Renal manifestations of Dent disease and Lowe syndrome.
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.
Department of Pediatrics, Gachon University of Medicine and Science, Gil Medical Center, Incheon, South Korea.
Hee Yeon
HY
Cho
Bum Hee
BH
Lee
Hyun Jin
HJ
Choi
Il Soo
IS
Ha
Yong
Y
Choi
Hae Il
HI
Cheong
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D018118:Chloride Channels / Q000235:genetics*; D004252:DNA Mutational Analysis; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D018740:Genetic Heterogeneity; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000235:genetics*; D008297:Male; D009154:Mutation; D009800:Oculocerebrorenal Syndrome / Q000235:genetics*; D010641:Phenotype; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D011507:Proteinuria / Q000235:genetics*; D015499:Renal Tubular Transport, Inborn Errors / Q000235:genetics
C097503:CLC-5 chloride channel; D018118:Chloride Channels; D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human