A distal renal tubular acidosis showing hyperammonemia and hyperlactacidemia

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C. Ripoli *
A. Pinna
S. Marras
M.L. Fenu
A.M. Nurchi
(*) Corresponding Author:
C. Ripoli | annapaola_pinna@yahoo.it


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.

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