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1Sezione di Nefrologia pediatrica, Azienda Ospedaliera Universitaria Meyer, Firenze
2UO di Genetica, Azienda Ospedaliera Universitaria Meyer, Firenze
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Key words: Distal renal tubular acidosis, Urine, Biochemical alterations, Genetic defect
Primary distal renal tubular acidosis (dRTA) is a genetic disease in which the α-intercalated cells of the collecting duct are unable to secrete H+ and to acidify urine, resulting in hypercloremic metabolic acidosis. Other biochemical alterations are hypokalemia, hypercalciuria and hypocitraturia. Clinical features include growth retardation, hypotonia, vomiting, polyuria and dehydration. Classification of dRTA is based on genetic defect and three different forms, one autosomal dominant and two autosomal recessive, can be recognized. Our Department of Sciences for Woman and Child’s Health at Meyer Children’s Hospital in Florence (Italy) started a programme of clinical and molecular study of dRTA, with genetic screening of mutations responsible for the disease. Some particular cases in which clinical presentation and biochemical parameters at the onset were unusual and made differential diagnosis difficult, while molecular study was very useful to define dRTA, are reported.
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