Body growth in primary de Toni-Debré-Fanconi syndrome

• Verfasst von: Haffner, Dieter [VerfasserIn]
• Verfasst von: Weinfurth, Achim Michael [VerfasserIn]
• Verfasst von: Seidel, Christoffer [VerfasserIn]
• Verfasst von: Manz, Friedrich [VerfasserIn]
• Verfasst von: Schmidt, Hildgund [VerfasserIn]
• Verfasst von: Waldherr, Rüdiger [VerfasserIn]
• Verfasst von: Bremer, Hans J. [VerfasserIn]
• Verfasst von: Mehls, Otto [VerfasserIn]
• Verfasst von: Schärer, Karl [VerfasserIn]
• Titel: Body growth in primary de Toni-Debré-Fanconi syndrome
• Verf.angabe: Dieter Haffner, Achim Weinfurth, Christoffer Seidel, Friedrich Manz, Hildgund Schmidt, Rüdiger Waldherr, Hans-Joachim Bremer, Otto Mehls, Karl Schärer
• E-Jahr: 1997
• Jahr: January 1997
• Umfang: 6 S.
• Fussnoten: Gesehen am 19.06.2024
• Titel Quelle: Enthalten in: Pediatric nephrology
• Ort Quelle: Berlin : Springer, 1987
• Jahr Quelle: 1997
• Band/Heft Quelle: 11(1997), 1, Seite 40-45
• ISSN Quelle: 1432-198X
• DOI: doi:10.1007/s004670050230
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: Acidosis
• Sach-SW: Body growth
• Sach-SW: Final height
• Sach-SW: Growth hormone
• Sach-SW: Key words: Primary de Toni-Debré-Fanconi syndrome
• Sach-SW: Potassium
• K10plus-PPN: 1891544691

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.