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Article

Familial renal glucosuria: a clinicogenetic study of 23 additional cases.

Pediatric nephrology (Berlin, Germany) - 1 Jul 2012

Lee HyunKyung, Han Kyoung Hee, Park Hye Won, Shin Jae Il, Kim Chan Jong, Namgung Mee Kyung, Kim Kee Hyuck, Koo Ja Wook, Chung Woo Young, Lee Dae-Yeol, Kim Su-Yung, Cheong Hae Il

Abstract excerpt

BACKGROUND: Familial renal glucosuria (FRG) is an inherited renal tubular disorder characterized by persistent isolated glucosuria in the absence of hyperglycemia that is caused by mutations in the sodium-glucose cotransporter SGLT2 coding gene, SLC5A2. OBJECTIVE: We conducted molecular and phenotype analyses of a cohort of 23 unrelated Korean children with FRG. METHODS: Mutational analysis of the SLC5A2 gene was...

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PMID: 22314875
DOI: 10.1007/s00467-012-2109-9

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