A distal renal tubular acidosis showing hyperammonemia and hyperlactacidemia

C. Ripoli, A. Pinna, S. Marras, M.L. Fenu, A.M. Nurchi
  • 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 | annapaola_pinna@yahoo.it
  • 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

Abstract

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.

Keywords

Distal tubular acidosis, hyperammonemia, lactate increase, genetic tests

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Submitted: 2014-11-18 15:32:39
Published: 2012-08-31 00:00:00
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Copyright (c) 2012 C. Ripoli, A. Pinna, S. Marras, M.L. Fenu, A.M. Nurchi

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