The association between familial distal renal tubular acidosis and mutations in the red cell anion exchanger (band 3, AE1) gene
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In distal renal tubular acidosis (dRTA) the tubular secretion of hydrogen ion in the distal nephron is impaired, leading to the development of metabolic acidosis, frequently accompanied by hypokalemia, nephrocalcinosis, and metabolic bone disease. The condition can be familial, when it is usually inherited as an autosomal dominant, though there is a rarer autosomal recessive form associated with nerve deafness. It has been shown that the autosomal dominant form of dRTA is associated with a defect in the anion exchanger (AE1) of the renal collecting duct intercalated cell. This transporter is a product of the same gene (AE1) as the erythrocyte anion exchanger, band 3. In this review we will look at the evidence for this association. Studies of genomic DNA from families with this disorder have shown, both by genetic linkage studies and by DNA sequencing, that affected individuals are heterozygous for mutations in the AE1 gene whilst unaffected family members have a normal band 3 sequence. Mutations have been found in the region of proposed helices 6 and 7 of the membrane domain of band 3 and involve amino acids Arg-589 and Ser-613, and in the COOH-terminal domain of band 3. Studies of red cell band 3 from these families have provided information on the effect these mutations have on the structure and function of erythrocyte band 3. Expression studies of the erythroid and kidney isoforms of the mutant AE1 proteins, in Xenopus laevis oocytes, have shown that they retained chloride transport activity, suggesting that the disease in the dRTA families is not related simply to the anion transport activity of the mutated proteins. A possible explanation for the dominant effect of these mutant AE1 proteins in the kidney cell is that these mutations affect the targeting of AE1 from the basolateral to the apical membrane of the alpha-intercalated cell.Key words: erythrocyte, kidney, acidosis.Keywords:
Band 3
Intercalated Cell
Positional cloning
Renal tubular acidosis
Nephrocalcinosis
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A case of Sjögren's syndrome with renal tubular acidosis complicated with prominant nephrocalcinosis
A 35-year-old woman was admitted, because of xerostomia and a recurrent episode of muscular weakness. Laboratory data showed metabolic acidosis and hypokalemia.Since keratoconjunctivitis and chronic sialoadenitis were also ascertained, a diagnosis of periodic paralysis in Sjögren's syndrome (SjS) secondary to renal tubular acidosis was made. Furthermore, roentgenogram revealed remarkable calcification of bilateral kidneys. Both periodic paralysis and nephrocalcinosis are very rare complications in SjS. However, it might be reasonable to consider that they are the results of the chronic interstitial nephritis as a part of systemic exocrinopathy caused by autoimmune processes in SjS. The metabolic acidosis and hypokalemia gradually improved by the treatment with prednisolone.
Nephrocalcinosis
Renal tubular acidosis
Prednisolone
Interstitial nephritis
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"NEPHROCALCINOSIS IN A PATIENT WITH COMPLETE DISTAL RENAL TUBULAR ACIDOSIS." Acta Clinica Belgica, 65(4), p. 281Keywords: NephrocalcinosisTubular Renal Acidosis Distal
Nephrocalcinosis
Renal tubular acidosis
Belgica
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We report the case of a female patient with incomplete distal renal tubular acidosis with nephrocalcinosis. She was admitted to the hospital because of acute pyelonephritis. Imaging studies showed dual medullary nephrocalcinosis. Subsequent evaluations revealed hypokalemia, hypocalcemia, hypercalciuria, and hypocitraturia with normal acid-base status. A modified tubular acidification test with NH4Cl confirmed a defect of urine acidification, which is compatible with incomplete distal tubular acidosis. We treated our patient with potassium citrate, which corrects hypokalemia and prevents further deposition of calcium salts.
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Abstract. Sjögren's syndrome (SS) is an autoimmune exocrinopathy that develops into systemic autoimmune disease in 25% of patients, leading to general complications, one of which is kidney involvement. It presents mainly as interstitial nephritis, disclosed by hyposthenuria, distal renal tubular acidosis (RTA) and diabetes insipidus. We here describe five cases of SS with type‐1 RTA (hyperchloraemic metabolic acidosis with an anion gap and alkaline urine pH) who developed nephrolithiasis, nephrocalcinosis and renal insufficiency. Hypercalciuria due to acidosis was the main nephrocalcinosis‐prone factor in four patients; four subjects displayed diminished renal concentrating capacity, and two had hypokalaemia.
Nephrocalcinosis
Renal tubular acidosis
Anion gap
Nephrogenic diabetes insipidus
Interstitial nephritis
Tubulopathy
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Nephrocalcinosis
Renal tubular acidosis
Sodium bicarbonate
Bicarbonate
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Nephrocalcinosis
Renal tubular acidosis
Etiology
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Nephrocalcinosis
Sensorineural deafness
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Tubulopathy
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Nephrocalcinosis
Renal tubular acidosis
Hypokalemic periodic paralysis
Muscle weakness
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Nephrocalcinosis
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Nephrocalcinosis
Renal tubular acidosis
Impaired renal function
Ammonium chloride
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