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Pediatric Nephrology
Published in: Pediatric Nephrology 3/2014

01-03-2014 | Clinical Quiz

An unusual cause of severe rickets: Answers

Authors: Afsana Jahan, Indira Agarwal, Swasti Chaturvedi

Published in: Pediatric Nephrology | Issue 3/2014

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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. …
Literature
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Kliegman RM, Behrman RE, Jenson HB, Stanton BF (eds) (2011) Nelson textbook of pediatrics. WB Saunders, Philadelphia
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van Spronsen FJ, Thomasse Y, Smit GP, Leonard JV, Clayton PT, Fidler V, Berger R, Heymans HS (1994) Hereditary tyrosinemia Type I: a new clinical classification with difference in prognosis on dietary treatment. Hepatology 20:1187–1191PubMedCrossRef
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Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 340:813–817PubMedCrossRef
Metadata
Title
An unusual cause of severe rickets: Answers
Authors
Afsana Jahan
Indira Agarwal
Swasti Chaturvedi
Publication date
01-03-2014
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology / Issue 3/2014
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-013-2522-8

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