Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome
Conclusions: Bartter syndrome Type III is a genetic disorder that must be identified clinically without delay, as it typically manifests as acute dehydration due to polyuria and vomiting. Hydrocephalus, although cannot be concluded to be a complication of Bartter syndrome, can be associated due to s...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-01-01
|
| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/crig/8862780 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850222486860333056 |
|---|---|
| author | Navid Roodaki Leigh Michelle Salinas Ebner Bon G. Maceda Jorelyn Frias |
| author_facet | Navid Roodaki Leigh Michelle Salinas Ebner Bon G. Maceda Jorelyn Frias |
| author_sort | Navid Roodaki |
| collection | DOAJ |
| description | Conclusions: Bartter syndrome Type III is a genetic disorder that must be identified clinically without delay, as it typically manifests as acute dehydration due to polyuria and vomiting. Hydrocephalus, although cannot be concluded to be a complication of Bartter syndrome, can be associated due to several electrolyte imbalances involved in this condition. Genetic testing is essential for identifying unidentified pathogenic variants that will aid future patients diagnosed with this condition. Genetic counseling is of the utmost importance for these families affected by the condition in question. |
| format | Article |
| id | doaj-art-30fc48d035ce4ea19d81fc0a5867a10e |
| institution | OA Journals |
| issn | 2090-6552 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-30fc48d035ce4ea19d81fc0a5867a10e2025-08-20T02:06:20ZengWileyCase Reports in Genetics2090-65522025-01-01202510.1155/crig/8862780Novel CLCNKB Mutation in Two Siblings With Classic Bartter SyndromeNavid Roodaki0Leigh Michelle Salinas1Ebner Bon G. Maceda2Jorelyn Frias3Department of PediatricsDepartment of PediatricsCenter for Human Genetics ServicesDepartment of PediatricsConclusions: Bartter syndrome Type III is a genetic disorder that must be identified clinically without delay, as it typically manifests as acute dehydration due to polyuria and vomiting. Hydrocephalus, although cannot be concluded to be a complication of Bartter syndrome, can be associated due to several electrolyte imbalances involved in this condition. Genetic testing is essential for identifying unidentified pathogenic variants that will aid future patients diagnosed with this condition. Genetic counseling is of the utmost importance for these families affected by the condition in question.http://dx.doi.org/10.1155/crig/8862780 |
| spellingShingle | Navid Roodaki Leigh Michelle Salinas Ebner Bon G. Maceda Jorelyn Frias Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome Case Reports in Genetics |
| title | Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome |
| title_full | Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome |
| title_fullStr | Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome |
| title_full_unstemmed | Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome |
| title_short | Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome |
| title_sort | novel clcnkb mutation in two siblings with classic bartter syndrome |
| url | http://dx.doi.org/10.1155/crig/8862780 |
| work_keys_str_mv | AT navidroodaki novelclcnkbmutationintwosiblingswithclassicbarttersyndrome AT leighmichellesalinas novelclcnkbmutationintwosiblingswithclassicbarttersyndrome AT ebnerbongmaceda novelclcnkbmutationintwosiblingswithclassicbarttersyndrome AT jorelynfrias novelclcnkbmutationintwosiblingswithclassicbarttersyndrome |