ISSN:
1432-198X
Keywords:
Key words: Primary de Toni-Debré-Fanconi syndrome
;
Body growth
;
Acidosis
;
Final height
;
Growth hormone
;
Potassium
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004670050230
Permalink
