Published in:
01-12-2016 | Clinical Quiz
An unusual cause of hypertension with hematuria and proteinuria: Questions
Authors:
Michael B. Stokes, Ronald Zviti, Fangming Lin, Vivette D. D’Agati
Published in:
Pediatric Nephrology
|
Issue 12/2016
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Excerpt
A 14-year-old girl was referred to the pediatric nephrology clinic for evaluation and management of hypertension. Her past medical history was notable for cobalamin (cbl) G disease (methionine synthase deficiency), which was diagnosed following an infantile seizure at 3 months of age and confirmed by complementation studies. Since infancy, she had received monthly injections of hydroxycobalamin and oral supplements of betaine, folinic acid and vitamin B6. Her clinical course had been complicated by recurrent seizures, cortical blindness, developmental delay and intellectual disability, but no known kidney disease. There was no family history of metabolic or kidney disease. …
