Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent
Gitelman syndrome is a renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. Patients occasionally have symptoms in childhood, while diagnosis is often in adulthood. It is inherited by an autosomal recessive manner through SLC12A...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2019-06-01
|
| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/717 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850236990393417728 |
|---|---|
| author | Bahriye Atmış Rabia Miray Kışla-Ekinci Engin Melek Atıl Bişgin Mustafa Yılmaz Ali Anarat Aysun Karabay-Bayazıt |
| author_facet | Bahriye Atmış Rabia Miray Kışla-Ekinci Engin Melek Atıl Bişgin Mustafa Yılmaz Ali Anarat Aysun Karabay-Bayazıt |
| author_sort | Bahriye Atmış |
| collection | DOAJ |
| description |
Gitelman syndrome is a renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. Patients occasionally have symptoms in childhood, while diagnosis is often in adulthood. It is inherited by an autosomal recessive manner through SLC12A3 gene mutations. Familial Mediterranean Fever (FMF) is the most common autoinflammatory disorder, inherited by an autosomal recessive manner and characterized by recurrent fever and pleuritis, peritonitis, and synovitis. Mutations in MEditerrenean FeVer (MEFV) gene, coding pyrin protein are responsible for FMF. Both MEFV and SCL12A3 genes were located on chromosome 16. A 9-year-old boy was admitted to our department because of recurrent abdominal pain, fever, joint pain and swelling since he was three years old. He was diagnosed as FMF and MEFV gene sequencing revealed homozygous M694V (c.2080A > G) mutation. At the age of 14 years, polyuria, polydipsia, hypokalemia and mild hypomagnesemia had occurred. Patient was successfully treated with oral supplementation of potassium and magnesium along with colchicine. Molecular genetic analysis including SCL12A3 gene sequencing revealed homozygote IVS4-16G > A (c.602-16G > A) intronic splicing site mutation.
|
| format | Article |
| id | doaj-art-eb3b5e013bc348af9d2a762354b3bcfe |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2019-06-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-eb3b5e013bc348af9d2a762354b3bcfe2025-08-20T02:01:51ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212019-06-0161310.24953/turkjped.2019.03.021Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescentBahriye Atmış0Rabia Miray Kışla-Ekinci1Engin Melek2Atıl Bişgin3Mustafa Yılmaz4Ali Anarat5Aysun Karabay-Bayazıt6Departments of Pediatric Nephrology, Çukurova University Faculty of Medicine, Adana, Turkey.Departments ofPediatric Rheumatology, Çukurova University Faculty of Medicine, Adana, Turkey.Departments of Pediatric Nephrology, Çukurova University Faculty of Medicine, Adana, Turkey.Departments of Medical Genetics, Çukurova University Faculty of Medicine, Adana, Turkey.Departments ofPediatric Rheumatology, Çukurova University Faculty of Medicine, Adana, Turkey.Departments of Pediatric Nephrology, Çukurova University Faculty of Medicine, Adana, Turkey.Departments of Pediatric Nephrology, Çukurova University Faculty of Medicine, Adana, Turkey. Gitelman syndrome is a renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. Patients occasionally have symptoms in childhood, while diagnosis is often in adulthood. It is inherited by an autosomal recessive manner through SLC12A3 gene mutations. Familial Mediterranean Fever (FMF) is the most common autoinflammatory disorder, inherited by an autosomal recessive manner and characterized by recurrent fever and pleuritis, peritonitis, and synovitis. Mutations in MEditerrenean FeVer (MEFV) gene, coding pyrin protein are responsible for FMF. Both MEFV and SCL12A3 genes were located on chromosome 16. A 9-year-old boy was admitted to our department because of recurrent abdominal pain, fever, joint pain and swelling since he was three years old. He was diagnosed as FMF and MEFV gene sequencing revealed homozygous M694V (c.2080A > G) mutation. At the age of 14 years, polyuria, polydipsia, hypokalemia and mild hypomagnesemia had occurred. Patient was successfully treated with oral supplementation of potassium and magnesium along with colchicine. Molecular genetic analysis including SCL12A3 gene sequencing revealed homozygote IVS4-16G > A (c.602-16G > A) intronic splicing site mutation. https://turkjpediatr.org/article/view/717Familial Mediterranean FeverGitelman syndromechild |
| spellingShingle | Bahriye Atmış Rabia Miray Kışla-Ekinci Engin Melek Atıl Bişgin Mustafa Yılmaz Ali Anarat Aysun Karabay-Bayazıt Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent The Turkish Journal of Pediatrics Familial Mediterranean Fever Gitelman syndrome child |
| title | Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent |
| title_full | Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent |
| title_fullStr | Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent |
| title_full_unstemmed | Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent |
| title_short | Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent |
| title_sort | concomitance of familial mediterranean fever and gitelman syndrome in an adolescent |
| topic | Familial Mediterranean Fever Gitelman syndrome child |
| url | https://turkjpediatr.org/article/view/717 |
| work_keys_str_mv | AT bahriyeatmıs concomitanceoffamilialmediterraneanfeverandgitelmansyndromeinanadolescent AT rabiamiraykıslaekinci concomitanceoffamilialmediterraneanfeverandgitelmansyndromeinanadolescent AT enginmelek concomitanceoffamilialmediterraneanfeverandgitelmansyndromeinanadolescent AT atılbisgin concomitanceoffamilialmediterraneanfeverandgitelmansyndromeinanadolescent AT mustafayılmaz concomitanceoffamilialmediterraneanfeverandgitelmansyndromeinanadolescent AT alianarat concomitanceoffamilialmediterraneanfeverandgitelmansyndromeinanadolescent AT aysunkarabaybayazıt concomitanceoffamilialmediterraneanfeverandgitelmansyndromeinanadolescent |