Percorsi clinici
Una sepsi neonatale con acidosi persistente
A NEONATAL SEPSIS WITH RECURRENT ACIDOSIS
CAROLINA DE CHIARA, MASSIMILIANO DE VIVO, ANTONELLA MAIORANO, LUCIANO DE SETA
UOC di Pediatria e Patologia Neonatale, Ospedale San Paolo, Napoli
Gennaio 2007 - pagg. 32 -36
Abstract
The paper describes the diagnostic difficulties occurred in a case of tubular acidosis, which
rapidly developed into an acute diarrhoea due to Rotavirus showing a concomitant sepsis by
Staphylococcus, in a new-born child. The therapy, oriented towards the treatment of the sepsis
and to the substitutive correction of the dehydration and of the acidosis (initially supposed
to be secondary), resulted only temporarily effective. The unjustified presence of acidosis,
the appearance of renal lithiasis and the evaluation of the anion gap rapidly re-oriented
the diagnosis towards the base disorder: a tubular-pathology with bicarbonate loss (type 1
distal tubular acidosis).
Parole chiave
Suggerite dall'AI
Classificazione MeSH
Bibliografia
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distal renal tubular acidosis. New understandings.
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•Bruce LJ, Cope DL, Jones GK, et al. Familial distal renal tubular acidosis is associated with mutations in red cell anion exchanger (BAND 3, AE1) gene. J Clin Invest 1997;100:1693-707.
•Caldas A, Broyewr M, Dechaux M. Primary distal tubular acidosis in childhood: clinical study and long-term follow-up of 28 patients. J Pediatr 1992;121:233-41.
•Karet FE. Inherited distal renal tubular acidosis. J Am Soc Nephrol 2002;13:2178-84.
•Kittanakom S, Cardat E, Akkarapatumwong V, et al. Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (KAE1). J Biol Chem 2004;24:279.
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•Rudolph AM, Kamei RK, Overby KJ. Manuale di Pediatria-Terza edizione. Milano: Mc Graw-Hill, 2003.
•Ruf R, Rensing C, Guay-Woodford L, et al. Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. Pediatr Nephrol 2003;18:105-9.
•Rungroj N, Devonald MA, Cuthbert AW, et al. A novel missens mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarised epithelial cells. J Biol Chem 2004;279:13833-8.
•Soriano JR. Renal tubular acidosis: The clinical entity. J Am Soc Nephrol 2002;13:2160- 70.
•Sritippayawan S, Kirdpon S, Vasuvattakul S, et al. A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis. Pediatr Nephrol 2003;18:644-8.
•Stoll C, Gentine A, Geisert J. Siblings with congenital renal tubular acidosis and nerve deafness. Clin Gen 1996;50:235-9.
•Stover EH, Borthwick KJ, Bavalia C, et al. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet 2002;39(11):796-803.
•Behrman RE, KliegmanRM, Jenson HB. Nelson Textbook of Pediatrics. 17th Edition 2004.
•Bruce LJ, Cope DL, Jones GK, et al. Familial distal renal tubular acidosis is associated with mutations in red cell anion exchanger (BAND 3, AE1) gene. J Clin Invest 1997;100:1693-707.
•Caldas A, Broyewr M, Dechaux M. Primary distal tubular acidosis in childhood: clinical study and long-term follow-up of 28 patients. J Pediatr 1992;121:233-41.
•Karet FE. Inherited distal renal tubular acidosis. J Am Soc Nephrol 2002;13:2178-84.
•Kittanakom S, Cardat E, Akkarapatumwong V, et al. Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (KAE1). J Biol Chem 2004;24:279.
•Kurtzman NA. Renal Tubular Acidosis Syndromes. South Med J 2000;9:1042-5.
•Rudolph AM, Kamei RK, Overby KJ. Manuale di Pediatria-Terza edizione. Milano: Mc Graw-Hill, 2003.
•Ruf R, Rensing C, Guay-Woodford L, et al. Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. Pediatr Nephrol 2003;18:105-9.
•Rungroj N, Devonald MA, Cuthbert AW, et al. A novel missens mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarised epithelial cells. J Biol Chem 2004;279:13833-8.
•Soriano JR. Renal tubular acidosis: The clinical entity. J Am Soc Nephrol 2002;13:2160- 70.
•Sritippayawan S, Kirdpon S, Vasuvattakul S, et al. A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis. Pediatr Nephrol 2003;18:644-8.
•Stoll C, Gentine A, Geisert J. Siblings with congenital renal tubular acidosis and nerve deafness. Clin Gen 1996;50:235-9.
•Stover EH, Borthwick KJ, Bavalia C, et al. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet 2002;39(11):796-803.
Corrispondenza: ludeseta@tin.it