Erschienen in:
01.03.2014 | Clinical Quiz
An unusual cause of severe rickets: Answers
verfasst von:
Afsana Jahan, Indira Agarwal, Swasti Chaturvedi
Erschienen in:
Pediatric Nephrology
|
Ausgabe 3/2014
Einloggen, um Zugang zu erhalten
Excerpt
Given the history of failure to thrive and finding of severe rickets with normal anion gap metabolic acidosis with glucosuria, phosphaturia and aminoaciduria, the diagnosis of Fanconi syndrome was made. In the presence of hepatosplenomegaly and abnormal liver function test results, the differential diagnosis of tyrosinemia type 1, cystinosis, glycogen storage disease, Fanconi–Bickel syndrome was considered. …