Renal manifestations of Dent disease and Lowe syndrome

Hee Yeon Cho, Bum Hee Lee, Hyun Jin Choi, Soo I. Ha, Yong Choi, Hae I. Cheong

Research output: Contribution to journalArticle

56 Citations (Scopus)

Abstract

To date, two responsible genes for the development of Dent disease have been identified: CLCN5 and OCRL1. In this study, genotype-phenotype correlations were studied in patients with Dent disease and those with Lowe syndrome. Among the 12 boys with a phenotype typical of Dent disease, nine had a mutation in CLCN5 (Dent disease 1), two had a mutation in OCRL1 (Dent disease 2), and one had no mutations in either gene. All seven boys with a clinical diagnosis of Lowe syndrome had a mutation in OCRL1. Patients with Lowe syndrome showed more frequent hypophosphatemia/rickets and more prominent tubular proteinuria than patients with Dent disease 1, and patients with Dent disease 2 had higher degree of tubular proteinuria and hypercalciuria than patients with Dent disease 1. Additionally, one patient with Dent disease 2 showed a mild degree of developmental delay, elevated serum muscle enzyme levels, and cryptorchidism. In this study, the genetic heterogeneity in Dent disease and the phenotypic heterogeneity in Lowe syndrome were confirmed. In patients with Dent disease, the presence of the above-mentioned extrarenal manifestations indicates that it is more likely that the patient is affected by Dent disease 2 than by Dent disease 1.

Original languageEnglish
Pages (from-to)243-249
Number of pages7
JournalPediatric Nephrology
Volume23
Issue number2
DOIs
StatePublished - 1 Feb 2008

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Dent Disease
Oculocerebrorenal Syndrome
Kidney
Mutation
Proteinuria
Hypophosphatemia
Hypercalciuria
Rickets
Cryptorchidism
Genetic Heterogeneity
Genetic Association Studies
Genes

Keywords

  • CLCN5 gene
  • Dent disease
  • Genetic heterogeneity
  • Lowe syndrome
  • OCRL1 gene

Cite this

Cho, Hee Yeon ; Lee, Bum Hee ; Choi, Hyun Jin ; Ha, Soo I. ; Choi, Yong ; Cheong, Hae I. / Renal manifestations of Dent disease and Lowe syndrome. In: Pediatric Nephrology. 2008 ; Vol. 23, No. 2. pp. 243-249.
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Renal manifestations of Dent disease and Lowe syndrome. / Cho, Hee Yeon; Lee, Bum Hee; Choi, Hyun Jin; Ha, Soo I.; Choi, Yong; Cheong, Hae I.

In: Pediatric Nephrology, Vol. 23, No. 2, 01.02.2008, p. 243-249.

Research output: Contribution to journalArticle

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