanying FRG is a consequence of the severe impairment in glucose reabsorption, and is probably not directly related to the SGLT2 mutation. The exact role of the aberrant glucose transport in the pathogenesis of aminoaciduria remains to be established.

Amino Acid Sequence↗
PubMed1993

Ranitidine-associated interstitial nephritis and Fanconi syndrome.

Ranitidine is an H2 blocking agent widely used in the treatment of peptic ulcer disease. Although acute interstitial nephritis has been described in association with a related drug, cimetidine, this complication secondary to ranitidine has been reported only once before. We describe a patient who presented with acute renal failure and features of Fanconi syndrome in association with the use of ranitidine. Renal biopsy showed acute interstitial nephritis. The patient had renal tubular acidosis with alkaline urine, aminoaciduria, renal glycosuria, uricosuria, and phosphaturia. There was a marked disparity between the degree of elevation of urea nitrogen and creatinine concentrations in the serum that was attributable to diminished urea generation, since simultaneous measurement of inulin, creatinine, and urea clearances showed that they were comparably reduced. Urinary nitrogen loss in the form of aminoaciduria contributed significantly to decreased urea generation. Both acute renal failure and Fanconi syndrome resolved after treatment with prednisone.

Adult↗
PubMed1964

RENAL TUBULAR DISORDERS.

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Amino Acid Metabolism, Inborn Errors↗