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- Title
The Case | Renal tubular acidosis and eye findings.
- Authors
Kari, Jameela A; El Desoky, Sherif M; Singh, Ajay K; Gari, Mamdooh A; Kleta, Robert; Bockenhauer, Detlef
- Abstract
The article presents a case study of a 4.5- years-old female referred with marked developmental delay and stunted growth. The patients' brain computed tomography (CT) result has shown bilateral basal ganglia calcifications while magnetic resonance imaging of the brain was unremarkable. The patients' was diagnosed with proximal renal tubular acidosis (pRTA) and ocular abnormalities caused by sodium bicarbonate co-transporter's mutation.
- Subjects
DEVELOPMENTAL delay; COMPUTED tomography; BASAL ganglia diseases; CALCIFICATION; MAGNETIC resonance imaging; ACIDOSIS; EYE diseases; SODIUM bicarbonate
- Publication
Kidney International, 2014, Vol 86, Issue 1, p217
- ISSN
0085-2538
- Publication type
Article
- DOI
10.1038/ki.2013.320