Understanding Proximal Renal Tubular Acidosis Syndrome
Understanding Proximal Renal Tubular Acidosis Syndrome
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This overview covers PRTAO Syndrome, characterized by seizures, developmental delays, growth failure, and ocular signs linked to SLC4A4/NBCe1 mutations. It highlights the importance of recognizing acidosis with ocular anomalies for diagnosis. The case study includes a detailed work-up confirming proximal renal tubular acidosis (RTA) through whole exome sequencing (WES), emphasizing lifelong alkali therapy and a multidisciplinary approach for management. Key points on prognosis, ongoing...