Renal tubular acidosis.
Curr Opin Pediatr
; 29(2): 206-210, 2017 Apr.
Article
en En
| MEDLINE
| ID: mdl-28092281
ABSTRACT
PURPOSE OF REVIEW To facilitate the understanding and knowledge of renal tubular acidosis by providing a summarized information on the known clinical and biochemical characteristics of this group of diseases, by updating the genetic and molecular bases of the primary forms renal tubular acidosis and by examining some issues regarding the diagnosis of distal renal tubular acidosis (RTA) in the daily clinical practice. RECENT FINDINGS:
The manuscript presents recent findings on the potential of next-generation sequencing to disclose new pathogenic variants in patients with a clinical diagnosis of primary RTA and negative Sanger sequencing of known genes. The current review emphasizes the importance of measuring urinary ammonium for a correct clinical approach to the patients with metabolic acidosis and discusses the diagnosis of incomplete distal RTA.SUMMARY:
We briefly update the current information on RTA, put forward the need of additional studies in children to validate urinary indexes used in the diagnosis of RTA and offer a perspective on diagnostic genetic tests.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Acidosis Tubular Renal
/
Compuestos de Amonio
/
Riñón
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Child
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Child, preschool
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Female
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Humans
/
Male
Idioma:
En
Revista:
Curr Opin Pediatr
Asunto de la revista:
PEDIATRIA
Año:
2017
Tipo del documento:
Article
País de afiliación:
España