Genotype-phenotype correlations in children with Gitelman syndrome
© 2024. The Author(s), under exclusive licence to Japanese Society of Nephrology..
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, 6.8;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.
CONCLUSIONS: Patients 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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - year:2024 |
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| Enthalten in: |
Clinical and experimental nephrology - (2024) vom: 13. März |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Cho, Myung Hyun [VerfasserIn] |
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| Links: |
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| Themen: |
Genetic variant |
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| Anmerkungen: |
Date Revised 13.03.2024 published: Print-Electronic Citation Status Publisher |
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| doi: |
10.1007/s10157-024-02474-x |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM369679059 |
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| 100 | 1 | |a Cho, Myung Hyun |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Genotype-phenotype correlations in children with Gitelman syndrome |
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| 520 | |a © 2024. The Author(s), under exclusive licence to Japanese Society of Nephrology. | ||
| 520 | |a BACKGROUND: This study aimed to analyze genotype-phenotype correlations in children with Gitelman syndrome (GS) | ||
| 520 | |a 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 | ||
| 520 | |a RESULTS: The 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 | ||
| 520 | |a CONCLUSIONS: Patients 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a SLC12A3 | |
| 650 | 4 | |a Genetic variant | |
| 650 | 4 | |a Gitelman syndrome | |
| 650 | 4 | |a Hypokalemia | |
| 650 | 4 | |a Metabolic alkalosis | |
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| 700 | 1 | |a Kim, Ji Hyun |e verfasserin |4 aut | |
| 700 | 1 | |a Jang, Kyung Mi |e verfasserin |4 aut | |
| 700 | 1 | |a Lee, Jiwon M |e verfasserin |4 aut | |
| 700 | 1 | |a Yang, Eun Mi |e verfasserin |4 aut | |
| 700 | 1 | |a Park, Se Jin |e verfasserin |4 aut | |
| 700 | 1 | |a Suh, Jin-Soon |e verfasserin |4 aut | |
| 700 | 1 | |a Cho, Heeyeon |e verfasserin |4 aut | |
| 700 | 1 | |a Lee, Jung Won |e verfasserin |4 aut | |
| 700 | 1 | |a Lee, Joo Hoon |e verfasserin |4 aut | |
| 700 | 1 | |a Koo, Ja Wook |e verfasserin |4 aut | |
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| 700 | 1 | |a Kim, Kee Hyuck |e verfasserin |4 aut | |
| 700 | 1 | |a Ahn, Yo Han |e verfasserin |4 aut | |
| 700 | 1 | |a Kang, Hee Gyung |e verfasserin |4 aut | |
| 700 | 1 | |a Cheong, Hae Il |e verfasserin |4 aut | |
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