OBJECTIVE: To compare the renal and extra-renal phenotypes of patients classified as having Dent disease, Dent-2 disease, or Lowe syndrome. STUDY DESIGN: 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. CONCLUSION: 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.
OBJECTIVE: To compare the renal and extra-renal phenotypes of patients classified as having Dent disease, Dent-2 disease, or Lowe syndrome. STUDY DESIGN: 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. CONCLUSION: 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.
Authors: Susan P Bothwell; Emily Chan; Isa M Bernardini; Yien-Ming Kuo; William A Gahl; Robert L Nussbaum Journal: J Am Soc Nephrol Date: 2010-12-23 Impact factor: 10.121
Authors: Markus Draaken; Carmen A Giesen; Anne L Kesselheim; Ronald Jabs; Stefan Aretz; Monika Kugaudo; Krystyna H Chrzanowska; Malgorzata Krajewska-Walasek; Michael Ludwig Journal: Hum Genet Date: 2011-01-12 Impact factor: 4.132
Authors: Florian Recker; Marcin Zaniew; Detlef Böckenhauer; Nunzia Miglietti; Arend Bökenkamp; Anna Moczulska; Anna Rogowska-Kalisz; Guido Laube; Valerie Said-Conti; Belde Kasap-Demir; Anna Niemirska; Mieczysław Litwin; Grzegorz Siteń; Krystyna H Chrzanowska; Małgorzata Krajewska-Walasek; Sidharth K Sethi; Velibor Tasic; Franca Anglani; Maria Addis; Anna Wasilewska; Maria Szczepańska; Krzysztof Pawlaczyk; Przemysław Sikora; Michael Ludwig Journal: Pediatr Nephrol Date: 2014-12-06 Impact factor: 3.714