Cases reported "Renal Aminoacidurias"

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1/4. Familial fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity. A report on two siblings.

    Two siblings of Turkish-Assyrian extraction, whose parents were first cousins, had poor appetite, slow weight gain and retarded psychomotor development. When given milk the galactose concentration in blood increased. An oral galactose load showed a markedly reduced capacity to metabolize galactose. fanconi syndrome was present as in classical galactosemia. A galactose-free diet reduced the aminoaciduria but did not normalize the renal tubular function nor the children's general condition. galactokinase and galactose-1-phosphate uridyltransferase activities in red blood cells were normal. The physical appearance of the children (sparse subcutaneous fat, thin extremities and distended abdomen) and the results of vitamin a and xylose absorption tests, were in accordance with a malabsorption condition. glucose, however, seemed to be absorbed normally from the gut. There was no evidence of primary liver disease. Since the condition did not normalize with a galactose-free diet, an enzyme defect of galactose metabolism is unlikely. Instead, a more general transport defect with autosomal recessive inheritance is proposed.
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2/4. Renal transport of lysine and arginine in lysinuric protein intolerance.

    In a patient with lysinuric protein intolerance, renal handling of lysine and arginine was examined to study the renal transport mechanism of this disease. The tubular reabsorption of lysine or arginine of the patient, when the filtered load of amino acid was increased by intravenous infusion, was not raised as much as that of control subjects at low filtered loads, but the ability for amino acid reabsorption seemed to exist under these conditions. However, when the filtered load was greatly increased, instead of a net reabsorption, a net secretion of amino acid was obtained. This seems to mean that at low filtered loads the amino acid in the tubular lumen is accumulated by the tubular cell across the intact luminal membrane, leading to a small amino acid excretion in the urine. With a great increase of the filtered load the saturated intracellular amino acid, which is not transported to the capillary because of a transport defect of the basolateral membrane, is assumed to leak back into the lumen. This causes a marked urinary amino acid loss exceeding filtered load at high tubular loads. The intravenous load of lysine depressed the percentage of arginine reabsorption and arginine load depressed lysine reabsorption. The percentage of the depressed amino acid reabsorption of the patient decreased almost linearly with increases of the inhibitor load.
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3/4. light-chain nephropathy. Renal tubular dysfunction associated with light-chain proteinuria.

    We observed idiopathic light-chain proteinuria in a patient with multiple abnormalities of proximal-tubule transport mechanisms (fanconi syndrome), nephrogenic diabetes insipidus, and distal renal tubular acidosis. Seventeen of the 19 urinary amino acid levels measured were elevated. uric acid and phosphate clearances were greater than 60 per cent and 50 per cent, respectively, of the simultaneous inulin clearance. When water deprivation was coupled with vasopressin administration, the maximum urinary concentration observed was 384 mOsm per kilogram of water. During ammonium-chloride loading, the level of hydrogen-ion concentration in the urine remained less than 100 times that in the blood. Kappa light-chain excretion was 149 mg per 24 hours. It appears that the concurrence of proximal tubular dysfunction, distal tubular dysfunction and light-chain proteinuria represents a distinct syndrome, which we call "combined light-chain nephropathy." Available evidence indicates that excessive light-chain production with subsequent filtration, reabsorption and catabolism, causes the complex tubular dysfunctions observed.
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4/4. Dicarboxylic aminoaciduria: an inborn error of amino acid conservation.

    A 38-month-old apparently healthy male has been followed for three years because of a massive glutamic and aspartic aminoaciduria detected shortly after birth in a neonatal screening program. Amino acid clearance studies revealed the presence of renal wastage of dicarboxylic amino acids. Intestinal transport and in vitro oxidation of dicarboxylic amino acids were found to be intact. Clinical and metabolic data obtained on a previously described patient and the present case suggest that some patients with dicarboxylic aminoaciduria might have a selective renal conservation defect without clinical abnormalities, whereas others might demonstrate an additional defect in intestinal transport associated with fasting hypoglycemia.
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