C Ripoli1, A Pinna, S Marras, M L Fenu, A M Nurchi. 1. Dipartimento di Scienze Pediatriche e Medicina Clinica, Istituto di Clinica Pediatrica "G. Macciotta", Università di Cagliari.
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.
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.
Authors: Caterina M Clericetti; Gregorio P Milani; Sebastiano A G Lava; Mario G Bianchetti; Giacomo D Simonetti; Olivier Giannini Journal: Pediatr Nephrol Date: 2017-11-13 Impact factor: 3.714