A distal renal tubular acidosis showing hyperammonemia and hyperlactacidemia


Submitted: 18 November 2014
Accepted: 18 November 2014
Published: 31 August 2012
Abstract Views: 995
PDF: 1234
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Authors

  • C. Ripoli Dipartimento di Scienze Pediatriche e Medicina Clinica, Istituto di Clinica Pediatrica “G. Macciotta”, Università di Cagliari, I° Clinica Pediatrica, Università degli Studi di Cagliari, Cagliari, Italy.
  • A. Pinna Dipartimento di Scienze Pediatriche e Medicina Clinica, Istituto di Clinica Pediatrica “G. Macciotta”, Università di Cagliari, I° Clinica Pediatrica, Università degli Studi di Cagliari, Cagliari, Italy.
  • S. Marras Dipartimento di Scienze Pediatriche e Medicina Clinica, Istituto di Clinica Pediatrica “G. Macciotta”, Università di Cagliari, I° Clinica Pediatrica, Università degli Studi di Cagliari, Cagliari, Italy.
  • M.L. Fenu Dipartimento di Scienze Pediatriche e Medicina Clinica, Istituto di Clinica Pediatrica “G. Macciotta”, Università di Cagliari, I° Clinica Pediatrica, Università degli Studi di Cagliari, Cagliari, Italy.
  • A.M. Nurchi Dipartimento di Scienze Pediatriche e Medicina Clinica, Istituto di Clinica Pediatrica “G. Macciotta”, Università di Cagliari, I° Clinica Pediatrica, Università degli Studi di Cagliari, Cagliari, Italy.
Introduction: distal renal tubular acidosis (dRTA) presents itself with variable clinical manifestations and often with late expressions that impact on prognosis. Case report: A 45-day-old male infant was admitted with stopping growth, difficult feeding and vomiting after meals. Clinical tests and labs revealed a type 1 renal tubular acidosis, even if the first blood tests showed ammonium and lactate increase. We had to exclude metabolic diseases before having a certain diagnosis. Conclusions: blood and urine investigations and genetic tests are fundamental to formulate dRTA diagnosis and to plan follow-up, according to possible phenotypic expressions of recessive and dominant autosomal forms in patients with dRTA.

Ripoli, C., Pinna, A., Marras, S., Fenu, M., & Nurchi, A. (2012). A distal renal tubular acidosis showing hyperammonemia and hyperlactacidemia. La Pediatria Medica E Chirurgica, 34(4). https://doi.org/10.4081/pmc.2012.74

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