Dent-2 disease: a mild variant of Lowe syndrome.
OBJECTIVE
To compare the renal and extra-renal phenotypes of patients classified as having Dent disease, Dent-2 disease, or Lowe syndrome.


METHODS
Chart review of data from 93 patients with identified voltage-gated chloride channel and chloride/proton antiporter 5 gene and oculo-cerebro-renal syndrome of Lowe gene mutations observed by the authors, complemented with published data.


RESULTS
There was a wide overlap of renal symptoms. Nephrocalcinosis was more prevalent in Dent-1 disease, and renal tubular acidosis, aminoaciduria, and renal failure was more prevalent in patients with Lowe syndrome. Patients with Lowe syndrome were shorter than patients with Dent-1 disease, and patients with Dent-2 disease showed an intermediate phenotype. Three patients with Dent-2 disease had mild peripheral cataract, and 9 patients were noted to have some degree of mental retardation.


CONCLUSIONS
There is a phenotypic continuum within patients with Dent-2 disease and Lowe syndrome, suggesting that there are individual differences in the ability to compensate for loss of oculo-cerebro-renal syndrome of Lowe gene function.
Bökenkamp
Arend
A
Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands. bokenkamp@vumc.nl
Böckenhauer
Detlef
D
Cheong
Hae Il
HI
Hoppe
Bernd
B
Tasic
Velibor
V
Unwin
Robert
R
Ludwig
Michael
M
D000141:Acidosis, Renal Tubular / Q000235:genetics; D000293:Adolescent; D001827:Body Height / Q000235:genetics; D002386:Cataract / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D018118:Chloride Channels / Q000235:genetics; D005919:Glomerular Filtration Rate; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D009154:Mutation; D009397:Nephrocalcinosis / Q000235:genetics; D009800:Oculocerebrorenal Syndrome / Q000235:genetics*; D010641:Phenotype; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics; D000608:Renal Aminoacidurias / Q000235:genetics; D051437:Renal Insufficiency / Q000235:genetics; D015499:Renal Tubular Transport, Inborn Errors / Q000235:genetics*; D055815:Young Adult
C097503:CLC-5 chloride channel; D018118:Chloride Channels; D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human