Myung Hyun Cho, Peong Gang Park, Ji Hyun Kim, Kyung Mi Jang, Jiwon M Lee, Eun Mi Yang, Se Jin Park, Jin-Soon Suh, Heeyeon Cho, Jung Won Lee, Joo Hoon Lee, Ja Wook Koo, Mee Kyung Namgoong, Kee Hyuck Kim, Yo Han Ahn, Hee Gyung Kang, Hae Il Cheong
BACKGROUND: This study aimed to analyze genotype-phenotype correlations in children with Gitelman syndrome (GS). METHODS: This multicenter retrospective study included 50 Korean children diagnosed with SLC12A3 variants in one or both alleles and the typical laboratory findings of GS. Genetic testing was performed using the Sanger sequencing except for one patient. RESULTS: The median age at the diagnosis was 10.5 years (interquartile range, 6...
March 13, 2024: Clinical and Experimental Nephrology