Two Brothers from Macedonia with Gitelman Syndrome
Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the SLC12A3 gene. The clinical features may overlap with other disorders, such as Bartter syndrome type 3, HNF1B nephropathy or even mitochondrial disease, b...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Sciendo
2023-07-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/bjmg-2023-0009 |
| _version_ | 1797740358037143552 |
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| author | Janchevska A Tasic V Jordanova O Gucev Z Jenkins L Jovanovska N Plaseska-Karanfilska D Ashton E Bockenhauer D |
| author_facet | Janchevska A Tasic V Jordanova O Gucev Z Jenkins L Jovanovska N Plaseska-Karanfilska D Ashton E Bockenhauer D |
| author_sort | Janchevska A |
| collection | DOAJ |
| description | Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the SLC12A3 gene. The clinical features may overlap with other disorders, such as Bartter syndrome type 3, HNF1B nephropathy or even mitochondrial disease, but can be distinguished by molecular genetic analysis. |
| first_indexed | 2024-03-12T14:11:18Z |
| format | Article |
| id | doaj.art-0f5cbda263c342cc9776873b4f80254c |
| institution | Directory Open Access Journal |
| issn | 2199-5761 |
| language | English |
| last_indexed | 2024-03-12T14:11:18Z |
| publishDate | 2023-07-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Balkan Journal of Medical Genetics |
| spelling | doaj.art-0f5cbda263c342cc9776873b4f80254c2023-08-21T06:43:49ZengSciendoBalkan Journal of Medical Genetics2199-57612023-07-01261697410.2478/bjmg-2023-0009Two Brothers from Macedonia with Gitelman SyndromeJanchevska A0Tasic V1Jordanova O2Gucev Z3Jenkins L4Jovanovska N5Plaseska-Karanfilska D6Ashton E7Bockenhauer D8University Children’s hospital, Skopje, Rep. of N. MacedoniaUniversity Children’s hospital, Skopje, Rep. of N. MacedoniaUniversity Children’s hospital, Skopje, Rep. of N. MacedoniaUniversity Children’s hospital, Skopje, Rep. of N. MacedoniaNorth East Thames Regional Genetic Laboratory, Great Ormond Street Hospital for children, London, UKResearch Center for Genetic Engineering and Biotechnology “Georgi D Efremov”, Macedonian Academy of Sciences and Arts, Skopje, Rep. of N. MacedoniaResearch Center for Genetic Engineering and Biotechnology “Georgi D Efremov”, Macedonian Academy of Sciences and Arts, Skopje, Rep. of N. MacedoniaNorth East Thames Regional Genetic Laboratory, Great Ormond Street Hospital for children, London, UKNorth East Thames Regional Genetic Laboratory, Great Ormond Street Hospital for children, London, UKGitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the SLC12A3 gene. The clinical features may overlap with other disorders, such as Bartter syndrome type 3, HNF1B nephropathy or even mitochondrial disease, but can be distinguished by molecular genetic analysis.https://doi.org/10.2478/bjmg-2023-0009gitelman syndromehypokalemiahypomagnesemiahypocalciuriaslc12a3 |
| spellingShingle | Janchevska A Tasic V Jordanova O Gucev Z Jenkins L Jovanovska N Plaseska-Karanfilska D Ashton E Bockenhauer D Two Brothers from Macedonia with Gitelman Syndrome Balkan Journal of Medical Genetics gitelman syndrome hypokalemia hypomagnesemia hypocalciuria slc12a3 |
| title | Two Brothers from Macedonia with Gitelman Syndrome |
| title_full | Two Brothers from Macedonia with Gitelman Syndrome |
| title_fullStr | Two Brothers from Macedonia with Gitelman Syndrome |
| title_full_unstemmed | Two Brothers from Macedonia with Gitelman Syndrome |
| title_short | Two Brothers from Macedonia with Gitelman Syndrome |
| title_sort | two brothers from macedonia with gitelman syndrome |
| topic | gitelman syndrome hypokalemia hypomagnesemia hypocalciuria slc12a3 |
| url | https://doi.org/10.2478/bjmg-2023-0009 |
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