Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.
Iran J Kidney Dis
; 12(1): 61-63, 2018 01.
Article
en En
| MEDLINE
| ID: mdl-29421779
ABSTRACT
Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. The clinical phenotype of nephropathic cystinosis is characterized by renal tubular Fanconi syndrome and development of end-stage renal disease during the first decade. Although metabolic acidosis is the classically prominent finding of the disease, a few cases may present with hypokalemic metabolic alkalosis mimicking Bartter syndrome. Bartter-like presentation may lead to delay in diagnosis and initiation of specific treatment for cystinosis. We report a case of a 6-year-old girl initially presenting with the features of Bartter syndrome that was diagnosed 2 years later with nephropathic cystinosis and a novel CTNS mutation.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Bartter
/
Cistinosis
/
Sistemas de Transporte de Aminoácidos Neutros
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Límite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Iran J Kidney Dis
Asunto de la revista:
NEFROLOGIA
Año:
2018
Tipo del documento:
Article