A new approach to mRNA in proximal tubule cells of patients with CLCN5 channelopathy

Citation
T. Morimoto et al., A new approach to mRNA in proximal tubule cells of patients with CLCN5 channelopathy, PED NEPHROL, 16(2), 2001, pp. 110-112
Citations number
12
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Pediatrics
Journal title
PEDIATRIC NEPHROLOGY
ISSN journal
0931-041X → ACNP
Volume
16
Issue
2
Year of publication
2001
Pages
110 - 112
Database
ISI
SICI code
0931-041X(200102)16:2<110:ANATMI>2.0.ZU;2-A
Abstract
ClC-5 is a chloride channel whose gene mutations have been reported to be a ssociated with X-linked nephrolithiasis (XRN), X-linked recessive hypophosp hatemic rickets (XLRH), Dent disease, and idiopathic low-molecular-weight p roteinuria (ILMWP) in Japanese children. To establish more efficient screen ing for CLCN5 abnormalities, we developed a new diagnostic method using rev erse transcription and polymerase chain reaction (RT-PCR) of cultured renal tubular cells from the urine of patients. Using this new method, we succes sfully detected microdeletion of ClC-5 mRNA in a patient and splicing abnor mality of the CLCN5 Cl channel.