Genotype-phenotype correlations in children with Gitelman syndrome

被引：1

作者：

Cho, Myung Hyun ^{[1
]}

Park, Peong Gang ^{[2
]}

Kim, Ji Hyun ^{[3
]}

Jang, Kyung Mi ^{[4
]}

Lee, Jiwon M. ^{[5
]}

Yang, Eun Mi ^{[6
]}

Park, Se Jin ^{[7
]}

Suh, Jin-Soon ^{[8
]}

Cho, Heeyeon ^{[9
]}

Lee, Jung Won ^{[10
]}

Lee, Joo Hoon ^{[11
]}

Koo, Ja Wook ^{[12
]}

Namgoong, Mee Kyung ^{[13
]}

Kim, Kee Hyuck ^{[14
]}

Ahn, Yo Han ^{[2
]}

Kang, Hee Gyung ^{[2
]}

Cheong, Hae Il ^{[15
]}

机构：

[1] Hallym Univ, Coll Med, Hallym Univ Sacred Heart Hosp, Dept Pediat, Anyang, South Korea

[2] Seoul Natl Univ, Coll Med, Dept Pediat, Seoul Natl Univ Childrens Hosp, Seoul, South Korea

[3] Seoul Natl Univ, Bundang Hosp, Dept Pediat, Seongnam, South Korea

[4] Yeungnam Univ, Coll Med, Dept Pediat, Daegu, South Korea

[5] Korea Dis Control & Prevent Agcy, Div Rare Dis Management, Bur Chron Dis Prevent & Control, Seoul, South Korea

[6] Chonnam Natl Univ, Chonnam Natl Univ Hosp, Med Sch, Dept Pediat, Gwangju, South Korea

[7] Eulji Univ, Daejeon Eulji Med Ctr, Dept Orthoped Surg, Sch Med, Daejeon, South Korea

[8] Catholic Univ Korea, Bucheon St Marys Hosp, Coll Med, Dept Pediat, Bucheon St, Seoul, South Korea

[9] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Pediat, Seoul, South Korea

[10] Ewha Womans Univ, Coll Med, Dept Pediat, Seoul, South Korea

[11] Univ Ulsan, Dept Pediat, Asan Med Ctr Childrens Hosp, Coll Med, Seoul, South Korea

[12] Inje Univ Sanggye Paik Hosp, Seoul, South Korea

[13] Yonsei Univ, Wonju Coll Med, Dept Pediat, Wonju, South Korea

[14] Natl Hlth Insurance Corp, Dept Pediat, Ilsan Hosp, Goyang, South Korea

[15] Seoul Red Cross Hosp, Dept Orthoped Surg, 9 Saemunan Ro, Seoul 03181, South Korea

来源：

CLINICAL AND EXPERIMENTAL NEPHROLOGY | 2024年 / 28卷 / 08期

关键词：

Gitelman syndrome; Hypokalemia; Genetic variant; Metabolic alkalosis; MUTATIONS; COTRANSPORTER; CONSENSUS; VARIANTS; SPECTRUM; SLC12A3; GENE;

D O I：

10.1007/s10157-024-02474-x

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

BackgroundThis study aimed to analyze genotype-phenotype correlations in children with Gitelman syndrome (GS).MethodsThis 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.ResultsThe median age at the diagnosis was 10.5 years (interquartile range, 6.8;14.1), and 41 patients were followed up for a median duration of 5.4 years (interquartile range, 4.1;9.6). A total of 30 different SLC12A3 variants were identified. Of the patients, 34 (68%) had biallelic variants, and 16 (32%) had monoallelic variants on examination. Among the patients with biallelic variants, those (n = 12) with the truncating variants in one or both alleles had lower serum chloride levels (92.2 +/- 3.2 vs. 96.5 +/- 3.8 mMol/L, P = 0.002) at onset, as well as lower serum potassium levels (3.0 +/- 0.4 vs. 3.4 +/- 0.3 mMol/L, P = 0.016), and lower serum chloride levels (96.1 +/- 1.9 vs. 98.3 +/- 3.0 mMol/L, P = 0.049) during follow-up than those without truncating variants (n = 22). Patients with monoallelic variants on examination showed similar phenotypes and treatment responsiveness to those with biallelic variants.ConclusionsPatients with GS who had truncating variants in one or both alleles had more severe electrolyte abnormalities than those without truncating variants. Patients with GS who had monoallelic SLC12A3 variants on examination had almost the same phenotypes, response to treatment, and long-term prognosis as those with biallelic variants.

引用

页码：803 / 810

页数：8

共 29 条

[1] Phenotype-genotype correlation and follow-up in adult patients with hypokalaemia of renal origin suggesting Gitelman syndrome [J].