title: Body growth in primary de Toni-Debré-Fanconi syndrome.
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.
authors.affiliation: Department of Pediatrics, University of Heidelberg, Germany.
authors.forename: D
authors.initials: D
authors.lastname: Haffner
authors.forename: A
authors.initials: A
authors.lastname: Weinfurth
authors.forename: C
authors.initials: C
authors.lastname: Seidel
authors.forename: F
authors.initials: F
authors.lastname: Manz
authors.forename: H
authors.initials: H
authors.lastname: Schmidt
authors.forename: R
authors.initials: R
authors.lastname: Waldherr
authors.forename: H J
authors.initials: HJ
authors.lastname: Bremer
authors.forename: O
authors.initials: O
authors.lastname: Mehls
authors.forename: K
authors.initials: K
authors.lastname: Schärer
mesh_terms: D000293:Adolescent; D001639:Bicarbonates / Q000097:blood / Q000627:therapeutic use; D001827:Body Height / Q000502:physiology; D002118:Calcium / Q000652:urine; D002648:Child; D002675:Child, Preschool; D005198:Fanconi Syndrome / Q000188:drug therapy / Q000503:physiopathology*; D005260:Female; D006130:Growth Disorders / Q000188:drug therapy / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D007444:Inulin; D007677:Kidney Function Tests; D008274:Magnesium / Q000097:blood / Q000627:therapeutic use; D008297:Male; D010758:Phosphorus / Q000097:blood / Q000627:therapeutic use; D011188:Potassium / Q000097:blood / Q000627:therapeutic use; D012189:Retrospective Studies; D015430:Weight Gain / Q000502:physiology
chemical_list: D001639:Bicarbonates; D010758:Phosphorus; D007444:Inulin; D008274:Magnesium; D011188:Potassium; D002118:Calcium