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Body growth in primary de Toni-Debré-Fanconi syndrome

.Body growth in nine children with primary de Toni-Debré-Fanconi syndrome was followed from birth to adolescence or adult life. At the time of diagnosis, corresponding to the start of treatment, the median age was 2.3 (range 0.4-13.9) years and height standard deviation score (SDS) was always decre...

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Main Authors: Haffner, Dieter (Author) , Weinfurth, Achim Michael (Author) , Seidel, Christoffer (Author) , Manz, Friedrich (Author) , Schmidt, Hildgund (Author) , Waldherr, Rüdiger (Author) , Bremer, Hans J. (Author) , Mehls, Otto (Author) , Schärer, Karl (Author)
Format: Article (Journal)
Language:English
Published: January 1997
In: Pediatric nephrology
Year: 1997, Volume: 11, Issue: 1, Pages: 40-45
ISSN:1432-198X
DOI:10.1007/s004670050230
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s004670050230
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Author Notes:Dieter Haffner, Achim Weinfurth, Christoffer Seidel, Friedrich Manz, Hildgund Schmidt, Rüdiger Waldherr, Hans-Joachim Bremer, Otto Mehls, Karl Schärer
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Summary:.Body growth in nine children with primary de Toni-Debré-Fanconi syndrome was followed from birth to adolescence or adult life. At the time of diagnosis, corresponding to the start of treatment, the median age was 2.3 (range 0.4-13.9) years and height standard deviation score (SDS) was always decreased (median -3.5, range -6.8 to -2.1). Despite continuous electrolyte and bicarbonate supplementation only four patients showed a slight improvement in growth. At the time of the last observation at the age of 17.2 (4.5-20.1) years median height was -4.7 (-5.9 to -1.8) SDS. The median difference between height at last observation and target height was -4.5 SDS. Final height (n=5) ranged between -1.8 and -5.5 (median -4.3) SDS. The pubertal growth spurt was absent in two children. Metabolic acidosis was identified as a significant growth-retarding factor. Mean serial blood bicarbonate levels and height SDS at the last observation were correlated (r=-0.87, P<0.01). No correlation was observed between last height SDS and the degree of hypokalemia, hypophosphatemia, or hypercalciuria. In conclusion, patients with primary de Toni-Debré-Fanconi-syndrome present severe growth failure at the time of diagnosis which persists into adult life. Supportive therapy is frequently unable to prevent further loss of relative height.
Item Description:Gesehen am 19.06.2024
Physical Description:Online Resource
ISSN:1432-198X
DOI:10.1007/s004670050230

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