Body growth in primary de Toni-Debré-Fanconi syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1997-01

AUTHORS

Dieter Haffner, Achim Weinfurth, Christoffer Seidel, Friedrich Manz, Hildgund Schmidt, Rüdiger Waldherr, Hans-Joachim Bremer, Otto Mehls, Karl Schärer

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. More... »

PAGES

40-45

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s004670050230

DOI

http://dx.doi.org/10.1007/s004670050230

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1013167923

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/9035171


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83 metabolic acidosis
84 observations
85 patients
86 pubertal growth spurt
87 relative height
88 scores
89 severe growth failure
90 slight improvement
91 spurt
92 standard deviation score
93 start
94 start of treatment
95 supplementation
96 supportive therapy
97 syndrome
98 target height
99 therapy
100 time
101 time of diagnosis
102 treatment
103 years
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