Article: A distal renal tubular acidosis showing hyperammonemia and hyperlactacidemia.
La Pediatria medica e chirurgica : Medical and surgical pediatrics
2012 Volume 34, Issue 4, Page(s) 198–201
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 ... ...
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. |
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MeSH term(s) | Acidosis, Renal Tubular/blood ; Acidosis, Renal Tubular/complications ; Acidosis, Renal Tubular/diagnosis ; Acidosis, Renal Tubular/genetics ; Acidosis, Renal Tubular/therapy ; Growth Disorders/etiology ; Humans ; Hyperammonemia/blood ; Hyperammonemia/diagnosis ; Hyperammonemia/etiology ; Hyperammonemia/genetics ; Infant ; Lactates/blood ; Male ; Mutation ; Phenotype ; Potassium Citrate/administration & dosage ; Sodium Bicarbonate/administration & dosage ; Treatment Outcome ; Vomiting/etiology |
Chemical Substances | Lactates ; Sodium Bicarbonate (8MDF5V39QO) ; Potassium Citrate (EE90ONI6FF) |
Language | English |
Publishing date | 2012-07 |
Publishing country | Italy |
Document type | Case Reports ; Journal Article |
ZDB-ID | 605942-9 |
ISSN | 2420-7748 ; 0391-5387 |
ISSN (online) | 2420-7748 |
ISSN | 0391-5387 |
DOI | 10.4081/pmc.2012.74 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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