Abstract
.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.
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Received December 14, 1995; received in revised form and accepted April 17, 1996
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Haffner, D., Weinfurth, A., Seidel, C. et al. Body growth in primary de Toni-Debré-Fanconi syndrome. Pediatr Nephrol 11, 40–45 (1997). https://doi.org/10.1007/s004670050230
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DOI: https://doi.org/10.1007/s004670050230