Distal renal tubular acidosis is a rare genetic disease, characterised by deficit in renal tubular transport. Clinical features are metabolic acidosis with hypercloraemia and hypokalemia, and inability in urine acidification. Hypercalciuria may also be present, often treated with the use of a diuretic therapy with thiazides.

Osteoarchaeology and the history of medicine in our experience / Iorio, S.; Badino, P.; Gorini, I.; Aliverti, M.. - In: ACTA BIO-MEDICA DE L'ATENEO PARMENSE. - ISSN 0392-4203. - 90:2(2019), pp. 353-354. [10.23750/abm.v90i2.6886]

Osteoarchaeology and the history of medicine in our experience

Iorio S.;
2019

Abstract

Distal renal tubular acidosis is a rare genetic disease, characterised by deficit in renal tubular transport. Clinical features are metabolic acidosis with hypercloraemia and hypokalemia, and inability in urine acidification. Hypercalciuria may also be present, often treated with the use of a diuretic therapy with thiazides.
2019
acidosis, renal tubular; alkalosis; blood chemical analysis; consanguinity; diuretics; emergency service, hospital; follow-up studies; gonadal dysgenesis, 46,XY; Humans; infant, newborn; mitochondrial proton-translocating ATPases; mutation; rare diseases; severity of illness index; thiazides; urinalysis; weight loss
01 Pubblicazione su rivista::01f Lettera, Nota
Osteoarchaeology and the history of medicine in our experience / Iorio, S.; Badino, P.; Gorini, I.; Aliverti, M.. - In: ACTA BIO-MEDICA DE L'ATENEO PARMENSE. - ISSN 0392-4203. - 90:2(2019), pp. 353-354. [10.23750/abm.v90i2.6886]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1413736
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