Nephrol Dial Transplant (2004) 19: 1910-1912
Nephrol Dial Transplant Vol. 19 No. 7 © ERA-EDTA 2004; all rights reserved
Case Report
Growth failure in a girl with Fanconi syndrome and growth hormone deficiency
1 Klinik für Kinder und Jugendliche, Friedrich-Alexander-University Erlangen, Germany and 2 Universitätskinderklinik Marburg, Germany
Correspondence and offprint requests to: Jörg Dötsch, MD, Klinik für Kinder und Jugendliche, Friedrich-Alexander-University Erlangen, Loschgestrasse 15, D-91054 Erlangen, Germany. Email: JoergWDoetsch@yahoo.com
Keywords: Fanconi syndrome; growth failure; growth hormone deficiency; tubulopathy
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| Introduction |
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Idiopathic or primary de Toni-Debré-Fanconi syndrome (FS) is characterized by dysfunction of the proximal tubule. This leads to the urinary loss of bicarbonate, phosphate, glucose, potassium, amino acids and other substances. One prominent clinical feature of FS is a substantial delay in body growth [1]. Hypophosphataemia, disturbed vitamin D metabolism and metabolic acidosis are possible causes for growth retardation. Chronic hypokalaemia and extracellular volume contraction seem to be cofactors, while glucosuria and the loss of amino acids are less important [2]. Some authors believe that despite adequate replacement of the crucial electrolytes, bicarbonate and vitamin D, final height in the range of target height can rarely be reached [3,4].
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| Discussion |
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