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Body growth in primary de Toni-Debré-Fanconi syndrome
D Haffner1, A Weinfurth, C Seidel
1Department of Pediatrics, University of Heidelberg, Germany.
Insights
Children with de Toni-Debré-Fanconi syndrome experience severe growth failure from diagnosis into adulthood. Supportive therapies often fail to prevent continued height loss in these patients.
Area of Science:
- Pediatric Endocrinology
- Nephrology
- Genetics
Background:
- Primary de Toni-Debré-Fanconi syndrome is a rare genetic disorder affecting kidney function.
- This condition leads to significant metabolic derangements and can impair growth.
- Early diagnosis and management are crucial for affected children.
Purpose of the Study:
- To evaluate the long-term body growth patterns in children diagnosed with primary de Toni-Debré-Fanconi syndrome.
- To assess the efficacy of supportive therapies in improving growth outcomes.
- To identify factors influencing growth failure in this patient population.
Main Methods:
- Longitudinal follow-up of nine children with primary de Toni-Debré-Fanconi syndrome from birth to adulthood.
- Monitoring of growth parameters, including height standard deviation score (SDS).
- Analysis of metabolic parameters, including blood bicarbonate levels, and correlation with growth outcomes.
Main Results:
- Patients presented with significantly decreased height SDS at diagnosis (median -3.5).
- Despite treatment, only four patients showed slight growth improvement; final median height SDS was -4.3.
- Metabolic acidosis was a significant growth-retarding factor, with a strong correlation between bicarbonate levels and final height SDS (r = -0.87).
Conclusions:
- Primary de Toni-Debré-Fanconi syndrome is associated with persistent and severe growth failure.
- Standard supportive therapy is often insufficient to prevent significant height deficits.
- Metabolic acidosis is a key factor contributing to impaired growth in these children.
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.