title: A distal renal tubular acidosis showing hyperammonemia and hyperlactacidemia.
abstract: BACKGROUND
  distal renal tubular acidosis (dRTA) presents itself with variable clinical manifestations and often with late expressions that impact on prognosis.
  
  
  METHODS
  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.
authors.affiliation: Dipartimento di Scienze Pediatriche e Medicina Clinica, Istituto di Clinica Pediatrica "G. Macciotta", Università di Cagliari.
authors.forename: C
authors.initials: C
authors.lastname: Ripoli
authors.forename: A
authors.initials: A
authors.lastname: Pinna
authors.forename: S
authors.initials: S
authors.lastname: Marras
authors.forename: M L
authors.initials: ML
authors.lastname: Fenu
authors.forename: A M
authors.initials: AM
authors.lastname: Nurchi
mesh_terms: D000141:Acidosis, Renal Tubular / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D022124:Hyperammonemia / Q000097:blood / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D007223:Infant; D007773:Lactates / Q000097:blood*; D008297:Male; D009154:Mutation; D010641:Phenotype; D019357:Potassium Citrate / Q000008:administration & dosage; D017693:Sodium Bicarbonate / Q000008:administration & dosage; D016896:Treatment Outcome; D014839:Vomiting / Q000209:etiology
chemical_list: D007773:Lactates; D017693:Sodium Bicarbonate; D019357:Potassium Citrate